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SMARCB1 mutations are not a common cause of multiple meningiomas
  1. K D Hadfield,
  2. M J Smith,
  3. D Trump,
  4. W G Newman,
  5. D G Evans
  1. Department of Medical Genetics, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK
  1. Correspondence to Professor D G Evans, Department of Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St Mary's Hospital, University of Manchester, Manchester M13 9WL, UK; gareth.evans{at}cmft.nhs.uk

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.

  • Meningioma
  • schwannoma
  • SMARCB1
  • NF2, molecular genetics
  • oncology

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Footnotes

  • Funding The Children's Tumor Foundation, 95 Pine Street, 16th Floor New York, N.Y. 10005, USA; Cancer Research UK, P.O. Box 123 Lincoln's Inn Fields London WC2A 3PX

  • Competing interests None.

  • Ethics approval Approval for the study was provided by the local ethics committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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