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SMARCB1 mutations are not a common cause of multiple meningiomas

2010; BMJ; Volume: 47; Issue: 8 Linguagem: Inglês

10.1136/jmg.2009.075721

1468-6244

Kristin Hadfield, Miriam J. Smith, Dorothy Trump, William G. Newman, D. Gareth Evans,

Meningioma and schwannoma management

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.