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Table of ContentsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Tags: Frontmatter Source Type: journals

CASP8AP2 is a novel partner gene of MLL rearrangement with t(6;11)(q15;q23) in acute myeloid leukemiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Tae Sung Park, Sang-Guk Lee, Jaewoo Song, Kyung-A Lee, Juwon Kim, Jong Rak Choi, Seung Tae Lee, Rolf Marschalek, Claus Meyer Tags: Letters to the editor Source Type: journals

FGFR3 amplification in the absence of IGH@–FGFR3 fusion t(4;14) in myelomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 frequ...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Fabiola Quintero-Rivera, Riem El-Sabbagh Badr, P. Nagesh Rao Tags: Letters to the editor Source Type: journals

Establishment and conventional cytogenetic characterization of three gastric cancer cell linesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 divisio...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Mariana Ferreira Leal, José Luiz Martins do Nascimento, Carla Elvira Araújo da Silva, Maria Fernanda Vita Lamarão, Danielle Queiroz Calcagno, André Salim Khayat, Paulo Pimentel Assumpção, Isabel Rosa Cabral, Marília de Arruda Cardoso Smith, Rommel Tags: Short communications Source Type: journals

Cytogenetic study of a pulmonary sclerosing hemangiomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: María J. Pareja, María T. Vargas, Ana Sánchez, José Ibáñez, Ricardo González-Cámpora Tags: Short communications Source Type: journals

Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast–ovarian cancer syndromes: a case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 - October 19, 2009 Category: Genetics & Stem Cells Authors: Laura Papi, Domenico Palli, Laura Masi, Anna Laura Putignano, Caterina Congregati, Ines Zanna, Francesca Marini, Francesca Giusti, Ettore Luzi, Francesco Tonelli, Maurizio Genuardi, Maria Luisa Brandi, Alberto Falchetti Tags: Short communications Source Type: journals

Cytogenetic, fluorescence in situ hybridization, and molecular characterization of chronic myeloid leukemia in chronic phase with four BCR/ABL1 fusion signals: a case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 fluoresc...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Maria Teresa Vargas, Maria Angeles Portero, Alicia Rodríguez, Juana Reyes, Carmen Fernández-Novoa Tags: Short communications Source Type: journals

HMGA2–NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumorEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 feat...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Anne Pierron, Carla Fernandez, Esma Saada, Frédérique Keslair, Géraldine Hery, Hélène Zattara, Florence Pedeutour Tags: Original articles Source Type: journals

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 studyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 o...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: 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 Tags: Original articles Source Type: journals

Novel SYT–SSX fusion transcript variants in synovial sarcomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Euthimios Dimitriadis, Demetra Rontogianni, Anastasios Kyriazoglou, Anna Takou, Kostantina Frangia, Nikolaos Pandis, Theoni Trangas Tags: Original articles Source Type: journals

Polymorphisms in one-carbon metabolism pathway genes and risk for bladder cancer in a Tunisian populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 (...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Kamel Rouissi, Slah Ouerhani, Elisabete Oliveira, Raja Marrakchi, Lotfi Cherni, Fethi Ben Othman, Mohamed R. Ben Slama, Mohamed Sfaxi, Mohsen Ayed, Mohamed Chebil, António Amorim, Maria João Prata, Amel Benammar Elgaaied Tags: Original articles Source Type: journals

Detection of chromosomal abnormalities associated with chronic lymphocytic leukemia: what is the best method?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ob...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Maha el-Taweel, Carole Barin, Florence Cymbalista, Virginie Eclache Tags: Original articles Source Type: journals

TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibilityEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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. TP...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Thuy N. Do, Esma Ucisik-Akkaya, Charronne F. Davis, Brittany A. Morrison, M. Tevfik Dorak Tags: Original articles Source Type: journals

Telomere aggregate formation in placenta specimens of pregnancies complicated with pre-eclampsiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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....
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Rivka Sukenik-Halevy, Moshe Fejgin, Devora Kidron, Lilach Goldberg-Bittman, Reuven Sharony, Tal Biron-Shental, Yona Kitay-Cohen, Aliza Amiel Tags: Original articles Source Type: journals

Telomere aggregates in trisomy 21 amniocytesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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: Ca...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Efrat Hadi, Reuven Sharony, Lilach Goldberg-Bittman, Tal Biron-Shental, Moshe Fejgin, Aliza Amiel Tags: Original articles Source Type: journals

Screening of TERC gene amplification as an additional genetic diagnostic test in detection of cervical preneoplastic lesionsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 int...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Nadja Kokalj-Vokač, Tatjana Kodrič, Alenka Erjavec-Škerget, Andreja Zagorac, Iztok Takač Tags: Original articles Source Type: journals

Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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, ...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Nicolas Sirvent, Martine Trassard, Nathalie Ebran, Rita Attias, Florence Pedeutour Tags: Original articles Source Type: journals

Detailed cytogenetic and array analysis of pediatric primitive sarcomas reveals a recurrent CIC–DUX4 fusion gene eventEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 appearanc...
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Authors: Maisa Yoshimoto, Cassandra Graham, Susan Chilton-MacNeill, Eric Lee, Mary Shago, Jeremy Squire, Maria Zielenska, Gino R. Somers Tags: Original articles Source Type: journals

Editorial BoardEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - October 19, 2009 Category: Genetics & Stem Cells Source Type: journals

Table of ContentsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Tags: Frontmatter Source Type: journals

cDNA microarray expression profile in vestibular schwannoma: correlation with clinical and radiological featuresEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: Luis Lassaletta, Victor Martínez-Glez, Miguel Torres-Martín, Juan A. Rey, Javier Gavilán Tags: Letter to the editor Source Type: journals

Overexpression of the novel oncogene SALL4 and activation of the Wnt/β-catenin pathway in myelodysplastic syndromesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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) patie...
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: Xiao Shuai, Daobin Zhou, Ti Shen, Yongji Wu, Jieping Zhang, Xuan Wang, Qian Li Tags: Short communication Source Type: journals

Detection of FUS–ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristicsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: Juwon Kim, Tae Sung Park, Jaewoo Song, Kyung-A. Lee, Duk Jin Hong, Yoo Hong Min, June-Won Cheong, Jong Rak Choi Tags: Original articles Source Type: journals

On the karyotypic origin and evolution of cancer cellsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 insta...
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: Joshua M. Nicholson, Peter Duesberg Tags: Original articles Source Type: journals

Amplification and expression of EGFR and ERBB2 in Wilms tumorEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: Mohammad Vasei, Helmout Modjtahedi, Oreineb Ale-booyeh, Ahmad Mosallaei, Abdol Mohammad Kajbafzadeh, Mehdi Shahriari, Abbas Ali Ghaderi, Hossein Soleymanpour, Farid Kosari, Holger Moch, Guido Sauter Tags: Original articles Source Type: journals

Cytogenetic and array comparative genomic hybridization analysis of a series of hepatoblastomasEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: Eva Stejskalová, Josef Malis̆, Jiří S̆najdauf, Karel Pýcha, Helena Urbánková, Viera Bajciová, Jan Starý, Roman Kodet, Marie Jarošová Tags: Original articles Source Type: journals

Oral solitary fibrous tumor: a cytogenetic analysis of tumor cells in culture with literature reviewEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: Wael M. Swelam, Jun Cheng, Hiroko Ida-Yonemochi, Satoshi Maruyama, Takashi Saku Tags: Original articles Source Type: journals

Deletions of chromosome arms 7p and 7q in adult acute myeloid leukemia: a marker chromosome confirmed by array comparative genomic hybridizationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 b...
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: Kwang-Sook Woo, Kyung-Eun Kim, Kyeong-Hee Kim, Sung-Hyun Kim, Joo-In Park, Lisa G. Shaffer, Jin-Yeong Han Tags: Original articles Source Type: journals

Editorial BoardEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - September 24, 2009 Category: Genetics & Stem Cells Source Type: journals

Table of ContentsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Tags: Frontmatter Source Type: journals

Trisomy 8 in PDGFRB-negative cells in a patient with imatinib-sensitive chronic myelomonocytic leukemia and t(5;16)(q33;p13), PDGFRB–NDE1 fusionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Francesco Cavazzini, Antonella Bardi, Maria Ciccone, Gian Matteo Rigolin, Paolo Gorello, Roberta La Starza, Cristina Mecucci, Antonio Cuneo Tags: Letter to the editor Source Type: journals

A novel cytogenetic abnormality in primary myelofibrosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Sook Young Bae, Jang Su Kim, Kap No Lee, Chang Kyu Lee, Young Kee Kim, Soo-Young Yoon, Chae Seung Lim, Yun Jung Cho, Chul Won Choi, Woon Young Kim Tags: Letter to the editor Source Type: journals

Role of the RARRES1 gene in nasopharyngeal carcinomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 prot...
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Wai Kei Kwok, Jesse Chung Sean Pang, Kwok Wai Lo, Ho-Keung Ng Tags: Short communication Source Type: journals

Ewing sarcoma–peripheral neuroectodermal tumor of the kidney with a FUS–ERG fusion transcriptEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Thomas Berg, Ann-Hilde Kalsaas, Jochen Buechner, Lill-Tove Busund Tags: Short communication Source Type: journals

Specific patterns of chromosomal gains and losses associate with t(3;14), t(8;14), and t(14;18) in diffuse large B-cell lymphomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Avni Sheth, Valeria A.S. de Melo, Richard Szydlo, Donald H. Macdonald, Alistair G. Reid, Simon D. Wagner Tags: Short communication Source Type: journals

Chromosome 8 pentasomy with partial tandem duplication of 11q23 in a case of de novo acute myeloid leukemiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 le...
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: So Youn Shin, Sun Hoe Koo, Kye Chul Kwon, Jong Woo Park, Jeong Hoon Song, Young Hyun Ko, Deog Yeon Jo Tags: Short communication Source Type: journals

Duplication of isodicentric chromosome 21, idic(21)(p11.2), leading to pentasomy 21q in acute myeloid leukemia with multilineage dysplasiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 a...
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Manabu Shimoyama, Katsuya Yamamoto, Shinichiro Nishikawa, Kentaro Minagawa, Yoshio Katayama, Toshimitsu Matsui Tags: Short communication Source Type: journals

Molecular cytogenetic characterization of variant Philadelphia translocations in chronic myeloid leukemia: genesis and deletion of derivative chromosome 9Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 b...
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Ayda Bennour, Halima Sennana, Mohamed Adnène Laatiri, Moez Elloumi, Abderrahim Khelif, Ali Saad Tags: Original articles Source Type: journals

Expression profiles of early esophageal squamous cell carcinoma by cDNA microarrayEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Xu Zhang, Peng Lin, Zhi-Hua Zhu, Hao Long, Jing Wen, Hong Yang, Xing Zhang, Dao-Feng Wang, Jian-Hua Fu, Yan Fang, Tie-Hua Rong Tags: Original articles Source Type: journals

Is the 1p/19q deletion a diagnostic marker of oligodendrogliomas?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 gene...
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Macoura Gadji, David Fortin, Ana-Maria Tsanaclis, Régen Drouin Tags: Original articles Source Type: journals

Amplification of the ABCB1 region accompanied by a short sequence of 200bp from chromosome 2 in lung cancer cellsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 seque...
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Kunio Kitada, Tomoaki Yamasaki, Satoko Aikawa Tags: Original articles Source Type: journals

Cytogenetic analysis of a primary bone angiosarcomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: Jennifer B. Dunlap, R. Ellen Magenis, Craig Davis, Eleanor Himoe, Atiya Mansoor Tags: Original articles Source Type: journals

Editorial BoardEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - September 7, 2009 Category: Genetics & Stem Cells Source Type: journals

Table of ContentsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - August 8, 2009 Category: Genetics & Stem Cells Tags: Frontmatter Source Type: journals

A case of childhood acute myeloid leukemia AML (M5) with a neocentric chromosome neo(1)(qter→q23∼24::q23∼24→q43→neo→q43→qter) and tetrasomy of chromosomes 8 and 21Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 for...
Source: Cancer Genetics and Cytogenetics - August 8, 2009 Category: Genetics & Stem Cells Authors: Amanda Faria de Figueiredo, Hasmik Mkrtchyan, Thomas Liehr, Eliane Maria Soares Ventura, Terezinha de Jesus Marques-Salles, Neide Santos, Raul Corrêa Ribeiro, Eliana Abdelhay, Maria Luiza Macedo Silva Tags: Short communications Source Type: journals

Chronic myeloid leukemia in blast phase associated with t(3;8)(q26;q24)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 othe...
Source: Cancer Genetics and Cytogenetics - August 8, 2009 Category: Genetics & Stem Cells Authors: Pei Lin, Patrick A. Lennon, Cameron C. Yin, Lynne V. Abruzzo Tags: Short communications Source Type: journals

Translocation (2;13) and other chromosome abnormalities in intraosseous schwannoma of the mandibleEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 schw...
Source: Cancer Genetics and Cytogenetics - August 8, 2009 Category: Genetics & Stem Cells Authors: Esther Manor, Sarit Tetro, Monica Noyhous, Palina Kachko, Lipa Bodner Tags: Short communications Source Type: journals

Novel t(8;17)(q23;q24.2) and t(9;22)(p24.1;q12.2) in acute megakaryoblastic leukemia AML-M7 subtype in an adult patientEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Cancer Genetics and Cytogenetics - August 8, 2009 Category: Genetics & Stem Cells Authors: Firoz Ahmad, Rupa Dalvi, Bibhu Ranjan Das, Swarna Mandava Tags: Short communications Source Type: journals

A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvementEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 bee...
Source: Cancer Genetics and Cytogenetics - August 8, 2009 Category: Genetics & Stem Cells Authors: Roberta La Starza, Lucia Brandimarte, Valentina Pierini, Valeria Nofrini, Paolo Gorello, Barbara Crescenzi, Laura Berchicci, Caterina Matteucci, Silvia Romoli, Donatella Beacci, Roberto Rosati, Massimo F. Martelli, Cristina Mecucci Tags: Short communications Source Type: journals

Allelic loss of the PTEN gene and mutation of the TP53 gene in choriocarcinoma arising from gastric adenocarcinoma: analysis of loss of heterozygosity in two male patients with extragonadal choriocarcinomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: Cancer Genetics and Cytogenetics - August 8, 2009 Category: Genetics & Stem Cells Authors: Genshu Tate, Takao Suzuki, Hiroshi Nemoto, Koji Kishimoto, Kenji Hibi, Toshiyuki Mitsuya Tags: Short communications Source Type: journals