Familial Cancer

, Volume 6, Issue 1, pp 141–145 | Cite as

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

  • M. Vernez
  • P. Hutter
  • C. Monnerat
  • N. Halkic
  • O. Gugerli
  • H. BouzoureneEmail author
Case Report


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.


Cholangiocarcinoma HNPCC Muir-Torre syndrome MSH2 Sebaceous epithelioma 



carcino embryonic antigen


hereditary non polyposis colon cancer


Muir-Torre syndrome


magnetic resonance imaging


microsatellite instability


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Copyright information

© Springer Science + Business Media B.V. 2006

Authors and Affiliations

  • M. Vernez
    • 1
  • P. Hutter
    • 2
  • C. Monnerat
    • 3
  • N. Halkic
    • 4
  • O. Gugerli
    • 5
  • H. Bouzourene
    • 1
    Email author
  1. 1.Department of Pathology, Institut Universitaire de PathologieLausanne University HospitalLausanneSwitzerland
  2. 2.Division of Medical GeneticsICHVSionSwitzerland
  3. 3.Department of GeneticsLausanne University HospitalLausanneSwitzerland
  4. 4.Department of SurgeryLausanne University HospitalLausanneSwitzerland
  5. 5.Department of DermatologyLausanne University HospitalLausanneSwitzerland

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