MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Cancer Genetics and Cytogenetics' source. Sat, 20 Mar 2010 15:46:57 +0100 http://www.medworm.com/index.php?rid=3377294&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460810000701%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377294 Thu, 18 Mar 2010 16:03:07 +0100 3377294 http://www.medworm.com/index.php?rid=3377293&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460810000555%2Fabstract%3Frss%3Dyes Wayne Yu, Yasmine Kanaan, Young-Kyung Baed, Edward Gabrielson. Chromosomal changes in aggressive breast cancers with basal-like features. Cancer Genet Cytogenet 2009;193:29-37. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377293 Thu, 18 Mar 2010 16:03:07 +0100 3377293 http://www.medworm.com/index.php?rid=3377292&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460810000373%2Fabstract%3Frss%3Dyes Aleksandra Drago Krstic, Luciana Impera, Marija Guc-Scekic, Nina Lakic, Dragan Djokic, Bojana Slavkovic, Clelia Tiziana Storlazzi. A complex rearrangement involving cryptic deletion of ETV6 and CDKN1B genes in a case of childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 2009;195:125-31. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377292 Thu, 18 Mar 2010 16:03:07 +0100 3377292 http://www.medworm.com/index.php?rid=3377291&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809007006%2Fabstract%3Frss%3Dyes We describe three cases of high-grade lymphoma in which cryptic insertion events, resulting in clinically significant IGH-MYC rearrangements, were detectable using an IGH/MYC three-color, dual-fusion fluorescence in situ hybridization (FISH) probe set, but were not detected using break-apart MYC FISH probes, thus highlighting the limitations of using break-apart probes as a stand-alone test, particularly with the increased use of interphase FISH analysis of formalin-fixed, paraffin-embedded tissue sections in the diagnostic work-up of these patients. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377291 Thu, 18 Mar 2010 16:03:07 +0100 3377291 http://www.medworm.com/index.php?rid=3377290&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006992%2Fabstract%3Frss%3Dyes We present here a novel conventional and molecular cytogenetic study of a CLL patient with t(6;13)(p21;q14.1), a rare chromosomal aberration. The findings contribute to the identification of rare recurrent aberrations and of any prognostic effect in CLL that could be used for prognostic and therapeutic purposes. The present study demonstrates that t(6;13)(p21;q14.1) as a secondary event to the interstitial deletion in 13q14 region, resulting in the loss of RB1, is a rare but nonrandom abnormality in CLL, resistant to the current treatment CLL protocols with a rather favorable or intermediate prognosis but definitely not an adverse prognosis. Further studies in more CLL patients are required to delineate the prognostic value of t(6;13)(p21;q14.1) and to identify any candidate genes with pot... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377290 Thu, 18 Mar 2010 16:03:07 +0100 3377290 http://www.medworm.com/index.php?rid=3377289&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006955%2Fabstract%3Frss%3Dyes We report a case of acute monoblastic leukemia showing a jumping translocation with the MLL gene in a 17-year-old male. Classic cytogenetic and spectral karyotyping revealed a complex karyotype, and fluorescence in situ hybridization (FISH) demonstrated amplification of the MLL gene followed by translocation to chromosomes 15q, 17q, and 19q. In addition, molecular analyses showed a high expression of AURKA and AURKB genes. It is already known that overexpression of Aurora kinases is associated with chromosomal instability and poor prognosis. The formation of jumping translocations is a rare cytogenetic event and there is evidence pointing toward preferential involvement of the heterochromatin region of donor chromosomes and the telomere ends of recipient chromosomes. Jumping translocation ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377289 Thu, 18 Mar 2010 16:03:07 +0100 3377289 http://www.medworm.com/index.php?rid=3377288&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006979%2Fabstract%3Frss%3Dyes Abstract: The present study investigated DNA copy number changes mapping to the p and q arms of chromosome 16 in breast cancer with the goal to determine their potential in identifying breast cancer patients with poor prognosis. We identified the minimal overlapping regions on chromosome 16 that are commonly deleted and amplified in breast tumors. Fluorescence in situ hybridization was used to screen a custom-made breast carcinoma tissue microarray representing all tumor grades, in order to detect DNA copy number changes mapping to 16p12.1 and 16q22.1. We generated 16q/16p ratios for each patient and examined the correlation between DNA copy number alterations and the patients' clinical and pathological parameters. We observed lower q/p ratios in grade I invasive carcinomas, compared with ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377288 Thu, 18 Mar 2010 16:03:07 +0100 3377288 http://www.medworm.com/index.php?rid=3377287&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006967%2Fabstract%3Frss%3Dyes Abstract: Information on structural chromosomal changes in brain metastases (BM) of colorectal carcinoma (CRC) is very limited. Therapeutic and diagnostic strategies to reduce the risk of BM have potential impact on cancer mortality. By using comparative genomic hybridization, the primary CRC of 11 patients and their corresponding 13 BM were analyzed. BM showed significantly more mean chromosomal aberrations than the primary CRC (13.6±2.1 vs. 7.9±1.9, P=0.03), significantly more chromosomal gains (7.2±0.9 vs. 3.5±0.9, P=0.01), and tended to have also more losses (6.1±1.4 vs. 4.0±1.1, P=0.29). Changes that occurred significantly more often in BM than in primary CRC were gains of 8q, 12p, 12q, and 20p, as well as losses of 5q. BM of CRC show a significantly higher chromosomal instabili... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377287 Thu, 18 Mar 2010 16:03:06 +0100 3377287 http://www.medworm.com/index.php?rid=3377286&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006943%2Fabstract%3Frss%3Dyes This study suggests that GSTT1 deletion may significantly increase the risk of drug-related toxicity after R-CHOP chemotherapy in patients with DLBCL, and is associated with worse prognosis in males. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377286 Thu, 18 Mar 2010 16:03:06 +0100 3377286 http://www.medworm.com/index.php?rid=3377285&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006931%2Fabstract%3Frss%3Dyes In this study, we examined 121 samples of prostate carcinoma in Chinese subjects for mutations at codons 12 and 13 of KRAS and codon 600 of BRAF by means of the mutant-enriched polymerase chain reaction–coupled sequencing method. The identified KRAS and BRAF mutations were analyzed for association with tumor differentiation and clinical stage. The result showed that KRAS mutations were detected in 9.1% (11 of 121) of prostate carcinomas, while no BRAF mutation was found in any case studied. No association was found between KRAS mutation and clinicopathological characteristics of the tumors. Our study suggests that mutations of KRAS, not BRAF, may play a role in the pathogenesis of prostate carcinoma in Chinese patients. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377285 Thu, 18 Mar 2010 16:03:06 +0100 3377285 http://www.medworm.com/index.php?rid=3377284&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006918%2Fabstract%3Frss%3Dyes In this study, we used aCGH to compare genomic alterations in fresh-frozen lung cancer tissues of 21 adenocarcinomas (AdCCs) (11 early relapse and 10 nonrelapse) and identified genomic alterations that showed significant by different frequency between early relapse and nonrelapse AdCCs. Twelve clones were identified by the false discovery rate (FDR) test, and Kaplan-Meier analyses were selected as predictive markers. The significant gain clones were found in 11p (11p15.4, 11p15.1, and 11p13). When the cutoff value was 2, study of the association between candidate clones and relapse prediction revealed that early relapse and nonrelapse groups were most effectively separated. To further validate the gain of chromosome 11p region that was identified by array CGH, fluorescence in situ hybridiz... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377284 Thu, 18 Mar 2010 16:03:04 +0100 3377284 http://www.medworm.com/index.php?rid=3377283&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006712%2Fabstract%3Frss%3Dyes Abstract: Angiotensin-converting enzyme (ACE) plays an important role in the physiological control of blood pressure and inflammation. We investigated an insertion/deletion (I/D) polymorphism of the gene for ACE in relation to cardiovascular, cerebrovascular, neurodegenerative, and inflammatory diseases. The purpose of the present study was to investigate a possible association between lung cancer and insertion/deletion polymorphism of the ACE gene. A total of 125 patients with lung cancer and 165 control subjects were enrolled in the present study. ACE I/D genotypes were determined by polymerase chain reaction. Allelic frequencies and genotype distribution of the ACE I/D polymorphism in the patient group were significantly different from control subjects (ACE II genotype 29.6 vs. 17.6%, P... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377283 Thu, 18 Mar 2010 16:03:04 +0100 3377283 http://www.medworm.com/index.php?rid=3377282&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006657%2Fabstract%3Frss%3Dyes Abstract: Epidermal growth factor can activate several signaling pathways, leading to proliferation, differentiation, and tumorigenesis of epithelial tissues by binding with its receptor. The EGF protein is involved in nervous system development, and polymorphisms in the EGF gene on chromosome band 4q25 are associated with brain cancers. The purpose of this study was to investigate the association between the single-nucleotide polymorphism of EGF+61G/A and extraaxial brain tumors in a population of the southeast of Brazil. We analyzed the genotype distribution of this polymorphism in 90 patients and 100 healthy subjects, using the polymerase chain reaction–restriction fragment length polymorphism technique. Comparison of genotype distribution revealed a significant difference between pat... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377282 Thu, 18 Mar 2010 16:03:03 +0100 3377282 http://www.medworm.com/index.php?rid=3377281&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900644X%2Fabstract%3Frss%3Dyes Abstract: Vascular endothelial growth factor A (VEGF-A), a major driver of physiological and pathological angiogenesis, plays important roles in the etiology and metastasis of cancers. The +936C>T polymorphism in the 3′-untranslated region of the VEGFA gene has been implicated in cancer risk and is related to VEGF-A protein production; however, published data have been conflicting. To derive a more precise estimation of the relationship, a meta-analysis was performed of 13,293 cancer cases and 12,308 control subjects from 29 published case–control studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association between +936C>T polymorphism and cancer risk. The meta-analysis indicated that individuals with the +936 T had increased risk of oral canc... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377281 Thu, 18 Mar 2010 16:03:03 +0100 3377281 http://www.medworm.com/index.php?rid=3377280&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900692X%2Fabstract%3Frss%3Dyes This study demonstrates that Agilent oligonucleotide array comparative genomic hybridization generates reliable results from FFPE extracted DNA, whereas the Affymetrix SNP-based array seems less suitable for the analysis of FFPE material. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377280 Thu, 18 Mar 2010 16:03:03 +0100 3377280 http://www.medworm.com/index.php?rid=3377279&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460810000695%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3377279 Thu, 18 Mar 2010 16:03:03 +0100 3377279 http://www.medworm.com/index.php?rid=3321331&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460810000117%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321331 Mon, 01 Mar 2010 00:00:00 +0100 3321331 http://www.medworm.com/index.php?rid=3321330&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006438%2Fabstract%3Frss%3Dyes Breast cancer is the most common cancer in women and is associated with genetic variants in critical genes and protein pathways. Several recent association studies have identified fibroblast growth factor receptor-2 (FGFR2), a gene involved in mammary gland development, as a novel gene for breast cancer risk and rs2981582, or its proxy single-nucleotide polymorphism (SNP), as a candidate SNP in various populations . Further studies suggest that two single-nucleotide polymorphism (SNP) (rs2981578 and rs7895676) in strong linkage disequilibrium (LD) with rs2981582 could influence enhancer activity by altering the Runt-related transcription factor 2 (Runx2) and/or CCAAT/enhancer-binding protein-β (C/EBPβ) binding affinity . rs2981582 was observed to be associated with FGFR2 expression in b... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321330 Mon, 01 Mar 2010 00:00:00 +0100 3321330 http://www.medworm.com/index.php?rid=3321329&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006621%2Fabstract%3Frss%3Dyes Paraganglioma (PGL) is a rare tumor that may be found in the abdomen, the thorax, or the head and neck region. Succinate dehydrogenase (SDH, or succinate-coenzyme Q reductase) was recognized as one of the key molecules playing a role in the pathogenesis of the tumor . An enzyme complex bound to the inner mitochondrial membrane, SDH is the only enzyme that participates in both the citric acid cycle and the mitochondrial electron transport chain. It is a heterotetramer divided into three domains: SDHA, the catalytic domain, SDHB, the electron transfer subunit; and SDHC and SDHD, the anchor subunits. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321329 Mon, 01 Mar 2010 00:00:00 +0100 3321329 http://www.medworm.com/index.php?rid=3321328&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080800695X%2Fabstract%3Frss%3Dyes Abstract: Acute promyelocytic leukemia (APL) is characterized by a t(15;17)(q22;q21) rearrangement. Additional chromosomal rearrangements have been reported in 25–40% of APL patients. The most common abnormality involving chromosome 17 is ider(17). Here we report the case of a patient with APL with isochromosome 17q combined with ider(17), confirmed by fluorescence in situ hybridization. Cytogenetic data strongly suggest that the involvement of chromosomes 15 and 17 in translocation occurs after formation of the isochromosome 17. The case reported here presents the novel finding of two separate clonal events apparently occurring at the same time in an APL patient. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321328 Mon, 01 Mar 2010 00:00:00 +0100 3321328 http://www.medworm.com/index.php?rid=3321327&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006098%2Fabstract%3Frss%3Dyes We report on a 59-year-old female diagnosed with minimally differentiated AML (M0). Chromosome analysis demonstrated both a 7q deletion and a t(8;14). Fluorescence in situ hybridization studies confirmed MYC/IGH fusion in 35% of nuclei, but the translocation was atypical due to lack of immunoglobulin heavy chain (IGH) gene disruption. Such an atypical fusion has never been reported, so the effect on MYC regulation due to proximity of IGH regulatory elements is unknown. Real-time polymerase chain reaction analysis demonstrated no increase in MYC expression (P = 0.12). These results suggest that this novel translocation does not result in dysregulation of MYC expression, so this is likely to be a coincidental, benign finding in this patient. This is yet another example of a classic cytogen... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321327 Mon, 01 Mar 2010 00:00:00 +0100 3321327 http://www.medworm.com/index.php?rid=3321326&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006633%2Fabstract%3Frss%3Dyes Abstract: Polymorphism at codon 72 of TP53, resulting in either the arginine (Arg) or proline (Pro) form of p53 (R72P), has been associated with the susceptibility to different cancers. To better understand the role of this polymorphism in cervical cancer etiology, we investigated the association between p53 R72P and cervical cancer risk in Chinese women from southern Han. Blood samples from 105 women with cervical cancer and from 140 female blood donors were collected. DNA from peripheral blood lymphocytes was extracted, and the exon 4 of TP53 was amplified by polymerase chain reaction and then digested by BstUI. We observed that the Arg/Arg genotype was significantly associated with an increased risk for cervical cancer [odds ratio (OR)=1.465, 95% confidence interval (95%CI)=1.04–2.138... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321326 Mon, 01 Mar 2010 00:00:00 +0100 3321326 http://www.medworm.com/index.php?rid=3321325&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006645%2Fabstract%3Frss%3Dyes Abstract: In myelodysplastic syndromes (MDS), close to one half of patients do not have any visible karyotypic change. In order to study submicroscopic genomic alterations, we applied high-resolution array comparative genomic hybridization techniques (aCGH) in 37 patients with de novo MDS. Furthermore, we studied the methylation status of the RPS14 gene in 5q deletion (5q21.3q33.1) in 24 patients. In all, 21 of the 37 patients (57%) had copy number alterations. The most frequent copy number losses with minimal common overlapping areas were 5q21.3q33.1 (21%) and 7q22.1q33 (19%); the most frequent copy number gain was gain of the whole chromosome 8 (8%). Recurrent, but less frequent copy number losses were detected in two cases each: 11q14.1q22.1, 11q22.3q24.2, 12p12.2p13.31, 17p13.2, 18q12.... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321325 Mon, 01 Mar 2010 00:00:00 +0100 3321325 http://www.medworm.com/index.php?rid=3321324&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006050%2Fabstract%3Frss%3Dyes In this study, amplifications and deletions in the ACHE and BCHE genes were investigated in sporadic breast tumors using real-time polymerase chain reaction and the relative quantification method. The majority of the tumor tissues showed a notable number of both deletions and amplifications: 65.7% and 22.9%, respectively, in BCHE and 45.7% and 31.4%, respectively, in ACHE. Deletion of the ACHE gene was significantly correlated with amplification of the protooncogene ERBB2. Tumor size was significantly higher when the ACHE gene was amplified, and the total number of alterations (amplifications plus deletions) of the BCHE gene was positively correlated with tumor malignancy grade. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321324 Mon, 01 Mar 2010 00:00:00 +0100 3321324 http://www.medworm.com/index.php?rid=3321323&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006426%2Fabstract%3Frss%3Dyes Abstract: To determine the possible alteration of the inhibitor κBα (HUGO-approved symbol, NFKBIA) gene in Chinese Hodgkin lymphoma (HL) patients, NFKBIA mRNA and protein expression in 22 primary HL patients were examined. Individual tumor cells were used for amplification to obtain the NFKBIA gene, and the polymerase chain reaction products were sequenced. Compared with reactive surrounding lymphocytes, inhibitor κBα protein (IκBα) expression was weaker in the cytoplasm of H-RS (Hodgkin and Reed–Sternberg) cells. NFKBIA mRNA was strongly expressed in H-RS cells from HL sections, and little was detected in the reactive surrounding lymphocytes. A total of 37.5% of the patients with HL had mutations in the NFKBIA gene. Some mutations possibly resulted in C-terminally truncated form o... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321323 Mon, 01 Mar 2010 00:00:00 +0100 3321323 http://www.medworm.com/index.php?rid=3321322&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006669%2Fabstract%3Frss%3Dyes Abstract: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate metabolic pathway. We aimed to test the hypothesis that C677T and A1298C variants of MTHFR predispose to microsatellite instable (MSI) colorectal cancer. We determined MTHFR genotypes in 175 sporadic colorectal cancer patients and a total of 231 normal controls in Shiraz, Southern Iran. Among the genotypes found in our samples, MTHFR CT and CT+TT were associated with increased risk for CRC incidence [odds ratio (OR)=2.4, 95% confidence interval (95%CI)=1.8–4.4; OR=2.4, 95%CI=1.6–3.6, respectively]. Double heterozygotes 677CT/1298AC and double homozygote 677TT/1298AA and 677CC/1298CC genotypes also showed a significantly increased risk of developing CRC compared with the wild-type 677CC/1298AA genotypes ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321322 Mon, 01 Mar 2010 00:00:00 +0100 3321322 http://www.medworm.com/index.php?rid=3321321&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006694%2Fabstract%3Frss%3Dyes Abstract: The STK11/LKB1 gene encodes a ubiquitously expressed serine/threonine kinase that is mutated in multiple sporadic cancers including non-small cell lung carcinomas, pancreatic cancers, and melanomas. LKB1 plays a role in multiple cellular functions including cell growth, cell cycle progression, metabolism, cell polarity, and migration. To date, only a limited number of studies have assessed the status of LKB1 in cervical cancers. Herein, we investigate DNA methylation, DNA mutation, and transcription at the LKB1 locus in cervical cancer cell lines. We identified homozygous deletions of 25–85kb in the HeLa and SiHa cell lines. Deletion breakpoint analysis in HeLa cells revealed that the deletion resulted from an Alu-recombination-mediated deletion (ARMD) and generated a novel LKB... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321321 Mon, 01 Mar 2010 00:00:00 +0100 3321321 http://www.medworm.com/index.php?rid=3321320&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006700%2Fabstract%3Frss%3Dyes Abstract: We have performed a retrospective array-based comparative hybridization (array-CGH) study on 41 acute leukemia samples [n=17 acute lymphoblastic leukemia (ALL) patients only at diagnosis, n=3 ALL patients both at diagnosis and relapse; n=20 acute myeloid leukemia (AML) patients only at diagnosis and n=1 AML patient both at diagnosis and relapse] using an Agilent 44K array. In addition to previously detected cytogenetic aberrations, we observed cryptic aberrations in 95% of ALL and 90.5% of AML cases. ALL-specific recurrent abnormalities were RB1 (n=3), PAX5 (n=4), and CDKN2B (n=3) deletions; AML-specific recurrent abnormalities were HOXA9 and HOXA10 (n=2) deletions and NOTCH1 duplication (n=2). Recurrent duplication of the ELK1 oncogene was observed in both ALL (n=2) and AML (n=3... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321320 Mon, 01 Mar 2010 00:00:00 +0100 3321320 http://www.medworm.com/index.php?rid=3321319&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006608%2Fabstract%3Frss%3Dyes In conclusion, Korean WM patients had a low rate of 6q deletion (10%) and no trisomy 4. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321319 Mon, 01 Mar 2010 00:00:00 +0100 3321319 http://www.medworm.com/index.php?rid=3321318&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900661X%2Fabstract%3Frss%3Dyes Abstract: Stable cell lines obtained by spontaneous immortalization might represent early stages of malignant transformation and be useful experimental models for studies of mechanisms of cancer development. The FHC (fetal human cells) cell line has been established from normal fetal colonic mucosa. Detailed characterization of this cell line and mechanism of spontaneously acquired immortality have not been described yet. Therefore, we characterized the FHC cell line in terms of its tumorigenicity, cytogenetics, and TP53 gene mutation analysis. FHC cells displayed capability for anchorage-independent growth in semisolid media in vitro and formed solid tumors after transplantation into SCID (severe combined immunodeficiency) mice. This tumorigenic phenotype was associated with hypotriploidy... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321318 Mon, 01 Mar 2010 00:00:00 +0100 3321318 http://www.medworm.com/index.php?rid=3321317&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006724%2Fabstract%3Frss%3Dyes Abstract: The ubiquitin–proteasome pathway facilitates the degradation of damaged proteins and regulates growth and stress response. This pathway is activated in various cancers, including breast cancer. We have previously reported that the novel human gene, UBE2Q2, is a putative ubiquitin-conjugating enzyme that is located on chromosome 15 and is overexpressed in tumor mass and invasive epithelium in head and neck squamous-cell carcinoma. Here, real-time polymerase chain reaction was used to investigate the expression levels of UBE2Q2 gene in a collection of 21 breast cancer tissues matched with normal adjacent counterparts. Immunohistochemistry and Western blot testing were also performed on formalin-fixed, paraffin-embedded tissue sections by using a rabbit polyclonal antibody that we... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321317 Mon, 01 Mar 2010 00:00:00 +0100 3321317 http://www.medworm.com/index.php?rid=3321316&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460810000105%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3321316 Mon, 01 Mar 2010 00:00:00 +0100 3321316 http://www.medworm.com/index.php?rid=3211126&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809007031%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211126 Wed, 27 Jan 2010 15:47:28 +0100 3211126 http://www.medworm.com/index.php?rid=3211125&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006980%2Fabstract%3Frss%3Dyes Miyoung Kim, Seon-Hee Yim, Nam-Sun Cho, Seong-Ho Kang, Dae-Hyun Ko, Bora Oh, Tae Young Kim, Hyun Jung Min, Cha Ja She, Hyoung Jin Kang, Hee Yung Shin, Hyo-Sup Ahn, Sung Soo Yoon, Byoung Kook Kim, Hai-Rim Shin, Kyu Sup Han, Han Ik Cho, Dong Soon Lee. Homozygous deletion of CDKN2A (p16, p14) and CDKN2B (p15) genes is a poor prognostic factor in adult but not in childhood B-lineage acute lymphoblastic leukemia: a comparative deletion and hypermethylation study. Cancer Genet Cytogenet 2009;195:59-65. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211125 Wed, 27 Jan 2010 15:47:28 +0100 3211125 http://www.medworm.com/index.php?rid=3211124&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006682%2Fabstract%3Frss%3Dyes Yoshimoto M, Graham C, Chilton-MacNeill S, Lee E, Shago M, Squire J, Zielenska M, Somers GR. Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC—DUX4 fusion gene event. Cancer Genet Cytogenet 2009;195:1-11. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211124 Wed, 27 Jan 2010 15:47:28 +0100 3211124 http://www.medworm.com/index.php?rid=3211123&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006074%2Fabstract%3Frss%3Dyes Sacrococcygeal teratomas are frequent congenital neoplasms showing an incidence of approximately 1:35,000–40,000 live births and a female-to-male ratio of approximately 4:1 . Malignant transformation has been found in approximately 1% of teratoma patients , frequently comprising squamous cell carcinoma, but also adenocarcinomas, sarcomas, and other malignancies. Thus, teratomas are suggested to be regarded as tumors with malignant potential, which calls for accurate treatment and long-term follow-up . Little is known about untreated teratomas. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211123 Wed, 27 Jan 2010 15:47:28 +0100 3211123 http://www.medworm.com/index.php?rid=3211122&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005925%2Fabstract%3Frss%3Dyes Many forms of preclinical evidence suggest outstanding sensitivity of BRCA1-related tumors to platinum compounds. However, relevant clinical data are limited by the report of Byrski et al. , who observed a 100% response rate in 10 breast cancer patients undergoing neoadjuvant cisplatin monotherapy. Here we present two more cases supporting the high efficacy of cisplatin in BRCA1 carriers. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211122 Wed, 27 Jan 2010 15:47:28 +0100 3211122 http://www.medworm.com/index.php?rid=3211121&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005810%2Fabstract%3Frss%3Dyes We have read with great interest the recent article by Iliszko et al. in which the authors described their cytogenetic findings on seven new cases of synovial sarcomas (SS), as well as pooled data on 12 previously described cases. They found that complex tumor-specific translocations involving chromosomes X and 18 were present in 2.5–11.7% of SS karyotypes (average 6.5%). As for DNA content, their series included a few tumors displaying hyperdiploidy, hypertriploidy, and hypertetraploidy, a noteworthy finding, given that most published SS cases with t(X;18) fall within the diploid range . Here, we describe some particular cytogenetic findings on a new case of biphasic SS, which provide additional insight on this exciting topic. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211121 Wed, 27 Jan 2010 15:47:27 +0100 3211121 http://www.medworm.com/index.php?rid=3211120&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002805%2Fabstract%3Frss%3Dyes We report here a second case of a 71 year-old male patient with essential thrombocytemia (ET) that 15 months later developed AML with a t(X;2)(q26;q11) as a sole abnormality at diagnosis. The patient was diagnosed with ET in August 2007 and was referred to our hospital because of thrombocytosis. A peripheral blood sample examination showed Hb 15.6g/dL, PLT 900 x 109/L and WBC 11x 109/L, with 65% neutrophils 23% lymphocytes, 12% monocytes. Bone marrow aspirate showed hypercellularity, with megakaryocytes notably increased. A diagnosis of ET was made at that time. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211120 Wed, 27 Jan 2010 15:47:27 +0100 3211120 http://www.medworm.com/index.php?rid=3211119&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006396%2Fabstract%3Frss%3Dyes Rearrangement or deletion of 6p in hematologic malignancies is an unusual finding . The majority of cases appear to be associated with therapy-related myelodysplastic syndrome (t-MDS) and therapy-related acute myeloid leukemia (t-AML), where deletion 6p is present in the context of a complex karyotype that frequently includes −5/del(5q) or −7/del(7q) . To our knowledge, deletion 6 p has not previously been reported as a sole abnormality in t-MDS or t-AML. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211119 Wed, 27 Jan 2010 15:47:27 +0100 3211119 http://www.medworm.com/index.php?rid=3211118&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006384%2Fabstract%3Frss%3Dyes This report presents a second patient with APL-like bone marrow morphology, absence of RARA rearrangement, and MYC amplification. In this case, the amplification happened in various concomitant or successive forms. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211118 Wed, 27 Jan 2010 15:47:27 +0100 3211118 http://www.medworm.com/index.php?rid=3211117&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005834%2Fabstract%3Frss%3Dyes Abstract: High hyperdiploidy with modal chromosome numbers between 50 and 65 is common in childhood acute lymphoblastic leukemia (ALL), occurring in 25–30% of the cases. This chromosomal constitution is associated with a very good prognosis. By contrast, near triploidy and tetraploidy are found in (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211117 Wed, 27 Jan 2010 15:47:27 +0100 3211117 http://www.medworm.com/index.php?rid=3211116&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006402%2Fabstract%3Frss%3Dyes Abstract: The circadian mode of cell division has been known for more than a century, but the association between circadian rhythms and mitosis is not yet clear. Synchronization of circadian oscillators with the outside world is achieved because light, or other external temporal cues, have acute effects on the levels of the clock's molecular components. Thus, an important question is whether environmental signals also affect transcription levels of cell machinery genes in a similar manner? In a microarray analysis, we have tested the influence of light pulses on the expression of transcripts in the mouse brain. Light pulses consistently affect transcription levels of genes that are essential and directly control the cell cycle mechanism, as well as levels of genes that are associated with... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211116 Wed, 27 Jan 2010 15:47:27 +0100 3211116 http://www.medworm.com/index.php?rid=3211115&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006049%2Fabstract%3Frss%3Dyes We present the characterization at the RNA level of an acute myeloid leukemia with a t(11;17)(q23;q25) and a MLL rearrangement demonstrated by FISH. Molecular analysis led to the identification of two coexistent in-frame MLL-SEPT9 fusion transcripts (variants 1 and 2), presumably resulting from alternative splicing. Real-time quantitative RT-PCR analysis showed that the relative expression of the MLL-SEPT9 fusion variant 2 was 1.88 fold higher than the relative expression of MLL-SEPT9 fusion variant 1. This is the first description of a MLL-SEPT9 fusion resulting in coexistence of two alternative splicing variants, each of which previously found isolated in myeloid leukemias. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211115 Wed, 27 Jan 2010 15:47:27 +0100 3211115 http://www.medworm.com/index.php?rid=3211114&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004282%2Fabstract%3Frss%3Dyes Abstract: Transient receptor potential vanilloid 2 (TRPV2), one of the members of TRP (transient receptor potential) superfamiliy of ion channels, has been suggested to contribute to pain associated with inflammation or neuropathy. To investigate its role in hepatocarcinogenesis, we examined the expression of TRPV2 in human hepatocellular carcinoma (HCC) samples and analyzed the association of TRPV2 expression with its clinical significance. TRPV2 expression in 55 HCC patients was examined by immunohistochemistry, and the correlation between TRPV2 levels and clinicopathologic parameters was analyzed. Thirteen paired HCC specimens and their nontumor counterparts were investigated by quantitative real-time polymerase chain reaction (RT-PCR) and Western blotting, respectively. Quantitative RT... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211114 Wed, 27 Jan 2010 15:47:26 +0100 3211114 http://www.medworm.com/index.php?rid=3211113&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005937%2Fabstract%3Frss%3Dyes In this study, to investigate the role of STAT3 on ovarian cancer cells, we used decoy oligodeoxynucleotide (ODN) technology to regulate STAT3 in SKOV3 and OVCAR3 cells in vitro. Cell invasive power and chemo-sensitivity were assessed in the cells transfected with STAT3 decoy ODN and control ODN. Western blot analysis was used to examine the expression of EMMPRIN, P-gp, and Akt. Results showed that STAT3 decoy ODN inhibited cancer cell invasive power and enhanced sensitivity to paclitaxel for SKOV3 and OVCAR3 cells. The mechanism involved the inhibition of EMMPRIN, P-gp, and pAkt by STAT3 decoy ODN. These three proteins were probably the target proteins of STAT3. These findings suggest that STAT3 is a key factor for ovarian cancer metastasis and chemoresistance. STAT3 decoy ODN may prove t... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211113 Wed, 27 Jan 2010 15:47:26 +0100 3211113 http://www.medworm.com/index.php?rid=3211112&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006025%2Fabstract%3Frss%3Dyes Abstract: Retinoid X receptors (RXRs) are nuclear receptors for retinoids that play a critical role in the regulation of growth and differentiation in normal and tumor cells. Deregulation of RXR expression has been reported in non-small cell lung cancer (NSCLC); however, the mechanism underlying the impaired expression of RXRs in lung cancer is not known. Aberrant methylation of promoter CpG islands is known to be a major mechanism for inactivation of tumor suppressor genes. We investigated the methylation status of the RXR genes in 139 surgically resected NSCLCs and correlated the results with the clinicopathologic characteristics of the patients. Methylation in the tumors was detected in all three genes: RXRA, 5.7%; RXRB, 4.3%; RXRG, 23.7%. Reverse transcriptase–polymerase chain reacti... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211112 Wed, 27 Jan 2010 15:47:26 +0100 3211112 http://www.medworm.com/index.php?rid=3211111&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006037%2Fabstract%3Frss%3Dyes Abstract: Translocations involving mixed lineage leukemia (MLL) gene at 11q23 are associated with de novo acute leukemia as well as therapy-related acute leukemia. More than 100 different translocations involving MLL have been described in acute leukemia, with more than 60 translocation partner genes characterized on the molecular level. In addition to various simple translocations affecting MLL, there are also complex forms involving three or more chromosomes. Here, we describe a novel three-way translocation of t(2;19;11)(p12;p13.3;q23) in a patient with acute lymphoblastic leukemia (ALL). In this translocation, the distal 19p13.3 joins the proximal 11q23 on der(11), whereas the distal 11q23 is translocated to 2p12. Three-way translocations involving 11q23 are often difficult to detect w... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211111 Wed, 27 Jan 2010 15:47:26 +0100 3211111 http://www.medworm.com/index.php?rid=3211110&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006104%2Fabstract%3Frss%3Dyes Abstract: Recent studies have implicated E-cadherin–160C/A single-nucleotide polymorphism (SNP) in susceptibility to and early onset of some cancers. We investigated the role of E-cadherin–160 C/A SNP in Chinese pancreatic carcinoma patients without dominant family history by genotyping 254 patients and 101 controls. The risk of cancer for CC genotype individuals was less than half that of AA individuals [odds ratio (OR) = 0.41; 95%confidence interval (95%CI) = 0.18–0.96]. Furthermore, patients with the CC and CA genotypes whose tumors were stages III (T4NxM0) and IV (TxNxM1) (OR = 0.38; 95%CI = 0.17–0.83), poorly differentiated (OR = 0.28; 95%CI = 0.09–0.84), and left-sided (OR = 0.45; 95%CI 0.21–0.98) were associated with significantly lower risk than AA patients. Young (60 y... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211110 Wed, 27 Jan 2010 15:47:26 +0100 3211110 http://www.medworm.com/index.php?rid=3211109&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006414%2Fabstract%3Frss%3Dyes Abstract: Aberrant methylation of promoter CpG islands is associated with transcriptional inactivation of tumor-suppressor genes in cancer. TFPI2, a Kunitz-type serine proteinase inhibitor, has been identified as a putative tumor-suppressor gene from genome-wide screening for aberrant methylation, using a microarray combined with the methyltransferase inhibitor 5-aza-2′-deoxycytidine (5-aza-dCyd) in various types of tumors. We assessed the methylation status of TFPI2 and investigated its expression pattern in human primary gastric cancer (GC) tissues and in GC cell lines. Hypermethylation of the promoter CpG island, which was observed in more or less all of GC cell lines, was prevalent in a high proportion of primary GC tissues (15/18, or 83%), compared with noncancerous (4/18, or 22%) o... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211109 Wed, 27 Jan 2010 15:47:26 +0100 3211109 http://www.medworm.com/index.php?rid=3211108&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006062%2Fabstract%3Frss%3Dyes In this study, aberration of the PARP1 gene and protein was further analyzed in human germ cell tumor cell lines. We found a nonheterozygous sequence alteration that causes the amino acid substitution Glu251Lys (E251K) located at a conserved peptide stretch of PARP-1 in cell line NEC8. Sequencing of 95 samples from Japanese healthy volunteers revealed that all the samples were homozygous for the wild-type alleles at M129T and E251K. The M129T allele is thus suggested to be a rare single-nucleotide polymorphism (SNP). We observed a decrease in auto-poly(ADP-ribosyl)ation activity of PARP-1 proteins harboring M129T or E251K amino acid substitution, but the difference was not statistically significant. The levels of PARP-1 and poly(ADP-ribosyl)ation were heterogeneous among germ cell tumor ce... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211108 Wed, 27 Jan 2010 15:47:26 +0100 3211108 http://www.medworm.com/index.php?rid=3211107&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006086%2Fabstract%3Frss%3Dyes Abstract: Chronic myeloproliferative neoplasms (MPN), including essential thrombocythemia (ET) and primary myelofibrosis (PMF), result from interactions between initiating growth factor mutations and secondary genomic changes. Codon 617 mutation of the JAK2 kinase is found in 40–50% of ET/PMF, whereas the mutation of codon 515 in the JAK2-linked thrombopoietin receptor MPL is found in approximately 20% of JAK2-unmutated cases of ET and PMF. Using quantitative mutation assays, we compared patterns of clinical and cytogenetic progression in MPL-mutated MPN (n=21) to those with JAK2 V617F mutation (n=383) or neither mutation (n=109). Among patients with MPL mutations, ET was seen in 9 and PMF in 12. Median mutation levels in pretreatment ET samples were significantly higher for MPL-mutated ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211107 Wed, 27 Jan 2010 15:47:25 +0100 3211107 http://www.medworm.com/index.php?rid=3211106&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900702X%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3211106 Wed, 27 Jan 2010 15:47:24 +0100 3211106 http://www.medworm.com/index.php?rid=3091746&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900675X%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091746 Wed, 16 Dec 2009 15:34:29 +0100 3091746 http://www.medworm.com/index.php?rid=3091745&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005846%2Fabstract%3Frss%3Dyes LKB1, also designated as serine threonine kinase 11, is a tumor suppressor gene located on chromosome 19p13.3 . Germline loss-of-function mutations in LKB1 predispose to Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder that is characterized by gastrointestinal hamartomatous polyposis, mucocutaneous melanin pigmentation, and an increased risk of cancer . (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091745 Wed, 16 Dec 2009 15:34:28 +0100 3091745 http://www.medworm.com/index.php?rid=3091744&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006013%2Fabstract%3Frss%3Dyes The World Health Organization indicates that lung cancer (LC) represents the main cause of death in many developed countries. In Ecuador, according to the National Cancer Registry, LC is the fourth cause of death among malignant tumors, followed by gastric, pancreatic, and breast cancer . Moreover, three provinces present the highest percentages of the disease — Guayas (32.8%), Pichincha (20.7%), and Manabí (7.5%) . It is estimated that this tendency will increase in the next years, and would place this disease as the principal cause of death by neoplasia. Therefore, it is important to perform the first mutation research in relation to the tyrosine kinase domain (TKD) of the EGFR gene in Ecuador. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091744 Wed, 16 Dec 2009 15:34:28 +0100 3091744 http://www.medworm.com/index.php?rid=3091743&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005780%2Fabstract%3Frss%3Dyes Medulloblastomas (MB) arise in the posterior fossa region of the brain and represent 20–25% of central nervous systems (CNS) tumors in childhood, occurring predominantly in the first decade of life . The World Health Organization (WHO) defined MB as a homogeneous grade IV neoplasm, even though a broad histopathologic spectrum was demonstrated recently . (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091743 Wed, 16 Dec 2009 15:34:28 +0100 3091743 http://www.medworm.com/index.php?rid=3091742&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005998%2Fabstract%3Frss%3Dyes Abstract: Published studies on the association between the progesterone receptor gene +331 G/A polymorphism and breast cancer risk are inconclusive, and meta-analysis is required to verify the association. Six studies, including a total of 6,849 cases and 6,589 controls, were subjected to meta-analysis. When all eligible subjects were pooled for meta-analysis, the AG + AA variant genotype was not associated with a significantly elevated breast cancer risk [odds ratio (OR) = 1.11; 95% confidence interval (95%CI) = 0.99–1.24; P = 0.071]. However, subgroup analysis revealed that the AG + AA variant genotype was associated with an increased risk of breast cancer in American (OR = 1.32; 95%CI = 1.10–1.58; P = 0.003), but not in European or Australian. We could carefully suggest that the pro... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091742 Wed, 16 Dec 2009 15:34:28 +0100 3091742 http://www.medworm.com/index.php?rid=3091741&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005901%2Fabstract%3Frss%3Dyes Abstract: Synovial sarcomas are high-grade malignant mesenchymal tumors that account for 10% of all soft-tissue sarcomas. Almost 95% of these tumors are characterized by a nonrandom chromosomal abnormality, t(X;18)(p11.2;q11.2), that is observed in both biphasic and monophasic variants. In this article, we present the case of a 57-year-old woman diagnosed with high-grade biphasic synovial sarcoma in which conventional cytogenetic analysis revealed the constant presence of a unique t(18;22)(q12;q13), in addition to trisomy 8. The rearrangement was confirmed by fluorescence in situ hybridization. The use of the whole chromosome painting probes WCPX did not detect any rearrangements involving chromosome X, although reverse-transcriptase polymerase chain reaction (PCR) analysis demonstrated th... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091741 Wed, 16 Dec 2009 15:34:28 +0100 3091741 http://www.medworm.com/index.php?rid=3091740&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005822%2Fabstract%3Frss%3Dyes Abstract: Entire ABL1 gene deletion without BCR/ABL1 rearrangement is a rare phenomenon, with only four cases previously reported. Here we describe a fifth case of ABL1 deletion without BCR/ABL1 rearrangement in an adolescent patient with precursor B-cell lymphoblastic leukemia (B-ALL) and review the relevant literature. It is not clear how ABL1 deletion affects leukemogenesis; however, it is plausible that ABL1 deletion without BCR/ABL1 rearrangement is a rare but recurrent genetic abnormality in precursor B-ALL patients. Further studies are needed to evaluate the extent of the submicroscopic defects in chromosome 9 including ABL1 gene deletion, as well as treatment response and prognosis in long-term follow-up of such patients. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091740 Wed, 16 Dec 2009 15:34:27 +0100 3091740 http://www.medworm.com/index.php?rid=3091739&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005226%2Fabstract%3Frss%3Dyes We report oligo-array comparative genomic hybridization findings in a case of malignant phyllodes tumor of the breast. In addition to gains of 1q and 5p, and losses of 10p and 13q14∼q22, this tumor had also losses of two regions to which tumor suppressor genes are mapped: 1p36 (SDHB) and 17q11.2 (NF1). Both genes are associated with hereditary cancer syndromes, including gastrointestinal stromal tumors. Whether these two genes played a role in the development or progression of this phyllodes tumor of the breast with a sarcomatous stromal component warrants further investigation of similar cases. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091739 Wed, 16 Dec 2009 15:34:27 +0100 3091739 http://www.medworm.com/index.php?rid=3091738&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005536%2Fabstract%3Frss%3Dyes Abstract: Medulloblastoma is a malignant invasive embryonal tumor of the cerebellum, representing 15–30% of pediatric brain tumors. An i(17q) abnormality appears in 40% of medulloblastomas, and usually not as a sole aberration; however, cytogenetic data for medulloblastoma are limited. Cytogenetic work-up of tumors is an important tool for diagnosis and prognosis, and in some cases has led to the development of new therapeutic modalities. In the present case, cytogenetic analysis of a medulloblastoma revealed an unbalanced karyotype in all cells analyzed: 46,XY,der(22)t(3;22)(q12;p11.1). This sole unbalanced translocation led to partial trisomy of 3q. The significance of this finding and its role in the pathogenesis of medulloblastoma need further clarification. (Source: Cancer Genetics ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091738 Wed, 16 Dec 2009 15:34:27 +0100 3091738 http://www.medworm.com/index.php?rid=3091737&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005184%2Fabstract%3Frss%3Dyes In this study, six main single-nucleotide polymorphisms of the CTLA4 gene were investigated in 127 lung cancer patients and 124 healthy control subjects: −1722T/C, −1661 A/G, −318 C/T, +49A/G, +1822 C/T, and +6230 A/G (CT60). Statistical analyses revealed no significant differences in the frequencies of genotypes, alleles, and haplotypes between patients and control subjects. We also could not find significant association between CTLA4 variants and any defined lung tumor type. These six single-nucleotide polymorphisms in CTLA4 were not associated with susceptibility to lung cancer in Iranian population. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091737 Wed, 16 Dec 2009 15:34:27 +0100 3091737 http://www.medworm.com/index.php?rid=3091736&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005779%2Fabstract%3Frss%3Dyes Abstract: Polymorphisms of the TP53 gene codon 72 exhibit less effective function in tumor suppression and usually are associated with human cancer. To investigate the frequency of proline and arginine alleles of TP53 codon 72, the present study analyzed the DNA from blood samples of 30 Iranian women with endometrial cancer, in comparison with 32 healthy women. A Pro/Pro genotype was associated with increased endometrial cancer risk (odds ratio OR = 3.7, 95% confidence interval CI = 0.539–25.59). In patients, Pro allele frequency (68%) was higher than Arg frequency (32%), and higher also than Pro frequency in healthy control subjects (55%) (OR = 1.9, 95% CI = 0.903–3.893). It could be that the Pro allele is less apoptotic than the Arg allele, and that the Arg allele most probably activ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091736 Wed, 16 Dec 2009 15:34:27 +0100 3091736 http://www.medworm.com/index.php?rid=3091735&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005792%2Fabstract%3Frss%3Dyes In this study, we retrospectively analyzed cytogenetic features at diagnosis and during follow-up in 85 patients with primary MDS. Cytogenetic evolution occurred in 18 of the 85 patients (21%), with chromosomes 8, 5, and 1 most often involved. Patients with higher levels of marrow blasts (P = 0.034), more advanced stages of World Health Organization (WHO) subtypes (44% vs. 16%, P = 0.035), and higher risk International Prognostic Scoring System (IPSS) subgroups (47% vs. 16%, P = 0.021) had higher incidences of developing cytogenetic evolution. Furthermore, the median survival of patients in the group with cytogenetic evolution was 25.8 months, compared with 45.4 months for patients in the group without cytogenetic evolution (P = 0.01). The same result was also found for time to progression... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091735 Wed, 16 Dec 2009 15:34:27 +0100 3091735 http://www.medworm.com/index.php?rid=3091734&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005755%2Fabstract%3Frss%3Dyes Abstract: We studied the possible association between Ala16Val manganese-dependent superoxide dismutase (MnSOD) gene genotypes and breast cancer lymph node status because previous investigations suggested an association between the AA genotype and breast cancer. We included 281 women (188 controls and 93 cases of invasive breast cancer with axillary lymph node metastasis (LN+) and without lymph node metastasis (LN–). DNA was extracted from paraffin-embedded tumor tissue or peripheral blood leukocytes, and MnSOD polymorphism was determined by polymerase chain reaction—restriction fragment length polymorphism techniques. In addition, the immunohistochemical profile (p53, Ki-67 and estrogen/progesterone receptors) was also compared between invasive breast cancer groups and different MnSOD... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091734 Wed, 16 Dec 2009 15:34:27 +0100 3091734 http://www.medworm.com/index.php?rid=3091733&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005238%2Fabstract%3Frss%3Dyes Abstract: Among gynecological malignancies, ovarian cancer is the leading cause of death. The overall 5-year survival rate remains poor, and the pathogenesis is unknown. The interleukin-23 receptor (IL23R) is known to be critically involved in the carcinogenesis of different malignant tumors. To assess the role of IL23R in ovarian cancer, we conducted a study to investigate the polymorphisms of the IL23R gene in 96 Han Chinese women with histologically proven ovarian cancer. Polymerase chain reaction–restriction fragment length polymorphism was used for genotyping. In all three single nucleotide polymorphisms of IL23R studied, the distribution of genotype and allele frequencies of rs10889677 differed significantly between patients and controls. The frequency of allele C of rs10889677 was... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091733 Wed, 16 Dec 2009 15:34:27 +0100 3091733 http://www.medworm.com/index.php?rid=3091732&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005743%2Fabstract%3Frss%3Dyes Abstract: The thyroid hormone receptors (TR) have three major isoforms, TRα1, TRα2, and TRβ1; these are ligand-dependent nuclear transcription factors. THRB, the gene encoding TRβ1, is considered a potential cancer suppressor. The mechanism of its inactivation is not yet clear. Aberrant silencing of THRB in breast cancer tissue and plasma by promoter hypermethylation was investigated in the present study. Reverse transcriptase–polymerase chain reaction (RT-PCR) was used to examine THRB mRNA expression in the breast cancer tissues. Methylation-specific polymerase chain reaction (MSP) combined with nested PCR was used to determine the methylation status of the THRB gene promoter region in 40 cancer tissue and 40 plasma samples from breast cancer patients. Methylation status of MSP prod... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091732 Wed, 16 Dec 2009 15:34:27 +0100 3091732 http://www.medworm.com/index.php?rid=3091731&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005731%2Fabstract%3Frss%3Dyes Abstract: The purpose of this study was to evaluate the genetic background of colorectal cancer according to the tumor site, and to investigate the impact of the genetic features regarding the lesion location of colorectal cancer. Microsatellite instability (MSI), DNA index, and the mutation and loss of heterozygosity of the TP53 gene were systemically examined in 180 Japanese colorectal cancer cases. The correlation between these genetic features and clinicopathologic factors was analyzed. A logistic regression was undertaken to analyze the association between genetic features and tumor locations. The data demonstrated location-related genetic differences in colorectal cancer. The proximal subset was distinct in patterns of genomic instability and TP53 gene defects. The genetic features o... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091731 Wed, 16 Dec 2009 15:34:26 +0100 3091731 http://www.medworm.com/index.php?rid=3091730&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005214%2Fabstract%3Frss%3Dyes Abstract: The human SLC5A8 gene is a tumor suppressor. Its silencing may contribute to the carcinogenesis and progression of various tumors, which makes this gene an attractive molecular marker and a potential target for diagnosis and therapy. Little is known about transcriptional mechanisms controlling SLC5A8 gene expression. To better understand the molecular mechanisms regulating SLC5A8 expression, we characterized the 5′-regulatory region and a part of exon 1. Luciferase reporter assays of deletion mutants of SLC5A8 promoter demonstrated that a 295-bp region is essential for the basal promoter activity of the SLC5A8 gene. Further analysis indicated that the CCAAT boxes and GC boxes were involved in positive regulation of SLC5A8 promoter. Overexpression of two transcription factors, C... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091730 Wed, 16 Dec 2009 15:34:26 +0100 3091730 http://www.medworm.com/index.php?rid=3091729&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005858%2Fabstract%3Frss%3Dyes Abstract: A subset of uterine leiomyomas (UL) shows chromosomal rearrangements of the region 12q14∼q15, leading to an overexpression of the high-mobility group protein A2 gene (HMGA2). Recent studies identified microRNAs of the let-7 family as post-transcriptional regulators of HMGA2. Intragenic chromosomal breakpoints might cause truncated HMGA2 transcripts lacking part of the 3' UTR. The corresponding loss of let-7 complementary sites (LCS) located in the 3' UTR would therefore stabilize HMGA2 mRNA. The aim of this study was to check UL with rearrangements of the chromosomal region 12q14∼15 for truncated HMGA2 transcripts by real-time reverse-transcription polymerase chain reaction. In 8/13 leiomyomas with aberrations of chromosomal region 12q15, the results showed the presence of th... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091729 Wed, 16 Dec 2009 15:34:26 +0100 3091729 http://www.medworm.com/index.php?rid=3091728&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005767%2Fabstract%3Frss%3Dyes Abstract: With the use of genome-wide cDNA microarrays, we investigated the transcriptome profile of the human osteosarcoma Sa OS and U-2 OS cell lines. In all, 1,098 chip entries were differentially regulated in the two cell lines; of these, 796 entries corresponded to characterized mRNAs. The identified genes are mostly expressed in epithelial tissues and localize on chromosomes 1, 10, and 20. Furthermore, signaling cascades for cell cycle, glycolysis, and gluconeogenesis, the p53 pathway, cell communication, and focal adhesion were found to be differently regulated in the two cell lines. The transcriptome profiles reported here provide novel information about the considerable molecular differences between these two widely used human osteosarcoma cell lines. (Source: Cancer Genetics and ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091728 Wed, 16 Dec 2009 15:34:26 +0100 3091728 http://www.medworm.com/index.php?rid=3091727&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006748%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3091727 Wed, 16 Dec 2009 15:34:26 +0100 3091727 http://www.medworm.com/index.php?rid=3066054&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006475%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066054 Tue, 08 Dec 2009 15:33:36 +0100 3066054 http://www.medworm.com/index.php?rid=3066053&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004816%2Fabstract%3Frss%3Dyes Abstract: The t(16;21)(q24;q22), a rare chromosomal translocation involving chromosome 21 in de novo and therapy-related acute myeloid leukemia (AML), produces a RUNX1–CBFA2T3 fusion gene (previously AML1–MTG16) fusion gene. The translocation has been reported in 20 patients with AML, with eosinophilia present in 3 cases. Here we report a pediatric case of t(16;21)(q24;q22) in de novo AML with eosinophilia and suggest that eosinophilia is a hematologic characteristic of at least a subpopulation of AML with t(16;21)(q24;q22). A 4-year-old Korean girl was admitted with complaints of pale appearance and dizziness, and was diagnosed with acute myelomonocytic leukemia. On admission, laboratory evaluation revealed hemoglobin at 3.3 g/dL, platelets at 9.0 × 109/L, and white blood cells at 9.... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066053 Tue, 08 Dec 2009 15:33:35 +0100 3066053 http://www.medworm.com/index.php?rid=3066052&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004257%2Fabstract%3Frss%3Dyes Abstract: Amplified MYCN, common in neuroblastomas, can be detected as double minutes (dmin) or homogenously staining chromosomal regions (hsr). Expulsion of amplified MYCN has only been described in dmin. We used hydroxyurea (HU), which accelerates the expulsion of amplified genes and cytostatics (used in neuroblastoma therapy), to describe MYCN amplification changes after chemotherapy. We used IMR-32, SK-N-AS, UKF-NB-2, UKF-NB-3, UKF-NB-4, and derived sublines resistant to doxorubicin, cisplatin, and vincristine. The loss of amplified MYCN copies was investigated using comparative genomic hybridization and by fluorescent in situ hybridization. We found expulsion of amplified MYCN from hsr in UKF-NB-4 and IMR-32 cell lines, and determined the exact number of amplified MYCN copies. After t... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066052 Tue, 08 Dec 2009 15:33:35 +0100 3066052 http://www.medworm.com/index.php?rid=3066051&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004154%2Fabstract%3Frss%3Dyes In this report, we describe two new cases in which conventional cytogenetics demonstrated the presence of abnormal clones. Combining karyotypes of the nine previously reported cases, we found that the most frequent structural rearrangements involved chromosome 9p. Including the two cases reported here, 5/11 cases involved 9p, and four of these involved the 9p21∼p22 region. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066051 Tue, 08 Dec 2009 15:33:35 +0100 3066051 http://www.medworm.com/index.php?rid=3066050&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004130%2Fabstract%3Frss%3Dyes We report on the occurrence of an unbalanced translocation between chromosomes 1 and 16 as a single abnormality in an 81-year-old patient with myelodysplastic syndrome (MDS) diagnosed as refractory cytopenia with multilineage dysplasia. The derivative chromosome, causing trisomy 1q and monosomy 16q, was described on the basis of fluorescent in situ hybridization results as der(1)t(1;16)(p11;p11.1). Review of the literature showed that the der(1)t(1;16) is a rare but nonrandom abnormality in MDS, being reported to date in an additional seven MDS cases. Notably, all MDS patients carrying t(1;16) described to date are men, suggesting a putative association of this translocation with male gender in the context of MDS. The unbalanced nature of the t(1;16)(p11;p11.1) indicates that gain of 1q an... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066050 Tue, 08 Dec 2009 15:33:35 +0100 3066050 http://www.medworm.com/index.php?rid=3066049&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005196%2Fabstract%3Frss%3Dyes Abstract: Hypoxia, one of the key tumor microenviromental factors, promotes genetic instability, which is the hallmark of human cancers. Many recent studies have demonstrated that hypoxia by itself can lead to conditions that elevate mutagenesis and inhibit the DNA repair process in cancer. The aim of this study was to investigate the cytogenetic damage and DNA repair functions in human peripheral lymphocytes exposed to hypoxia by means of sister chromatid exchange and nuclear and mitochondrial microsatellite instability (nMSI and mtMSI), respectively. Primary lymphocyte cultures obtained from blood samples of 40 healthy donors were exposed to hypoxia for 12 and 24hours. Genomic DNA was then isolated from the fixed lymphocytes to analyze the DNA repair process by nMSI and mtMSI. The presen... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066049 Tue, 08 Dec 2009 15:33:35 +0100 3066049 http://www.medworm.com/index.php?rid=3066048&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004798%2Fabstract%3Frss%3Dyes Abstract: The purpose of this study was to examine whether functional polymorphisms in the cytochrome P450 (CYP) enzyme genes affect the risk of developing larynx and hypopharynx squamous cell carcinoma (SCC). We investigated CYP1A1, CYP1B1, CYP2E1, and CYP3A4 polymorphisms in 278 patients with laryngeal and hypopharyngeal SCC and 278 control subjects by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). Subjects with the CYP1A1 3798CC or TC genotype had an odds ratio (OR) of 3.26 (95% confidence interval CI=1.76−6.03) or 1.56 (95% CI=1.06−2.31), compared with those with the TT genotype. An increased risk was also associated with the CYP1A1 462Val/Val genotype (OR=2.39, 95% CI=1.11−5.16), compared with the TT genotype. Haplotype analysis suggested a syne... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066048 Tue, 08 Dec 2009 15:33:34 +0100 3066048 http://www.medworm.com/index.php?rid=3066047&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005809%2Fabstract%3Frss%3Dyes Abstract: Transforming growth factor-β1 (TGFβ1) plays a significant role in regulating cellular proliferation and apoptosis. The TGFβ1 T29C polymorphism reportedly affects cancer risk, but pertinent studies offer conflicting results. We therefore performed a meta-analysis based on 40 studies from 32 publications, assessing the strength of the association using odds ratios with 95% confidence intervals. Overall, no evidence has indicated that individuals carrying CC or CT genotypes had significantly increased cancer risks, compared with TT genotype carriers [CC vs. TT: odds ratio (OR)=1.10, 95% confidence interval (95% CI)=1.00–1.21, P=0.06; CT vs. TT: OR=1.07, 95% CI=0.99–1.16, P=0.09). However, stratified analysis by cancer type and ethnicity indicated a significantly increased ris... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066047 Tue, 08 Dec 2009 15:33:34 +0100 3066047 http://www.medworm.com/index.php?rid=3066046&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005202%2Fabstract%3Frss%3Dyes We report the fusion of HMGA1 to the intergenic region between LPP and TPRG1 in a lipoma. Conventional cytogenetic analysis of an abdominal-wall lipoma diagnosed in a 60-year-old woman showed a t(3;6)(q27;p21). Molecular cytogenetic mapping of available paraffin-embedded tissues revealed the fusion of HMGA1 to a 139-kb genomic region between the LPP and TPRG1 loci. No rearrangement of HMGA2 was found. The biological function of this novel fusion could be similar to the role of HMGA2–LPP in tumorigenesis. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066046 Tue, 08 Dec 2009 15:33:34 +0100 3066046 http://www.medworm.com/index.php?rid=3066045&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004907%2Fabstract%3Frss%3Dyes In this study, we analyzed 149 bone marrow aspirate or peripheral blood specimens from patients diagnosed with B-CLL, evaluated by four different laboratory studies: morphology examination, three- or four-color flow cytometry analysis, conventional cytogenetics, and fluorescence in situ hybridization (FISH) with a dual-color, break-apart IGH@ probe in addition to a B-CLL FISH probe panel for del(11)(q22) ATM, del(13)(q14.3), del(17)(p13) TP53, and +12. An IGH@ rearrangement was found by FISH in 24 cases (16.0%). Of these 24 cases, 16 (67%) contained chromosomal abnormalities, including t(14;19)(q32;q13.2), t(8;14)(q24;q32), and t(14;18)(q32;q21). In addition, a cryptic deletion of the immunoglobulin heavy variable region (IGHV) was revealed. Using 30% as the cutoff for positive CD38 expres... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066045 Tue, 08 Dec 2009 15:33:34 +0100 3066045 http://www.medworm.com/index.php?rid=3066044&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004828%2Fabstract%3Frss%3Dyes Abstract: Energy deregulation and abnormalities of tumor cell metabolism are critical issues in understanding cancer. Hereditary leiomyomatosis renal cell carcinoma (HLRCC) is an aggressive form of RCC characterized by germline mutation of the Krebs cycle enzyme fumarate hydratase (FH), and one known to be highly metastatic and unusually lethal. There is considerable utility in establishing preclinical cell and xenograft models for study of disorders of energy metabolism, as well as in development of new therapeutic approaches targeting of tricarboxylic acid (TCA) cycle enzyme–deficient human cancers. Here we describe a new immortalized cell line, UOK 262, derived from a patient having aggressive HLRCC-associated recurring kidney cancer. We investigated gene expression, chromosome profil... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066044 Tue, 08 Dec 2009 15:33:34 +0100 3066044 http://www.medworm.com/index.php?rid=3066043&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004804%2Fabstract%3Frss%3Dyes Abstract: ADAMTS (a disintegrin and metalloprotease with thrombospondin motifs) is a family of proteins characterized by the presence of a metalloproteinase domain linked to a variety of specialized ancillary domains. The ADAMTS9 gene (ADAM metallopeptidase with thrombospondin type 1 motif, 9); has been characterized as a novel tumor suppressor gene in and epigenetically silenced in association with lymph node metastases in nasopharyngeal carcinoma. High-resolution melting (HRM) analysis has been used as a tool for analysis of promoter methylation. Here, we report HRM analysis used to detect the methylation levels of ADAMTS9 gene in 100 gastric cancers, 100 colorectal cancers, 70 pancreatic cancers, and an equal number of adjacent normal tissues. The frequency of ADAMTS9 methylation in all... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066043 Tue, 08 Dec 2009 15:33:34 +0100 3066043 http://www.medworm.com/index.php?rid=3066042&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004294%2Fabstract%3Frss%3Dyes This study was performed to evaluate the effect of polymorphisms and haplotypes of the XRCC1 gene on the risk of diffuse large B-cell lymphoma (DLBCL) and treatment outcomes after rituximab plus cyclophosphamide/doxorubicin/vincristine/prednisone (R-CHOP) chemotherapy in a Korean population. Carriers of XRCC1 194 variant genotypes had a significantly increased risk of DLBCL [adjusted odds ratio (OR), 1.57; 95% confidence interval (95% CI), 1.06–2.32; P = 0.028] among three polymorphisms of XRCC1 Arg194Trp, Arg280His, and Arg399Gln in 145 patients with DLBCL and in 515 healthy controls. Three polymorphisms of XRCC1 showed very strong linkage disequilibrium (LD) and consisted of one haploblock. The frequency of XRCC1 haplotype A (194Arg-280Arg-399Arg) was significantly lower in DLBCL patie... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066042 Tue, 08 Dec 2009 15:33:34 +0100 3066042 http://www.medworm.com/index.php?rid=3066041&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004245%2Fabstract%3Frss%3Dyes Abstract: Nasopharyngeal carcinoma (NPC) cell lines 5-8F (high tumorigenic and metastatic) and 6-10B (low tumorigenic and metastatic) are subclones of SUNE1. To address their biological differences, three biologic repeats of expression microarray analysis were performed. Only 60 differently expressed genes were identified between the two cell lines. These genes were randomly distributed on all the chromosomes. Gene ontology analysis showed that most of these genes participated in cellular and metabolic processes, and the primary molecular functions of each were catalytic activity, ion binding, and protein binding. Literature mining revealed that these genes were specifically related to apoptosis, cell cycle, metastasis, chemokines, and immunoediting, but not cancer, NPC, stem cells, lympha... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066041 Tue, 08 Dec 2009 15:33:34 +0100 3066041 http://www.medworm.com/index.php?rid=3066040&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004221%2Fabstract%3Frss%3Dyes Abstract: Overall modes of differential gene expressions were analyzed between human oral/salivary carcinoma cell systems with (MK-1 and ACCM) and without (ZK-1/ZK-2 and ACC2/ACC3) metastatic potential by using micro-array analysis with cancer-associated DNA chips to determine the kinds of genes associated with metastatic behaviors. MK-1 and/or ACCM showed lower levels of gene expression in extracellular matrix-related molecules, such as collagen type IV, laminin, and adhesion molecules such as cadherin 2, but higher levels of genes which control extracellular matrix degradation, such as MMP 9, as well as cell growth and cycle, such as FGF7 and cyclin D1. Among the differentially expressed genes, similar protein expression tendencies for FGF7, laminin, cyclin D1, and collagen type IV were ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066040 Tue, 08 Dec 2009 15:33:34 +0100 3066040 http://www.medworm.com/index.php?rid=3066039&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900421X%2Fabstract%3Frss%3Dyes In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization. The PAX8-PPARG translocation was detected in 2/18 FTC (11.1%). In addition, 2/18 (11.1%) FTC and 1/5 (20%) HCA showed 3p25 aneusomy only. The frequency of the translocation detected in the study was lower compared to the earlier studies conducted in Western countries. This might be attributed to the ethnic background and geographic location. Detection of either the PAX8-PPARG translocation or the 3p25 aneusomy in FTC indicates that these are inde... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066039 Tue, 08 Dec 2009 15:33:33 +0100 3066039 http://www.medworm.com/index.php?rid=3066038&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004233%2Fabstract%3Frss%3Dyes Abstract: The molecular pathology of meningiomas and shwannomas involve the inactivation of the NF2 gene to generate grade I tumors. Genomic losses at 1p and 14q are observed in both neoplasms, although more frequently in meningiomas. The inactivation of unidentified genes located in these regions appears associated with tumor progression in meningiomas, but no clues to its molecular/clinical meaning are available in schwannomas. Recent microarray gene expression studies have demonstrated the existence of molecular subgroups in both entities. In the present study, we correlated the presence of genomic deletions at 1p, 14q, and 22q with the expression patterns of 96 tumor-related genes obtained by cDNA low-density microarrays in a series of 65 tumors including 42 meningiomas and 23 schwanno... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066038 Tue, 08 Dec 2009 15:33:33 +0100 3066038 http://www.medworm.com/index.php?rid=3066037&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809006463%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=3066037 Tue, 08 Dec 2009 15:33:33 +0100 3066037 http://www.medworm.com/index.php?rid=2904214&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005330%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904214 Mon, 19 Oct 2009 14:41:12 +0100 2904214 http://www.medworm.com/index.php?rid=2904213&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003768%2Fabstract%3Frss%3Dyes More than 100 different chromosomal translocations in association with MLL rearrangements and at least 64 fusion partner genes of MLL rearrangements have been identified and reported in the literature . Among these, five MLL rearrangements, accounting for ∼80% of all MLL-translocation-bearing leukemias, are most frequent: t(4;11)(q21;q23), MLL/AFF1 (previously MLLT2; alias AF4); t(9;11)(p22;q23), MLL/MLLT3 (alias AF9); t(11;19)(q23;p13.3), MLL/MLLT1 (alias ENL); t(10;11)(p12;q23), MLL/MLLT10 (alias AF10); and t(6;11)(q27;q23), MLL/MLLT6 (alias AF6). (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904213 Mon, 19 Oct 2009 14:41:11 +0100 2904213 http://www.medworm.com/index.php?rid=2904212&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003343%2Fabstract%3Frss%3Dyes Plasma cell myeloma, a bone-marrow-based, multifocal plasma cell neoplasm, comprises ∼1% of malignant tumors and 10–15% of hematopoietic neoplasms, and causes 20% of deaths from hematologic cancers. Recurrent genetic abnormalities can be detected by conventional cytogenetic studies, but more commonly by interphase fluorescence in situ hybridization (I-FISH). The most frequent chromosomal fusion translocations involve the immunoglobulin heavy locus (IGH@) with one of five oncogenes: FGFR3, CCND3, CCND1, MAF, or MAFB. Chromosomal aneuploidy with gains and losses of chromosomes 3, 5, 7, 9, 11, 15, 19, and 21 is also frequently observed, along with deletions on chromosomes 13 (13q14) and 17 (17p13) . Here, we report a novel case of amplification of the FGFR3 gene region, 4p16.3, in the abs... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904212 Mon, 19 Oct 2009 14:41:11 +0100 2904212 http://www.medworm.com/index.php?rid=2904211&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002398%2Fabstract%3Frss%3Dyes Abstract: Gastric cancer is the fourth most frequent type of cancer and the second most frequent cause of cancer mortality worldwide. Only a modest number of gastric carcinoma cell lines have been isolated thus far. Here we describe the establishment and cytogenetic characterization of three new gastric cancer cell lines obtained from primary gastric adenocarcinoma (ACP02 and ACP03) and cancerous ascitic fluid (AGP01) of individuals from northern Brazil. ACP02, ACP03, and AGP01 cell lines are presently in the 60th passage. The cell lines grew in a disorganized single layer with some agglomerations and heterogeneous divisions (bipolar and multipolar). All cell lines exhibited a composite karyotype with several clonal chromosome alterations. Trisomy 8 was the most frequent alteration. Chrom... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904211 Mon, 19 Oct 2009 14:41:11 +0100 2904211 http://www.medworm.com/index.php?rid=2904210&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460808001544%2Fabstract%3Frss%3Dyes We report a case of pulmonary sclerosing hemangioma in a 61-year-old woman with a neoplastic node 1 cm in diameter. The karyotype was 46,XX,t(8;18),der(14;15),+14 in all the cells analyzed. PTEN (10q23) and IgH (14q32) probes were analyzed in interphase nuclei and paraffin-embedded tissues of tumor cells. These chromosome abnormalities could provide information about the relationship of genetic changes to the biological properties of sclerosing hemangioma tumors. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904210 Mon, 19 Oct 2009 14:41:11 +0100 2904210 http://www.medworm.com/index.php?rid=2904209&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003355%2Fabstract%3Frss%3Dyes Abstract: The simultaneous occurrence of mutations in two different tumor suppressor genes in the same individual is a very rare event. Here we report the case of a woman in whom germline mutations in both MEN1 and BRCA1 were identified. The severity of MEN1-related biochemical and clinical findings did not significantly differ from that for other affected family members lacking the BRCA1 mutation, except for the development of an extremely large visceral lipoma; the proband has not developed any BRCA1-related malignancies. We explore genetic and molecular rationales for an association between these neoplastic processes. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904209 Mon, 19 Oct 2009 14:41:11 +0100 2904209 http://www.medworm.com/index.php?rid=2904208&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003331%2Fabstract%3Frss%3Dyes We report a case of chronic myeloid leukemia in chronic stage with 48 chromosomes and four BCR/ABL1 fusion signals on two out of three chromosomes 9 and two signals on the two Philadelphia chromosomes. These abnormalities were detected by both conventional cytogenetic analysis and metaphase and interphase fluorescence in situ hybridization studies in ∼90% of the cells at diagnosis. Real-time–polymerase chain reaction studies on peripheral blood showed b3a2(p210) and e1a2(p190) BCR/ABL1 fusion transcripts. During treatment with imatinib, the patient was asymptomatic with hematological remission. Cytogenetic and fluorescence in situ hybridization analysis revealed that only 6.6% of cells had the initial majority line karyotype, with disappearance of the p210 but increased p190 transcript... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904208 Mon, 19 Oct 2009 14:41:10 +0100 2904208 http://www.medworm.com/index.php?rid=2904207&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003264%2Fabstract%3Frss%3Dyes We describe here the fourth reported case of lipoma showing a HMGA2–NFIB fusion, and the first one in a child. We found a translocation t(9;12)(p22;q14) in a deep-seated intramuscular lipoma occurring in the buttock of a 5-year-old boy. By fluorescence in situ hybridization and reverse-transcription polymerase chain reaction, we have shown that the translocation t(9;12) resulted in an in-frame fusion of the first four exons of HMGA2 with the last exon of NFIB. Intramuscular lipomas are very rare in childhood. Our results confirm that lipomas containing NFIB rearrangements may be related to peculiar clinicohistologic features, including large size, deep situation, infiltration of surrounding muscles, or precocious occurrence. Both the truncation of HMGA2 and the nature of its fusion partn... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904207 Mon, 19 Oct 2009 14:41:10 +0100 2904207 http://www.medworm.com/index.php?rid=2904206&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900332X%2Fabstract%3Frss%3Dyes Abstract: The biological behavior of childhood B-lineage acute lymphoblastic leukemia (B-ALL) is different from that of adults. We performed a comprehensive analysis of the deletion and the methylation profile of CDKN2A (hereafter identified separately as p16 and p14, for the different proteins encoded) and CDKN2B (hereafter p15) in 91 newly diagnosed B-ALL patients (61 children, 30 adults). The prognostic significance of the profiles of these genes and the association between alterations in these genes and known cytogenetic prognostic factors (BCR/ABL; ETV6/RUNX1, formerly TEL/AML1; MLL rearrangement; and ploidy changes of chromosomes) were also assessed. The prevalence of homozygous deletion, hemizygous deletion, and no deletion of the 9p21 region was 11.5%, 16.4%, and 72.1%, respectivel... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904206 Mon, 19 Oct 2009 14:41:10 +0100 2904206 http://www.medworm.com/index.php?rid=2904205&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003318%2Fabstract%3Frss%3Dyes Abstract: Synovial sarcoma (SS) is characterized by the t(X;18)(p11.2;q11.2) chromosomal translocation detected in >95% of cases. Through this translocation, one of the SYT genes, SYT4 on chromosome 18, is fused to one of the SSX genes on chromosome X. SYT4–SSX1 is the most common fusion subtype, present in approximately two thirds of the cases, followed by SYT4–SSX2 and, very rarely, SYT4–SSX4. Variant fusion transcripts occur less often, and most of the reported cases are the result of small insertions. Described here is a novel fusion variant containing a small deletion resulting in an alternative reading frame of the SSX part of the fusion gene. This fusion transcript may provide further insight into the oncogenic function of the SSX partner of the fusion gene. (Source: Cancer Ge... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904205 Mon, 19 Oct 2009 14:41:10 +0100 2904205 http://www.medworm.com/index.php?rid=2904204&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003240%2Fabstract%3Frss%3Dyes Abstract: Cigarette smoking is the most important risk factor for bladder cancer. Moreover, epidemiologic studies have implicated several genetic variations interfering with methyl group metabolisms in susceptibility for a variety of cancers. Examples of these variations can be found in genes of the folate metabolic pathway, which is crucial in the provision of methyl groups for DNA, RNA, and protein methylation, as well as in purine and pyrimidine synthesis. We conducted a case–control study to examine the relationship between the methylenetetrahydrofolate reductase (MTHFR C677 T and MTHFR A1298C), methionine synthase (5-methyltetrahydrofolate-homocysteine methyltransferase, MTR A2756 G), methionine synthase reductase (5-methyltetrahydrofolate-homocysteine methyltransferase reductase, M... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904204 Mon, 19 Oct 2009 14:41:09 +0100 2904204 http://www.medworm.com/index.php?rid=2904203&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002957%2Fabstract%3Frss%3Dyes Abstract: B-cell chronic lymphocytic leukemia (CLL) follows a heterogeneous clinical course, for which several biological markers may predict clinical outcome. Cytogenetic aberrations are considered major prognostic indicators for predicting the survival of CLL patients. Given the difficulties in obtaining abnormal metaphases in CLL, fluorescent in situ hybridization (FISH) with specific probes is generally used to detect the most frequent abnormalities. To determine the best strategy for identifying cytogenetic abnormalities, we compared results obtained by FISH analysis on peripheral blood mononuclear cells with those obtained by FISH after culture with mitogens. We studied 46 CLL patients selected from two different institutions. The most frequent structural aberrations leading to loss ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904203 Mon, 19 Oct 2009 14:41:09 +0100 2904203 http://www.medworm.com/index.php?rid=2904202&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900288X%2Fabstract%3Frss%3Dyes Abstract: Genomic and immunologic surveillance mechanisms are crucial in protection from cancer. The tumor suppressor protein p53, encoded by TP53, is a major regulator of genome surveillance. Among the natural sequence variants of TP53, rs1042522 (R72P) modifies the risk for solid tumors. To investigate its relevance in childhood acute lymphoblastic leukemia (ALL) susceptibility, we genotyped 114 cases and 414 newborn controls from Wales (UK) for polymorphisms in TP53 (R72P), its negative regulator MDM2 (single-nucleotide polymorphism SNP309, rs2279744), and selected HLA complex genes whose products interact with TP53. TP53 R72P showed a risk association with gene dosage effect (P=0.002) resulting in a strong association of homozygous genotype (OR=2.9, 95% CI=1.5–5.6) and no sex effect.... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904202 Mon, 19 Oct 2009 14:41:09 +0100 2904202 http://www.medworm.com/index.php?rid=2904201&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809001848%2Fabstract%3Frss%3Dyes Abstract: Telomeres are specific repetitive DNA sequences that cap and stabilize the ends of chromosomes. Functional telomeres are essential for the normal segregation and maintenance of chromosomes during mitotic and meiotic division. Pre-eclampsia, a pregnancy-specific syndrome of increased blood pressure accompanied by proteinuria, is often associated with growth deficiency in the fetus. Oxidative stress is a major component in the pathophysiology of pre-eclampsia. In contrast to the nonoverlapping nature of telomeres in normal nuclei, telomeres of tumor nuclei tend to form aggregates (TAs) in various numbers and sizes. The formation of TAs represents a stress-related process and is independent of telomere length and telomerase activity. The aim of this study was to evaluate TA formatio... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904201 Mon, 19 Oct 2009 14:41:09 +0100 2904201 http://www.medworm.com/index.php?rid=2904200&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809001514%2Fabstract%3Frss%3Dyes This study evaluated TA formation in amniocytes from trisomy 21 pregnancies, compared with amniocytes from normal euploid pregnancies. A commercially available peptide nucleic acid telomere kit was used to evaluate TA formation, using two-dimensional fluorescence microscopy. Significantly higher frequencies of TA were found in trisomy 21 amniocytes than in amniocytes from normal pregnancies. The TAs found in trisomy 21 amniocytes apparently represent an additional parameter that reflects the high genetic instability of this syndrome and its recognized predisposition to develop leukemia and other malignancies. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904200 Mon, 19 Oct 2009 14:41:09 +0100 2904200 http://www.medworm.com/index.php?rid=2904199&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809000442%2Fabstract%3Frss%3Dyes Abstract: TERC gene amplification was investigated as a possible diagnostic marker for use in routine cytological screening to improve the accuracy of conventional screening procedures in detection of cervical preneoplastic lesions. Cervical smears were screened and classified as low-grade or high-grade squamous intraepithelial lesions (LSIL or HSIL). A fluorescence in situ hybridization procedure using a TERC-specific DNA probe was performed on the same specimens and TERC gene copy number was evaluated. More than two signals per cell were defined as TERC positive. In cervical smears graded after conization as cervical intraepithelial neoplasia grade 1 (CIN 1), no TERC-positive cases were found in either LSIL or HSIL, and no TERC amplification was found in LSIL cases with histological resu... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904199 Mon, 19 Oct 2009 14:41:08 +0100 2904199 http://www.medworm.com/index.php?rid=2904198&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003306%2Fabstract%3Frss%3Dyes We describe here a case of embryonal RMS in a 19-year-old female patient. The conventional cytogenetic analysis showed a t(4;22)(q35;q12) translocation as the sole cytogenetic change. Complementary fluorescence in situ hybridization analysis showed that the translocation breakpoints were located in the EWSR1 gene at 22q12 and the region of the DUX4 and FSHMD1A at 4q35. This constitutes a novel example of the high frequency of EWSR1 rearrangements in various types of sarcomas as well as of its ability to fuse with a large variety of partner genes. Because DUX4 is involved in myogenic differentiation and cell-cycle control, the striated muscle differentiation observed in the present case might be a direct consequence of the alteration of the DUX4 region generated by the t(4;22). The involvem... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904198 Mon, 19 Oct 2009 14:41:08 +0100 2904198 http://www.medworm.com/index.php?rid=2904197&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003288%2Fabstract%3Frss%3Dyes Abstract: Pediatric undifferentiated soft tissue sarcomas (USTS) are a diagnostically challenging group of neoplasms. Recently, a subcategory of USTS with primitive round cell morphology and a t(4;19)(q35;q13) rearrangement has been defined. The present study applied high-throughput array comparative genomic hybridization together with spectral karyotyping, four-color fluorescence in situ hybridization (FISH), and reverse transcriptase–polymerase chain reaction (RT-PCR) to a series of three pediatric USTS. Two of these had primitive round cell morphology with CD99 positivity; the third had a spindled and myxoid appearance. By genomic analyses, both primitive round cell sarcomas had t(4;19)(q13;q35) rearrangements in addition to several imbalances throughout the genome. Four-color FISH an... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904197 Mon, 19 Oct 2009 14:41:08 +0100 2904197 http://www.medworm.com/index.php?rid=2904196&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809005329%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2904196 Mon, 19 Oct 2009 14:41:08 +0100 2904196 http://www.medworm.com/index.php?rid=2827203&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004932%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827203 Thu, 24 Sep 2009 17:36:30 +0100 2827203 http://www.medworm.com/index.php?rid=2827202&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900329X%2Fabstract%3Frss%3Dyes Vestibular schwannomas are benign tumors of the vestibular nerves accounting for 10% of intracranial tumors. Hearing loss, tinnitus, and disequilibrium are the most frequently encountered symptoms, but large tumors may lead to brain compression and severe complications. It is known that inactivation of merlin, the product of the NF2 tumor suppressor gene, is responsible for development of vestibular schwannoma, both in sporadic and in bilateral, syndromic, and familial cases. In a recent meta-analysis of constitutional and somatic NF2 alterations, Ahronowitz et al. identified 1,070 small genetic changes detected primarily by exon scanning, 42 intragenic changes of one whole exon or larger, and 29 gross chromosomal rearrangements and whole-gene deletions. Genomic regions other than chromos... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827202 Thu, 24 Sep 2009 17:36:30 +0100 2827202 http://www.medworm.com/index.php?rid=2827201&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003239%2Fabstract%3Frss%3Dyes Abstract: Myelodysplastic syndromes (MDS) are a group of heterogeneous clonal stem cell diseases with a tendency to progress to leukemic transformation. The cytogenetic and molecular pathogenesis of MDS has not been well understood. SALL4, a newly identified oncogene, modulates stem cell pluripotency and self-renewal capability in embryonic development and also plays a role in leukemogenesis. Overexpression of SALL4 induces MDS-like features and subsequent leukemic progression in transgenic mice. Here, we examined SALL4 expression levels in bone marrow mononuclear cells from MDS patients, acute myeloid leukemia (AML) patients, and normal control subjects using a semiquantitative reverse transcription polymerase chain reaction. Higher levels of SALL4 expression were seen in MDS and AML samp... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827201 Thu, 24 Sep 2009 17:36:30 +0100 2827201 http://www.medworm.com/index.php?rid=2827200&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003276%2Fabstract%3Frss%3Dyes Abstract: Reciprocal t(16;21)(p11;q22) is a rare chromosomal abnormality in acute myeloid leukemia (AML). The chimeric transcript FUS–ERG formed by this translocation which causes the replacement of RNA-binding domain of FUS (alias TLS) with the DNA-binding domain of ERG, and this event is thought to be responsible for leukemogenesis. Here we report two cases of AML with t(16;21)(p11.2;q22) showing unusual characteristics, and address the clinical, hematological, and molecular aspects of leukemia with t(16;21), along with a review of the literature. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827200 Thu, 24 Sep 2009 17:36:30 +0100 2827200 http://www.medworm.com/index.php?rid=2827199&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003252%2Fabstract%3Frss%3Dyes Abstract: Cancers have clonal, aneuploid karyotypes that evolve ever more malignant phenotypes spontaneously. Because these facts are hard to explain by conventional mutation theory, we propose here a karyotypic cancer theory. According to this theory, carcinogens initiate carcinogenesis by inducing random aneuploidy. Aneuploidy then catalyzes karyotypic evolutions, because it destabilizes the karyotype by unbalancing teams of proteins that segregate, synthesize, and repair chromosomes. Sporadically, such evolutions generate new cancer-causing karyotypes, which are stabilized within narrow limits against the inherent instability of aneuploidy by selection for oncogenic function. Here we have tested this theory prospectively by analyzing the karyotypes of distinct tumorigenic clones, which ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827199 Thu, 24 Sep 2009 17:36:30 +0100 2827199 http://www.medworm.com/index.php?rid=2827198&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002945%2Fabstract%3Frss%3Dyes Abstract: Wilms tumor is one of the most common solid tumors in children. We evaluated expression and amplification of a number of genes and their prognostic significance in 45 patients with Wilms tumor, using tissue microarray technology. The expression of EGFR, ERBB2, MDM2, CCND1, MLH1, MSH2, TP53, and ABCB1 (alias MDR1) was studied by immunohistochemistry. Amplification of the EGFR, ERBB2, MDM2, CCND1, CTTN (previously EMS1), RAF1, MYC, FGF3 (previously INT2), WNT1, GLI1, CDK4, and NCOA3 (alias AIB1) genes was assessed by fluorescence in situ hybridization. Expression of EGFR was seen in 17 of the 45 cases (38%) but was not associated with gene amplification. The ERBB2 gene was neither overexpressed nor amplified in any case. Tissue microarray and immunohistochemistry analyses for ERBB2... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827198 Thu, 24 Sep 2009 17:36:30 +0100 2827198 http://www.medworm.com/index.php?rid=2827197&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002921%2Fabstract%3Frss%3Dyes Abstract: Hepatoblastoma is the most common primary hepatic tumor in children, and only a limited number of detailed karyotypic analyses have been reported to date. In the present study, cytogenetic abnormalities were identified in nine cases of hepatoblastoma from a single institution. Among characteristic chromosomal changes detected were simple numerical aberrations, structural alterations of chromosomes 1, 2, and 8, and the recurrent unbalanced rearrangements der(4)t(1;4)(q25.2;q35.1) and der(6)t(1;6)(q21;q26). Array comparative genomic hybridization was applied in four of the cases. The combined cytogenetic, molecular cytogenetic, and histopathologic analyses are presented here, together with clinical data. The results substantially confirm previous findings of aberrations involving c... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827197 Thu, 24 Sep 2009 17:36:29 +0100 2827197 http://www.medworm.com/index.php?rid=2827196&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002775%2Fabstract%3Frss%3Dyes In this study, cultured SFT cells from a lower lip lesion that presented characteristic immunopositivity for CD34, vimentin, CD99, and BCL2 showed a unique cytogenetic finding: 46,XX,inv(2)(p21q35),t(3;12)(q25;q15). To our knowledge, this is the third report of cytogenetic result of a case involving the oral cavity. The SFT cells in culture that maintained their immunohistochemical expression of diagnostic molecules, showed unique chromosomal changes previously unreported when compared with already documented ones. Our data suggest that the complicated pathogenetic nature of SFT is possibly tumor- or organ-related. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827196 Thu, 24 Sep 2009 17:36:29 +0100 2827196 http://www.medworm.com/index.php?rid=2827195&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002295%2Fabstract%3Frss%3Dyes Abstract: Acute myeloid leukemia (AML) cases with monosomy 7 (−7) and del(7q) comprise a heterogeneous subgroup. The association of losses in 7q with myeloid leukemia suggests that this region contains a tumor suppressor gene or genes whose loss of function contributes to leukemic transformation or tumor progression. The −7/del(7q) aberrations frequently coexist with complex karyotypes such as −5/del(5q) and trisomy 8. In the present case, we identified a rare abnormality involving deletion of both arms of chromosome 7 presenting with a marker chromosome-like appearance in an AML patient. Bone marrow aspiration and biopsy revealed acute myelomonocytic leukemia. Immunophenotyping study showed CD13, CD14, CD33, CD117, and myeloperoxidase positivities. Analysis of 20 metaphases indicate... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827195 Thu, 24 Sep 2009 17:36:29 +0100 2827195 http://www.medworm.com/index.php?rid=2827194&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004920%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2827194 Thu, 24 Sep 2009 17:36:29 +0100 2827194 http://www.medworm.com/index.php?rid=2771801&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004373%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771801 Mon, 07 Sep 2009 17:31:18 +0100 2771801 http://www.medworm.com/index.php?rid=2771800&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002751%2Fabstract%3Frss%3Dyes The development of clonal chromosome abnormalities in Philadelphia chromosome–negative (Ph−) cells is well documented in chronic myeloid leukemia (CML) responding to interferon-α and imatinib . More recently, this phenomenon was observed after administration of two second-generation tyrosine kinase inhibitors, nilotinib and dasatinib . (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771800 Mon, 07 Sep 2009 17:31:18 +0100 2771800 http://www.medworm.com/index.php?rid=2771799&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900243X%2Fabstract%3Frss%3Dyes In primary myelofibrosis, cytogenetic abnormalities occur in up to 30% of patients and have been considered to predict shorter survival . The most frequent chromosome abnormalities are partial trisomy 1q, del(13q), del(20q), +8; balanced translocations are relatively rare . Here we report a case of primary myelofibrosis with a novel cytogenetic abnormality, t(1;19) along with der(1)t(1;19). (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771799 Mon, 07 Sep 2009 17:31:18 +0100 2771799 http://www.medworm.com/index.php?rid=2771798&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003227%2Fabstract%3Frss%3Dyes Abstract: Nasopharyngeal carcinoma (NPC) is a unique type of head and neck cancer that is most prevalent in southern China. Previous studies have suggested that genetic susceptibility, environmental carcinogens, and Epstein–Barr virus (EBV) infection contribute to the etiology of NPC. Our group has identified the retinoic acid receptor responder (tazarotene induced) 1 gene (RARRES1; alias TIG1) to be transcriptionally silenced by promoter hypermethylation in ∼90% of NPC cases, suggesting that its inactivation may be important in NPC formation. The aim of this study was to explore the functional role of the RARRES1 protein (alias TIG1) in NPC cells with EBV infection (HK1-EBV) and without (HK1). Cellular proliferation analysis, as measured by 5-bromo-2′-deoxyuridine (BrdU) incorporati... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771798 Mon, 07 Sep 2009 17:31:18 +0100 2771798 http://www.medworm.com/index.php?rid=2771797&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002933%2Fabstract%3Frss%3Dyes We report here a case of small round blue cell tumor detected in the kidney of a 3-year-old girl. The use of FISH in combination with RT-PCR led to identification of a novel FUS–ERG fusion transcript in the tumor, with FUS exons 1–5 fused in-frame to ERG exons 6–9. The results from the molecular analyses were critical for reaching a final diagnostic conclusion of Ewing tumor–peripheral neuroectodermal tumor and hence had important therapeutic implications for the patient. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771797 Mon, 07 Sep 2009 17:31:18 +0100 2771797 http://www.medworm.com/index.php?rid=2771796&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS016546080900291X%2Fabstract%3Frss%3Dyes Abstract: Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease. Certain chromosomal translocations are associated with clinical outcome, but it is likely that there are both tumor suppressor genes and oncogenes that cooperate with the primary translocations. We have used the Mitelman database to compare chromosomal losses and gains of DLBCL possessing t(14;18), t(8;14), or t(3;14) with DLBCL lacking any of these translocations. The data we obtained are low resolution, but results for t(3;14) validate the methodology. In accord with the literature, loss of 6q was associated with t(3;14). Chromosomes 11, 13, and X were gained significantly in t(3;14), whereas 8p23 was lost. Cases with t(14;18) were associated with gains of chromosomes 7 and 12; cases with t(8;14) were associated ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771796 Mon, 07 Sep 2009 17:31:17 +0100 2771796 http://www.medworm.com/index.php?rid=2771795&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002799%2Fabstract%3Frss%3Dyes Abstract: Polysomy 8 is a rare abnormality, one that has been reported as associated with secondary evolution, monocytic differentiation, or poor prognosis in myeloid neoplasm. In contrast to tetrasomy 8, which is most commonly observed, pentasomy 8 is a minority component of polysomy 8. To date, only three cases of pentasomy 8 accompanied with 11q23 rearrangement have been reported. Reported here is a novel case of pentasomy 8 with partial tandem duplication of 11q23 in de novo acute myeloid leukemia. The findings contribute to understanding of the relation between the two abnormalities, which have their own individual leukemogenic potencies. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771795 Mon, 07 Sep 2009 17:31:17 +0100 2771795 http://www.medworm.com/index.php?rid=2771794&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002386%2Fabstract%3Frss%3Dyes We describe here a novel case of acute myeloid leukemia (AML) with double idic(21)(p11.2). A 35-year-old man was diagnosed as having de novo AML with multilineage dysplasia because of 30% myeloperoxidase-positive blasts and trilineage dysplasia in the bone marrow. Surface marker analysis revealed that the blasts were positive for CD7, CD13, CD33, CD34, and HLA-DR. Chromosome analysis and spectral karyotyping showed 47,XY,+21,idic(21)(p11.2)×2, leading to pentasomy 21q. Fluorescence in situ hybridization demonstrated two RUNX1 signals on the idic(21)(p11.2), resulting in a total of five RUNX1 signals in metaphase spreads and interphase nuclei. These results suggest that the idic(21)(p11.2) could be implicated also in the pathogenesis of AML through amplification of genes including RUNX1 lo... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771794 Mon, 07 Sep 2009 17:31:17 +0100 2771794 http://www.medworm.com/index.php?rid=2771793&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002908%2Fabstract%3Frss%3Dyes Abstract: The mechanisms for the formation of variant Philadelphia (Ph) translocations that occur in 5–10% of patients with chronic myeloid leukemia (CML) are not fully characterized. Studies on the prognosis of these variant translocations have yielded conflicting results, especially regarding imatinib outcome and the status of deletions on the derivative chromosome 9. To shed light on these controversial subjects, we sought to analyze all variant translocation cases presented at diagnosis and identified in our institution between the years 2001 and 2008. Of 336 CML patients who presented at diagnosis and were studied by conventional cytogenetics and fluorescence in situ hybridization (FISH), 25 patients (7.44%) exhibited variant Ph-rearrangements. All chromosomes could be implicated in... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771793 Mon, 07 Sep 2009 17:31:17 +0100 2771793 http://www.medworm.com/index.php?rid=2771792&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002891%2Fabstract%3Frss%3Dyes In this study, we obtained the gene expression profile of early esophageal squamous cell carcinoma (ESCC) and further screened molecular markers that might be useful in early diagnosis and treatment. RNA extracted from EC cancer tissues and matched normal esophageal epithelium of four EC patients were analyzed using whole-genome microarrays. Welch's t-test was applied to normalized data to identify genes expressed differently between cancer and normal tissues. Significantly differentially expressed genes were classified according to gene ontology. Gene mapping software was used to identify pathways involving the genes that were significantly changed. Among the 54,613 gene transcripts and variants analyzed, 367 were differentially expressed between early ESCC and normal esophageal epitheliu... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771792 Mon, 07 Sep 2009 17:31:17 +0100 2771792 http://www.medworm.com/index.php?rid=2771791&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002787%2Fabstract%3Frss%3Dyes Abstract: The diagnosis and classification of diffusely infiltrative gliomas are based on their histopathological appearance; however, histopathological delineation of diffuse gliomas can be difficult because of vague and subjective histopathological criteria. Combined loss of chromosome arms 1p and 19q (denoted as 1p−/19q−) has proven to be a powerful predictor of chemotherapeutic response and survival in oligodendrogliomas. We undertook retrospective and prospective studies of brain tumor patients originally diagnosed as oligodendrogliomas or oligoastrocytomas patients followed at our institution using molecular genetic techniques. Fluorescence in situ hybridization using probes specific for chromosomes 1 and 19 was performed on 22 paraffin-embedded tissues retrospectively; 15 touch-... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771791 Mon, 07 Sep 2009 17:31:17 +0100 2771791 http://www.medworm.com/index.php?rid=2771790&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002763%2Fabstract%3Frss%3Dyes Abstract: Lung cancer sublines No15-80-1 and No15-80-6 were selected by treatment of cell line NCI-H460 with paclitaxel at stepwise increasing concentrations from 50 nmol/L to 800 nmol/L. The two sublines exhibited amplifications of the ABCB1 region (previously MDR1) with different copy number profiles, but shared a common amplification pattern, which has been observed in amplification mediated by the breakage-fusion-bridge (BFB) cycle. Sequence analysis of the distal ends of the amplified regions, which were probably generated in a break-and-fusion of the initial round of the BFB cycle, revealed a head-to-head fused sequence of chromosome 7. The sequence was identical in the two sublines. A short sequence of 200bp derived from chromosome 2 was incorporated, suggesting translocation betwee... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771790 Mon, 07 Sep 2009 17:31:17 +0100 2771790 http://www.medworm.com/index.php?rid=2771789&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002271%2Fabstract%3Frss%3Dyes We report a case of primary bone angiosarcoma, arising in the tibia of a 79-year-old woman, with a unique clonal chromosomal rearrangement: t(1;14)(p21;q24), that has not been reported in either soft tissue or primary bone angiosarcoma. The biologic significance of this translocation is not clear; however, the 1p21 locus is in the region of colony stimulating factor (CSF-1), which may play a role in tumorigenesis, as has been described in pigmented villonodular synovitis and tenosynovial giant cell tumor. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771789 Mon, 07 Sep 2009 17:31:17 +0100 2771789 http://www.medworm.com/index.php?rid=2771788&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809004361%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2771788 Mon, 07 Sep 2009 17:31:17 +0100 2771788 http://www.medworm.com/index.php?rid=2680974&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003914%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680974 Sat, 08 Aug 2009 11:53:09 +0100 2680974 http://www.medworm.com/index.php?rid=2680973&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002477%2Fabstract%3Frss%3Dyes Abstract: Hyperdiploidy is rarely observed in childhood acute myeloid leukemia (AML). Described here is the case of a 2½-year-old girl with AML-M5 and 51 chromosomes characterized by double tetrasomy of chromosomes 8 and 21 and also a neocentric derivative chromosome neo(1)(qter→q23∼24::q23∼24→q43→neo→q43→qter). Little is known about the prognostic significance of these chromosomal abnormalities in childhood AML. In the actual case, complete remission was achieved after chemotherapy, which continued for 7 months. No acquired neocentric chromosome 1 has been described previously, even though neocentromere formation has been reported for other chromosomes in neoplasms. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680973 Sat, 08 Aug 2009 11:53:09 +0100 2680973 http://www.medworm.com/index.php?rid=2680972&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002441%2Fabstract%3Frss%3Dyes Abstract: We previously reported a recurrent t(3;8)(q26;q24) translocation involving EVI1 in five patients with myelodysplastic syndrome or acute myeloid leukemia. Here we report the same structural abnormality in a case of chronic myeloid leukemia in blast phase. The t(3;8)(q26;q24) occurred several months after the initial diagnosis of chronic myeloid leukemia, while the patient was being treated with a tyrosine kinase inhibitor. We confirmed rearrangement of EVI1 by fluorescence in situ hybridization assay using a dual-color break-apart probe set that spans the EVI1 region. Our findings demonstrate that, similar to other recurrent translocations involving 3q26, such as t(3;3) and t(3;21), the t(3;8)(q26;q24) is implicated not only in myelodysplastic syndrome and acute myeloid leukemia, ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680972 Sat, 08 Aug 2009 11:53:09 +0100 2680972 http://www.medworm.com/index.php?rid=2680971&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002416%2Fabstract%3Frss%3Dyes Abstract: Intraosseous schwannoma is rare, and most commonly occurs in the mandible. Benign classic schwannomas commonly carry normal karyotypes admixed with aberrant near-diploid karyotypes with a few simple clonal chromosome changes, mainly numerical. No consistent chromosomal aberrations have been observed so far. It is unclear whether the chromosomal abnormalities are affected by the anatomic site of the tumor; however, we know of no cytogenetic reports on schwannoma in the oral area. This novel report of cytogenetic analysis of intraosseous schwannoma represents the fifth report on a new balanced translocation in schwannoma in general. We identified clonal t(2;13) in an intraosseous schwannoma of the mandible. The significance of t(2;13) in diagnosis or prognosis is not yet clear, and... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680971 Sat, 08 Aug 2009 11:53:08 +0100 2680971 http://www.medworm.com/index.php?rid=2680970&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002374%2Fabstract%3Frss%3Dyes We describe the clinical, morphologic, immunophenotypic, and cytogenetic findings in the case of a 39-year-old man with acute megakaryoblastic leukemia (AML-M7). Cytogenetic analysis revealed two translocations, t(8;17)(q23;q24.2) and t(9;22)(p24.1;q12.2), at presentation; to our knowledge, this combination is a novel finding for acute megakaryoblastic leukemia. The patient responded to induction therapy, achieving complete remission after 9 days of therapy. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680970 Sat, 08 Aug 2009 11:53:08 +0100 2680970 http://www.medworm.com/index.php?rid=2680969&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002350%2Fabstract%3Frss%3Dyes We report a case of adult acute myeloid leukemia with a new t(11;12)(p15;q13) underlying a NUP98 rearrangement without HOXC cluster gene involvement. We designed a specific double-color double-fusion FISH assay to discriminate between this t(11;12)(p15;q13) and those producing NUP98-HOXC11 or NUP98-HOXC13. Our fluorescence in situ hybridization (FISH) showed that putative candidate partners mapping 600 kilobases centromeric to HOXC were RARG (retinoic acid receptor γ), MFSD5 (major facilitator superfamily domain containing 5), and ESPL1 (extra spindle pole bodies homolog 1). It is noteworthy that so far only ESPL1 has been implicated in human cancers. This FISH assay is useful for diagnostic screening of NUP98-positive leukemias. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680969 Sat, 08 Aug 2009 11:53:08 +0100 2680969 http://www.medworm.com/index.php?rid=2680968&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809001939%2Fabstract%3Frss%3Dyes In this study, genetic alterations occurring in extragonadal choriocarcinoma in two Japanese male patients were examined. Loss of heterozygosity (LOH) analysis using a polymorphic marker of the PTEN gene, IVS4+109ins/delTCTTA, revealed a hemizygous deletion of PTEN not only in the primary gastric choriocarcinoma, but also in the gastric adenocarcinoma. Microsatellite marker D12S1051 likewise showed LOH in both the primary gastric choriocarcinoma and the gastric adenocarcinoma. Mutational analysis of the TP53 gene revealed a point mutation in exon 5 (A536G), which resulted in H179R in the gastric choriocarcinoma but not in the gastric adenocarcinoma. No LOH was found for PTEN in an extragonadal retroperitoneal choriocarcinoma. Microsatellite marker D9S162 showed LOH in the extragonadal retr... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680968 Sat, 08 Aug 2009 11:53:08 +0100 2680968 http://www.medworm.com/index.php?rid=2680967&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809001435%2Fabstract%3Frss%3Dyes We report a case of de novo AML M4 subtype, with a t(11;12)(p15;q13) translocation, generating a NUP98–HOXC13 chimeric transcript. Molecular analysis showed that the exon 16 of NUP98 was fused in frame with exon 2 of HOXC13. The patient was also positive for FLT3 internal tandem duplication (ITD), another molecular marker for the disease. Comparative study of data on the fusion of HOXC cluster and NUP98 gene revealed that it is a rare event, found exclusively in AML patients. To our knowledge, this is the first case of t(11;12)(p15;q13) in de novo AML-M4 in association with FLT3 ITD mutation. Coexistence of NUP98–HOXC13 fusion and FLT3 ITD mutation is likely relevant in the process of leukemogenesis. (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680967 Sat, 08 Aug 2009 11:53:08 +0100 2680967 http://www.medworm.com/index.php?rid=2680966&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002428%2Fabstract%3Frss%3Dyes Abstract: Pleomorphic xanthoastrocytoma (PXA) is a tumor of astrocytic lineage that may have anaplastic features; such a phenotype usually correlates with a less favorable outcome. The molecular profile of PXA differs from other astrocytic tumors, but the molecular mechanisms of its formation and progression are still undefined. We analyzed a loss of heterozygosity and mutations of the SMARCB1 (also known as SNF5 or INI1) and TP53 genes in four cases of PXA. In just one case a TP53 mutation (Cys238Tyr) was readily detectable at the mRNA level, but it was almost undetectable during DNA sequencing. This case was also the only one exhibiting anaplastic features and TP53 overexpression as defined by immunohistochemistry. This observation supports our earlier findings on discrepancies in TP53 s... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680966 Sat, 08 Aug 2009 11:53:08 +0100 2680966 http://www.medworm.com/index.php?rid=2680965&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002404%2Fabstract%3Frss%3Dyes Abstract: Acute lymphoblastic leukemia (ALL) in infants is characterized by a high frequency of MLL gene rearrangements. By contrast, the t(12;21) ETV6–RUNX1 fusion gene is typically detected in children older than 2 years. In a series of Brazilian infant leukemia cases, however, four younger cases harbored ETV6–RUNX1, at ages 2, 3, 5, and 7 months. This finding could represent a unique model for delineating the additional genomic hits required to accelerate the emergence of a frank leukemia in these t(12;21)-positive cases. We applied a whole-genome copy number analysis with single-nucleotide polymorphism (SNP) arrays, comparing t(12;21) infants with older pediatric age groups. Recurrent deletions, including 9p21.3 (CDKN2A, CKDN2B, and MTAP), 11p13 (CD44), 12p13.2 (ETV6), and patient-... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680965 Sat, 08 Aug 2009 11:53:08 +0100 2680965 http://www.medworm.com/index.php?rid=2680964&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002337%2Fabstract%3Frss%3Dyes Abstract: The der(1;7)(q10;p10) aberration is observed in about 1–3% of the myelodysplastic syndromes (MDS) and less commonly in acute myeloid leukemia (AML) and the myeloproliferative disorders. This unbalanced translocation is considered a “variant” of the del(7q)/–7 subgroup and has been assigned a poor risk karyotype score in the MDS International Prognostic Scoring System (IPSS). Recent reports suggest der(1;7) MDS should be considered a discrete MDS subgroup with an intermediate, not poor, karyotype score. At the City of Hope, we compared the clinical–pathologic features of 12 der(1;7) MDS patients to 51 MDS patients with del(7q) (n=10) or –7 (n=41), selected for a similar frequency of secondary aberrations. The der(1;7) patients showed older age at diagnosis, lower plate... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680964 Sat, 08 Aug 2009 11:53:08 +0100 2680964 http://www.medworm.com/index.php?rid=2680963&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002313%2Fabstract%3Frss%3Dyes Abstract: Germline mutations or the malfunctioning of postreplicative mismatch repair genes (MMR) are responsible of hereditary nonpolyposis colorectal cancer (HNPCC), and are also implied in some sporadic colorectal cancer (CRC) forms without any familial history of this disease. Besides germinal mutations and methylation, single-nucleotide polymorphisms (SNP) can predispose to nonfamilial CRC with low to moderate penetrance. In this case–control study, we analyzed three MLH1 single-nucleotide polymorphisms (exon 5: 415G→C, rs28930073; exon 8: 655A→G, rs1799977 and exon 16: 1852-1853AA→GC) in 140 sporadic colorectal cancer cases and 125 healthy individuals to evaluate the relationship among CRC risk and clinicopathologic and genetic characteristics of the tumors. In our study, no ... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680963 Sat, 08 Aug 2009 11:53:07 +0100 2680963 http://www.medworm.com/index.php?rid=2680962&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003902%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2680962 Sat, 08 Aug 2009 11:53:07 +0100 2680962 http://www.medworm.com/index.php?rid=2600483&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809003495%2Fabstract%3Frss%3Dyes (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2600483 Wed, 15 Jul 2009 11:47:31 +0100 2600483 http://www.medworm.com/index.php?rid=2600482&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809001502%2Fabstract%3Frss%3Dyes The t(8;21) translocation occurs in 5–12% of acute myeloid leukemia (AML) cases, often occurring in the younger population. This translocation fuses the RUNX1 gene (previously AML1) on chromosome band 21q22 to the RUNX1T1 (previously known as ETO) on 8q22, resulting in a RUNX1/RUNX1T1 hybrid transcript on the derivative chromosome 8 . According to the World Health Organization, this type of AML is associated with a favorable prognosis . Variant translocations account for approximately 3–4% of all AML-M2 with RUNX1/RUNX1T1 fusion transcripts , and the clinical consequences of such variants are less clearly defined. Here, we present a case of AML-M2 with a cryptic three-way translocation, t(1;21;8)(p36;q22;q22). (Source: Cancer Genetics and Cytogenetics) Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2600482 Wed, 15 Jul 2009 11:47:31 +0100 2600482 http://www.medworm.com/index.php?rid=2600481&cid=s_34583_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FPIIS0165460809002349%2Fabstract%3Frss%3Dyes Abstract: Germline TP53 mutations are found in only 70% of families with the Li-Fraumeni syndrome (LFS), and with an even lower frequency in families suggestive of LFS but not meeting clinical criteria of the syndrome. Despite intense efforts, to date, no other genes have been associated with the disorder in a significant number of TP53 mutation-negative families. A search for defects in TP53 other than heterozygous missense mutations showed that neither intron variants nor sequence variants in the TP53 promoter are frequent in LFS, and multiexon deletions have been found to be responsible for LFS only in several cases. Another cancer predisposition syndrome, hereditary non-polyposis colon cancer, has been associated with epigenetic silencing of one allele of the MLH1 or MSH2 genes. This p... Cancer Genetics and Cytogenetics journals http://www.medworm.com/rss/comments.php?id=2600481 Wed, 15 Jul 2009 11:47:31 +0100 2600481