Abstract:
: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.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Vernez M,Hutter P,Monnerat C,Halkic N,Gugerli O,Bouzourene Hdoi
10.1007/s10689-006-9105-9subject
Has Abstractpub_date
2007-01-01 00:00:00pages
141-5issue
1eissn
1389-9600issn
1573-7292journal_volume
6pub_type
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