Glioblastoma multiforme in the Muir-Torre syndrome

Clin Neurol Neurosurg. 2011 Jun;113(5):411-5. doi: 10.1016/j.clineuro.2010.12.011. Epub 2011 Feb 1.

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).

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adenocarcinoma / complications
  • Adenocarcinoma / pathology
  • Adult
  • Brain Neoplasms / complications*
  • Brain Neoplasms / genetics
  • Brain Neoplasms / surgery
  • Colonic Neoplasms / complications
  • Colonic Neoplasms / pathology
  • DNA Mismatch Repair
  • DNA-Binding Proteins / genetics
  • Fatal Outcome
  • Glioblastoma / complications*
  • Glioblastoma / genetics
  • Glioblastoma / surgery
  • Humans
  • Immunohistochemistry
  • Magnetic Resonance Imaging
  • Male
  • Muir-Torre Syndrome / complications*
  • Muir-Torre Syndrome / genetics
  • Muir-Torre Syndrome / surgery
  • MutS Homolog 2 Protein / genetics
  • Neurosurgical Procedures
  • Pedigree
  • Skin Neoplasms / pathology

Substances

  • DNA-Binding Proteins
  • G-T mismatch-binding protein
  • MSH2 protein, human
  • MutS Homolog 2 Protein