Multiple meningiomas: differential involvement of the NF2 gene in children and adults
- 1Academic Unit of Department of Medical Genetics, National Genetics Reference Laboratory and Regional Genetics Service, St Mary’s Hospital, Manchester, UK
- 2Department of Neurosurgery, Hope Hospital, Manchester
- 3Los Angeles, California, USA
- Correspondence to: Dr D Gareth R Evans Department of Medical Genetics, St Mary’s Hospital, Hathersage Road, Manchester M13 0JH, UK; gareth.evanscmmc.nhs.uk
- Received 12 August 2004
- Accepted 12 August 2004
Abstract
Objective: To screen for NF2 mutations in people with meningiomas.
Methods: Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age ≤15 years without vestibular schwannoma (VS), or who had multiple meningiomas in adulthood before the diagnosis of VS.
Results: Eight of 13 people with meningioma and other features of neurofibromatosis 2 (NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations.
Conclusions: Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non-VS features of NF2. Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.
- LOH, loss of heterozygosity
- NF2, neurofibromatosis 2
- SSCP, single strand conformation polymorphism
- VS, vestibular schwannoma
Footnotes
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Competing interests: none declared
