Nature Genetics
6, 180 - 184 (1994)
doi:10.1038/ng0294-180
Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomasMartin H. Ruttledge1, 2, 3, Julie Sarrazin1, Shyam Rangaratnam4, Catherine M. Phelan3, Elspeth Twist1, Philippe Merel5, Olivier Delattre5, Gilles Thomas5, Magnus Nordenskjöld3, V. Peter Collins2, 6, Jan P. Dumanski3
& Guy A. Rouleau1, 4
1Centre for research in Neuroscience, McGill University and Montreal General Hospital Research Institute, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada
2Ludwig Institute for Cancer Research, Karolinska Hospital, Box 60004, S-10401 Stockholm, Sweden
3Department of Clinical Genetics, Karolinska Hospital, Box 60500, S-10401 Stockholm, Sweden
4McGill University Division of Medical Genetics, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada
5Laboratoire de Genetique des tumeurs, CJF INSERM 9201, Institut Curie, 26 rue d'Uln, 75231, Paris, Cedex 05, France
6Department of Pathology, Sahlgrenska Hospital, Gothenburg 41345, Sweden Correspondence should be addressed to M.H.R. Meningiomas are common central nervous system tumours which present usually in the 4th and 5th decades of life. Loss of constitutional heterozygosity on chromosome 22 in 60% of sporadic meningiomas has implied the involvement of a tumour suppressor gene. The neurofibromatosis type 2 gene (NF2), a prime candidate for involvement in meningioma, was screened for point mutations. After examining eight of the 16 known NF2 exons in 151 meningiomas, 24 inactivating mutations were characterized. Significantly, these aberrations were exclusively detected in tumours which lost the other chromosome 22 allele. These results provide strong evidence that the suppressor gene on chromosome 22, frequently inactivated in meningioma, is the NF2 gene, and suggest that another gene is involved in the development of 40% of meningiomas.
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