Glioblastoma multiforme in the Muir-Torre syndrome

Zev A. Binder, Michael W. Johnson, Avadhut Joshi, Christine L. Hann, Constance A. Griffin, Alessandro Olivi, Gregory J. Riggins, Gary L. Gallia

Research output: Contribution to journalArticlepeer-review

Abstract

Muir-Torre syndrome (MTS) is an autosomal dominant subtype of nonpolyposis colorectal carcinoma (HNPCC) characterized by the development of sebaceous gland tumors and visceral malignancies. The most common subtype of MTS is characterized by germline mutations in mismatch repair (MMR) genes leading to microsatellite instability (MSI). Central nervous system tumors have only rarely been associated with MTS. In this report, we describe the development of a glioblastoma multiforme (GBM) in a patient with MTS. Immunohistochemical analysis of the patient's colon carcinoma and his GBM both revealed loss of the mismatch repair proteins mutS homolog 2 (MSH2) and mutS homolog 6 (MSH6).

Original languageEnglish (US)
Pages (from-to)411-415
Number of pages5
JournalClinical Neurology and Neurosurgery
Volume113
Issue number5
DOIs
StatePublished - Jun 1 2011

Keywords

  • Brain cancer
  • Glioblastoma
  • Mismatch repair protein
  • Muir-Torre
  • Mutation

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology

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