Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation?
| Autor: | Rene C.J. Verschueren, John A. M. Beentjes, Rob G.J. Mensink, Harry Hollema, Arend Karrenbeld, Rolf H. Sijmons, Jan H. Kleibeuker, Maran J.W. Berends, Annemieke Cats, Robert M.W. Hofstra |
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| Přispěvatelé: | Guided Treatment in Optimal Selected Cancer Patients (GUTS), Targeted Gynaecologic Oncology (TARGON) |
| Rok vydání: | 2000 |
| Předmět: |
Adult
EXPRESSION Heterozygote adrenocortical adenocarcinoma congenital hereditary and neonatal diseases and abnormalities CARCINOMA MICROSATELLITE INSTABILITY Colorectal cancer Loss of Heterozygosity HNPCC Adenocarcinoma Biology MLH1 Polymerase Chain Reaction Pathology and Forensic Medicine Germline mutation Proto-Oncogene Proteins Ovarian carcinoma medicine Carcinoma Humans MSH2 protein expression neoplasms Germ-Line Mutation Ovarian Neoplasms RISK MUTATIONS nutritional and metabolic diseases Microsatellite instability Neoplasms Second Primary NONPOLYPOSIS COLORECTAL-CANCER DNA Neoplasm medicine.disease Immunohistochemistry TUMORS Adrenal Cortex Neoplasms digestive system diseases DNA-Binding Proteins MutS Homolog 2 Protein MSH2 MISMATCH-REPAIR GENES Cancer research Female Colorectal Neoplasms Microsatellite Repeats |
| Zdroj: | Human Pathology, 31(12), 1522-1527. W B SAUNDERS CO-ELSEVIER INC |
| ISSN: | 0046-8177 |
| DOI: | 10.1053/hupa.2000.20409 |
| Popis: | A woman is described who developed an ovarian adenocarcinoma, 3 metachronous colorectal adenocarcinomas, and a primary adrenocortical adenocarcinoma. Genetic investigation of the mismatch repair genes MLH1 and MSH2 showed a germline mutation in MSH2. Colorectal and ovarian carcinoma belong to the tumor spectrum of hereditary nonpolyposis colorectal cancer (HNPCC). Adrenocortical adenocarcinoma, however, has never been described as I of the HNPCC-associated tumors. To investigate whether the adrenocortical adenocarcinoma in this patient was caused by the MSH2 germline mutation, determination of microsatellite instability (MSI) and immunohistochemical analysis were performed on 1 of the colorectal tumors and the adrenocortical adenocarcinoma. MSI and general loss of MSH2 protein expression could be seen in the colorectal tumor but not in the adrenocortical adenocarcinoma. Therefore, it is highly unlikely that the adrenocortical adenocarcinoma found in this patient was due to her genetic predisposition for HNPCC. Copyright (C) 2000 by W.B. Saunders Company. |
| Databáze: | OpenAIRE |
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