Familial Cancer

, Volume 6, Issue 1, pp 141–145

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

Authors

  • M. Vernez
    • Department of Pathology, Institut Universitaire de PathologieLausanne University Hospital
  • P. Hutter
    • Division of Medical GeneticsICHV
  • C. Monnerat
    • Department of GeneticsLausanne University Hospital
  • N. Halkic
    • Department of SurgeryLausanne University Hospital
  • O. Gugerli
    • Department of DermatologyLausanne University Hospital
    • Department of Pathology, Institut Universitaire de PathologieLausanne University Hospital
Case Report

DOI: 10.1007/s10689-006-9105-9

Cite this article as:
Vernez, M., Hutter, P., Monnerat, C. et al. Familial Cancer (2007) 6: 141. doi:10.1007/s10689-006-9105-9

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

CholangiocarcinomaHNPCCMuir-Torre syndromeMSH2Sebaceous epithelioma

Abbreviations

CEA

carcino embryonic antigen

HNPCC

hereditary non polyposis colon cancer

MTS

Muir-Torre syndrome

MRI

magnetic resonance imaging

MSI

microsatellite instability

Copyright information

© Springer Science + Business Media B.V. 2006