Bilateral vestibular schwannomas in older patients: NF2 or chance?

Journal of Medical Genetics
D Gareth R EvansManchester NF2 service

Abstract

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. Two vestibular schwannomas from the same patient were DNA sequenced and underwent loss of heterozygosity analysis. 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 occurre...Continue Reading

References

Sep 9, 1996·Archives of Internal Medicine·L SznajderA B Schneider
Dec 11, 2002·Neurology·M E BaserD G R Evans
Feb 9, 2005·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·D Gareth R EvansRichard Ramsden
Jan 19, 2010·American Journal of Medical Genetics. Part a·D G EvansF Lalloo
Apr 1, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michael E BaserD Gareth R Evans
Nov 22, 2011·Clinical Genetics·D G EvansD Halliday
Jan 17, 2013·American Journal of Medical Genetics. Part a·Stéphane GoutagnyMichel Kalamarides
Dec 7, 2014·Neurology·Miriam J SmithD Gareth Evans

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Citations

Apr 20, 2017·American Journal of Medical Genetics. Part a·Felix BoksteinShay Ben-Shachar
Jul 26, 2018·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Maria PaschalidouAristidis Arhakis
Jun 5, 2019·Acta Neuropathologica·Shannon CoySandro Santagata
Apr 18, 2019·Clinical Genetics·Dorothy HallidayUNKNOWN English NF2 research group
Jun 18, 2018·Journal of Neurology, Neurosurgery, and Psychiatry·D Gareth EvansMiriam J Smith
Dec 12, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·D Gareth EvansUNKNOWN English Specialist NF2 Research Group
Jul 6, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·D Gareth EvansMiriam J Smith
Feb 18, 2020·The Laryngoscope·Mohamed ElsayedMichel Kalamarides
Sep 16, 2020·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·A Yu RyndaYu M Zabrodskaya
Nov 2, 2017·Expert Review of Neurotherapeutics·Jane HallidayDafydd G Evans

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