Multiple meningiomas: differential involvement of the NF2 gene in children and adults. Issue 1 (5th January 2005)

• Record Type: Journal Article
• Authors: Evans, D G R; Watson, C; King, A; Wallace, A J; Baser, M E
• Is Part Of: Journal of medical genetics. Volume 42:Issue 1(2005)
• Page Start: 45
• Page End: 48
• Publication Date: 2005-01-05
• Subjects: LOH, loss of heterozygosity -- NF2, neurofibromatosis 2 -- SSCP, single strand conformation polymorphism -- VS, vestibular schwannoma; DAL1 -- NF2 -- meningioma -- mosaicism; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2004.023705
• Languages: English
• ISSNs: 1468-6244

Abstract

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.