SMARCB1 mutations are not a common cause of multiple meningiomas

J Med Genet. 2010 Aug;47(8):567-8. doi: 10.1136/jmg.2009.075721. Epub 2010 May 14.

Abstract

Background: Schwannomas and meningiomas are both part of the tumour spectrum of neurofibromatosis type 2 (NF2) and are associated with somatic loss of chromosome 22. They are also found commonly within the general population, unrelated to NF2. Germline SMARCB1 mutations have recently been identified as a pathogenic cause of a subset of familial schwannomatosis cases, and SMARCB1 is a candidate gene for causation of both schwannomas and meningiomas. Recently, Bacci et al reported a germline SMARCB1 mutation associated with familial schwannomatosis and multiple meningiomas. They concluded that SMARCB1 mutations can predispose to multiple meningiomas.

Methods: We screened the SMARCB1 gene in a panel of 47 patients with multiple meningioma unrelated to NF2.

Results: We found no germline mutations.

Conclusion: We conclude that while meningiomas may be associated with the schwannomatosis phenotype, SMARCB1 is not a major contributor to multiple meningioma disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomal Proteins, Non-Histone / genetics*
  • DNA-Binding Proteins / genetics*
  • Humans
  • Meningeal Neoplasms / genetics*
  • Meningioma / genetics*
  • Mutation / genetics*
  • SMARCB1 Protein
  • Transcription Factors / genetics*

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors