Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas
- Christiaans, I.
- Kenter, S.B.
- Brink, H.C.
- van Os, T.A.M.
- Baas, F.
- van den Munckhof, P.
- Kidd, A.M.J.
- Hulsebos, T.J.M.
DOIAbstract
Background Multiple meningiomas occur in <10% of meningioma patients. Their development may be caused by the presence of a predisposing germline mutation in the neurofibromatosis type 2 (NF2) gene. The predisposing gene in patients with non-NF2 associated multiple meningiomas remains to be identified. Recently, SMARCB1 was reported to be a potential predisposing gene for multiple meningiomas in a family with schwannomatosis and multiple meningiomas. However, involvement of this gene in the development of the meningiomas was not demonstrated. Results Five affected members of a large family with multiple meningiomas were investigated for the presence of mutations in SMARCB1 and NF2. A missense mutation was identified in exon 2 of SMARCB1 as t...
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