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

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State: Public
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Serval ID
serval:BIB_BF0A35EBB792
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene.
Journal
Familial Cancer
Author(s)
Vernez M., Hutter P., Monnerat C., Halkic N., Gugerli O., Bouzourene H.
ISSN
1389-9600
Publication state
Published
Issued date
2007
Peer-reviewed
Oui
Volume
6
Number
1
Pages
141-145
Language
english
Notes
Publication types: Case Reports ; Journal Article
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.
Keywords
Adenocarcinoma, Mucinous/genetics, Adenocarcinoma, Mucinous/surgery, Adenoma/genetics, Adenoma/surgery, Adult, 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 Mutational Analysis, DNA Probes, DNA-Binding Proteins, Endometrial Neoplasms/surgery, Female, Germ-Line Mutation, Humans, Liver Neoplasms/genetics, Liver Neoplasms/surgery, Microsatellite Instability, MutS Homolog 2 Protein/deficiency, Mutation, Missense, 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, Syndrome
Pubmed
Web of science
Open Access
Yes
Create date
18/02/2008 14:30
Last modification date
01/10/2019 7:19
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