A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene

Autor:	M. Vernez, O. Gugerli, N. Halkic, P. Hutter, Hanifa Bouzourene, C. Monnerat
Rok vydání:	2006
Předmět:	Adenoma Adult Cancer Research Pathology medicine.medical_specialty Skin Neoplasms Proline Sebaceous Gland Neoplasm DNA Mutational Analysis Mutation Missense Cholangiocarcinoma Neoplasms Multiple Primary Germline mutation Polyps Muir–Torre syndrome Neoplastic Syndromes Hereditary Genetics medicine Serine Missense mutation Humans Sebaceous Gland Neoplasms Genetics (clinical) Intrahepatic Cholangiocarcinoma Germ-Line Mutation business.industry Brain Neoplasms Carcinoma Liver Neoplasms Syndrome medicine.disease Adenocarcinoma Mucinous Colorectal Neoplasms Hereditary Nonpolyposis Adenocarcinoma Mucinous/genetics Adenocarcinoma Mucinous/surgery Adenoma/genetics Adenoma/surgery Brain Neoplasms/genetics Brain Neoplasms/secondary Carcinoma/genetics Carcinoma/surgery Cholangiocarcinoma/genetics Cholangiocarcinoma/secondary Colorectal Neoplasms Hereditary Nonpolyposis/genetics Colorectal Neoplasms Hereditary Nonpolyposis/surgery DNA Probes DNA-Binding Proteins Endometrial Neoplasms/surgery Female Liver Neoplasms/genetics Liver Neoplasms/surgery Microsatellite Instability MutS Homolog 2 Protein/deficiency Neoplasms Multiple Primary/genetics Neoplasms Multiple Primary/surgery Neoplastic Syndromes Hereditary/genetics Neoplastic Syndromes Hereditary/surgery Polyps/surgery Proline/genetics Sebaceous Gland Neoplasms/genetics Sebaceous Gland Neoplasms/surgery Serine/genetics Skin Neoplasms/genetics Skin Neoplasms/secondary digestive system diseases Endometrial Neoplasms MutS Homolog 2 Protein Oncology MSH2 Cancer research Adenocarcinoma business
Zdroj:	Familial Cancer, vol. 6, no. 1, pp. 141-145
ISSN:	1389-9600
Popis:	Muir-Torre syndrome (MTS) is a rare cancer-predisposing syndrome that is autosomal dominantly inherited and characterized by the development of sebaceous skin lesions (adenomas, epitheliomas, basaliomas and carcinomas). These lesions are typically associated with tumors that belong to the spectrum of hereditary nonpolyposis colorectal cancer (HNPCC) (i.e., tumors of the colorectum, endometrium, stomach or ovary). Biliary malignancy in association with MTS has only rarely been reported. We report a case of Muir-Torre syndrome associated with intrahepatic cholangiocarcinoma, a location not previously described, and associated with a novel missense mutation of the MSH2 gene (c.2026T > C), predicted to disrupt the function of the gene.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5938883bf5826766a13f0d7e2e2601 https://pubmed.ncbi.nlm.nih.gov/17051350 Zobrazit plný text záznamu Full text from SpringerLink