V. K. Javalkar, T. Pigott, P. Pal, G. Findlay


December 2007, Volume 16, Issue 3, pp 287 - 292 Case Report Read Full Article 10.1007/s00586-006-0303-9

First Online: 10 January 2007

In this paper authors present two cases of multiple schwannomas without the features of neurofibromatosis (NF). The authors retrospectively reviewed the hospital charts, radiology films, operative notes and pathology slides of these two patients. There was no family history of neurofibromatosis. The two patients had contrast enhanced MRI, which was negative for vestibular schwannomas. Both underwent surgical excision of symptomatic lesions. Histopathology confirmed these lesions as schwannomas. Molecular genetic analysis in case 1 demonstrated two distinct mutations of the NF2 gene in two different schwannomas, with concomitant loss of heterozygosity in both tumours. In contrast peripheral blood lymphocytes did not reveal mutations of NF2. The authors recommend surgery for symptomatic lesions. Asymptomatic tumours can be monitored. Regular follow up is essential as they may develop fresh lesions at any time. The relevant literature is discussed.


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