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Total 244 results found since Jan 2013.

Perirenal perivascular epithelioid cell tumor (PEComa)
Acta Chir Belg. 2021 Feb 26:1-4. Online ahead of print.ABSTRACTA 52-year-old woman who is carrier of MLH-1 mutation (HNPCC-type Lynch syndrome) with a history of a colon adenocarcinoma was diagnosed with a 26 mm lobulated contrast-capturing mass located caudally of the pancreas tail, anteromedial of the spleen and medial of the splenic colon angle. She underwent an exploratory laparotomy with resection of the tumor. Initially this mass was presumed to be a metastasis in a patient with a history of a colon adenocarcinoma. However, after further histopathological and immunohistochemical examination, the mass appeared to be a...
Source: Acta Chirurgica Belgica - February 26, 2021 Category: Surgery Authors: Virginie Camps Vicky Maertens Maarten Michiels Herbert Plasschaert Robrecht Ceulemans Source Type: research

Invasive ACTH-Producing Pituitary Gland Neoplasm Secondary to MSH2 Mutation
Germline mutations in mismatch repair (MMR) genes MSH2, MLH1, MSH6, PMS2 and EPCAM are responsible for Lynch syndrome, a hereditary cancer-predisposition disorder also known as hereditary non-polyposis colorectal cancer (HNPCC). These genes have roles in repairing errors in DNA that can arise during replication.
Source: Cancer Genetics and Cytogenetics - April 4, 2021 Category: Genetics & Stem Cells Authors: PB Loughrey, G Baker, B Herron, S Cooke, D Iacovazzo, JR Lindsay, M Korbonits Source Type: research

Lynch syndrome-associated epithelial ovarian cancer and its immunological profile
CONCLUSION: MMR-d, MSI, and TILs are also seen in Lynch syndrome-associated ovarian cancers making these potential candidates for checkpoint-based immunotherapy. The clinical impact from immune evasion through loss of B2M needs to be investigated further in larger cohorts.PMID:34275654 | DOI:10.1016/j.ygyno.2021.07.001
Source: Gynecologic Oncology - July 19, 2021 Category: Cancer & Oncology Authors: Maria Rasmussen Kevin Lim Eva Rambech Mads Hald Andersen Inge Marie Svane Ove Andersen Lars Henrik Jensen Mef Nilbert Christina Therkildsen Source Type: research

Detection of Microsatellite Instability in Colorectal Cancer Patients With a Plasma-Based Real-Time PCR Analysis
In this study, we evaluated the results of a newly developed plasma-based real-time PCR kit for the detection of MSI in CRC patients. We assessed a peptide nucleotide acid (PNA) probe-mediated real-time PCR test (U-TOP MSI Detection Kit Plus) that determines MSI status by using amplicon melting analysis of five markers (NR21, NR24, NR27, BAT25, and BAT26) from plasma. Eighty-four CRC patients (46 dMMR and 38 pMMR) with colorectal cancer were analyzed. The concordance rate of MSI status assessment between the plasma kit and IHC was 63.0% in dMMR patients (29/46), but in the pMMR evaluation, a 100% (38/38) concordance rate w...
Source: Frontiers in Pharmacology - December 8, 2021 Category: Drugs & Pharmacology Source Type: research

359 Lynch syndrome and breast cancer: Our experience
We present three cases of breast cancer associated with LS.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - March 1, 2022 Category: OBGYN Authors: E. Papachatzopoulou, S. Marinopoulos, D. Maniatis, A. Giannos, A. Rodolakis, C. Dimitrakakis Source Type: research

A Pan-Cancer Analysis on the Systematic Correlation of MutS Homolog 2 (MSH2) to a Malignant Tumor
J Oncol. 2022 Mar 24;2022:9175402. doi: 10.1155/2022/9175402. eCollection 2022.ABSTRACTMutS homolog 2 (MSH2) is a crucial participant in human DNA repair, and lots of the studies functionally associated with it were begun with hereditary nonpolyposis colorectal cancer (HNPCC). MSH2 has also been reported to take part in the progresses of various tumors' formation. With the help of GTEx, CCLE, and TCGA pan-cancer databases, the analysis of MSH2 gene distribution in both tumor tissues and normal control tissues was carried out. Kaplan-Meyer survival plots and COX regression analysis were conducted for the assessment into the...
Source: Journal of Oncology - April 4, 2022 Category: Cancer & Oncology Authors: Hai Yao Zhidong Cao Haochuan Yong Xiaoxing Zhang Xin Zhang Wei Li Shenshen Zhi Wenyan Wu Source Type: research

Lynch syndrome: An unusal case of familial cancer unearthed
Indian J Pathol Microbiol. 2022 Apr-Jun;65(2):465-467. doi: 10.4103/IJPM.IJPM_809_19.ABSTRACTLynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is a type of inherited cancer syndrome with a genetic predisposition to different types of cancer. There is an increased predisposition to cancers in the endometrium, colon, stomach, ovary, uterus, skin, kidney, and brain in patients of Lynch syndrome. We are reporting a 48-year-old male who presented with a pea-sized growth in his left arm which was found to be sebaceoma on histopathology. On further detailed history, examination, and genetic study, it was proved ...
Source: Indian Journal of Pathology and Microbiology - April 18, 2022 Category: Pathology Authors: Subhra Dhar Ashraf U Mannan J Jaya Singh Sandipan Dhar Swetalina Pradhan Source Type: research