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MSH6 Mutation in a Family Affected by MuirTorre Syndrome

Kacerovska, Denisa MD, PhD*; Cerna, Katerina PhD; Martinek, Petr MSc; Grossmann, Petr RNDr; Michal, Michal MD*,†; Ricar, Jan MD; Kazakov, Dmitry V. MD, PhD*

American Journal of Dermatopathology:
doi: 10.1097/DAD.0b013e3182446fe2
Extraordinary Case Report

Abstract: Muir–Torre syndrome (MTS), a phenotypic variant of the more common hereditary nonpolyposis colorectal cancer syndrome, or Lynch syndrome, is an autosomal dominantly inherited condition that combines at least one cutaneous sebaceous neoplasm and at least one visceral malignancy. Most patients (∼90%) with MTS carry mutations in the MSH2 gene; less than 10% of the cases are associated with a mutation MLH1 gene, and only 3 MTS patients with a pathogenic MSH6 mutation have been previously documented. We report a family affected with MTS in which 3 members (father and 2 sons) were found to harbor a missense mutation c.2633T>C (p.V878A) in exon 4 of the MSH6 gene.

Author Information

*Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic

Bioptical Laboratory, Pilsen, Czech Republic

Department of Dermatology and Venereology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic.

Reprints: Dmitry V. Kazakov, MD, Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Alej Svobody 80, 304 60 Pilsen, Czech Republic (e-mail:

Supported by the grant of Specific University Research of Charles University in Prague (SVV 262801/2011). The abbreviation SVV is for translation from the Czech from above.

The authors declare no conflicts of interest.

© 2012 Lippincott Williams & Wilkins, Inc.