Bilateral vestibular schwannomas in older patients: NF2 or chance?. Issue 6 (27th February 2015)

• Record Type: Journal Article
• Authors: Evans, D G; Freeman, S; Gokhale, C; Wallace, A; Lloyd, S K; Axon, P; Ward, C L; Rutherford, S; King, A; Huson, S M; Ramsden, R T
• Other Names: Thomas Owen author non-byline.; Potter Gillian author non-byline.; Laitt Roger author non-byline.; Stivarou Stavros author non-byline.; Kellett Mark author non-byline.; Vassallo Grace author non-byline.; Ealing John author non-byline.; Kamaly Ian author non-byline.; Mallucci Conor author non-byline.; Lloyd Simon author non-byline.; Mawman Deborah author non-byline.; O'Driscoll Martin author non-byline.; Kilday John-Paul author non-byline.; McCabe Martin author non-byline.; McBain Catherine author non-byline.; Anup Raji author non-byline.; Perry Mary author non-byline.; Jarvis Nicola author non-byline.; Braithwaite Patricia author non-byline.; Duff Chris author non-byline.; Mowatt David author non-byline.; Gajdosova Eva author non-byline.; Sadiq Ahmed author non-byline.; Fitzgerald Lisa author non-byline.; Scott-Kitching Vilka author non-byline.; Howie Emma author non-byline.; Patel Sonia author non-byline.
• Is Part Of: Journal of medical genetics. Volume 52:Issue 6(2015)
• Page Start: 422
• Page End: 424
• Publication Date: 2015-02-27
• Subjects: Cancer: CNS -- Diagnosis -- Epidemiology -- Genetic epidemiology; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2014-102973
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Background: Neurofibromatosis type 2 (NF2) is an autosomal dominant condition with high spontaneous mutation rate which predisposes to the development of multiple nerve sheath tumours (schwannomas), meningiomas and ependymoma. The cardinal feature and main diagnostic criterion for the diagnosis of NF2 remains the development of bilateral vestibular schwannoma (BVS). With increasing use of MRI screening the possibility of a 'chance' diagnosis of BVS has been mooted with a potential frequency of one in two million people in their lifetime. Until now, however, no evidence for such an event has been published. We aimed to demonstrate that chance occurrence can occur and to estimate its frequency among those with just BVS late in life. Methods: Two vestibular schwannomas from the same patient were DNA sequenced and underwent loss of heterozygosity analysis. Results: We show that a man who developed BVS, at ages 52 and 67 years developed these tumours sporadically by demonstrating that there were no molecular events in common between the two tumours. Furthermore from a database of over 1200 patients with NF2, we have estimated that ∼25% of cases of BVS over 50 years and 50% over 70 years of age where no other features of NF2 are present represent a chance occurrence rather than due to an underlying mosaic or constitutional NF2 mutation. Conclusions: Patients presenting with BVS later in life should be appraised of the potential likelihood they may not have NF2 and the resultant further reduction in risks of transmission to offspring.