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Open Access Research article

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

Guillaume Rousseau12, Tetsuro Noguchi2, Violaine Bourdon2, Hagay Sobol23 and Sylviane Olschwang24*

Author Affiliations

1 Neuropediatrics Department, Children Hospital, Montreal, Canada

2 Laboratory of Molecular Oncogenetics, Institut Paoli-Calmettes; Marseille, France

3 Université La Méditerranée; Marseille, France

4 Centre de Recherche en Cancérologie de Marseille, Institut Paoli-Calmettes, 232 boulevard Sainte-Marguerite, 13009 Marseille, France

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BMC Neurology 2011, 11:9  doi:10.1186/1471-2377-11-9

Published: 24 January 2011

Abstract

Background

Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the SMARCB1 (INI1) tumor suppressor gene were described in familial and sporadic schwannomatosis patients.

Methods

To delineate the SMARCB1 gene contribution, the nine coding exons were sequenced in a series of 56 patients affected with a variable number of non-vestibular schwannomas.

Results

Nine variants scattered along the sequence of SMARCB1 were identified. Five of them were classified as deleterious. All five patients carrying a SMARCB1 mutation had more multiple schwannomas, corresponding to 10.2% of patients with schwannomatosis. They were also diagnosed before 35 years of age.

Conclusions

These results suggest that patients with schwannomas have a significant probability of carrying a SMARCB1 mutation. Combined with data available from other studies, they confirm the clinical indications for genetic screening of the SMARCB1 gene.