Document Detail

A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene.
MedLine Citation:
PMID:  17051350     Owner:  NLM     Status:  MEDLINE    
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.
M Vernez; P Hutter; C Monnerat; N Halkic; O Gugerli; H Bouzourene
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Familial cancer     Volume:  6     ISSN:  1389-9600     ISO Abbreviation:  Fam. Cancer     Publication Date:  2007  
Date Detail:
Created Date:  2007-07-06     Completed Date:  2007-09-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100898211     Medline TA:  Fam Cancer     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  141-5     Citation Subset:  IM    
Department of Pathology, Institut Universitaire de Pathologie, Lausanne University Hospital, Bugnon 25, CH-1011 Lausanne, Switzerland.
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MeSH Terms
Adenocarcinoma, Mucinous / genetics,  surgery
Adenoma / genetics,  surgery
Brain Neoplasms / genetics,  secondary,  surgery
Carcinoma / genetics,  surgery
Cholangiocarcinoma / genetics*,  secondary*,  surgery
Colorectal Neoplasms, Hereditary Nonpolyposis / genetics,  surgery
DNA Mutational Analysis
DNA Probes
DNA-Binding Proteins
Endometrial Neoplasms / surgery
Germ-Line Mutation*
Liver Neoplasms / genetics*,  surgery
Microsatellite Instability
MutS Homolog 2 Protein / deficiency*
Mutation, Missense
Neoplasms, Multiple Primary / genetics*,  surgery
Neoplastic Syndromes, Hereditary / genetics*,  surgery
Polyps / surgery
Proline / genetics
Sebaceous Gland Neoplasms / genetics,  surgery
Serine / genetics
Skin Neoplasms / genetics*,  secondary,  surgery
Reg. No./Substance:
0/DNA Probes; 0/DNA-Binding Proteins; 147-85-3/Proline; 56-45-1/Serine; EC Homolog 2 Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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