Glioblastoma multiforme in the Muir-Torre syndrome.

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).

• Authors: Zev A Binder, Michael W Johnson, Avadhut Joshi, Christine L Hann, Constance A Griffin, Alessandro Olivi, Gregory J Riggins, Gary L Gallia
• Journal: Clinical neurology and neurosurgery (Clin Neurol Neurosurg) Vol. 113 Issue 5 Pg. 411-5 (Jun 2011) ISSN: 1872-6968 [Electronic] Netherlands
• PMID: 21288634 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
• Copyright: Copyright © 2011 Elsevier B.V. All rights reserved.

Chemical References

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

Topics

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