Ruttledge M H, Sarrazin J, Rangaratnam S, Phelan C M, Twist E, Merel P, Delattre O, Thomas G, Nordenskjöld M, Collins V P
Centre for research in Neuroscience, McGill University, Montreal, Quebec, Canada.
Nat Genet. 1994 Feb;6(2):180-4. doi: 10.1038/ng0294-180.
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.
脑膜瘤是常见的中枢神经系统肿瘤,通常出现在40至50岁之间。60%的散发性脑膜瘤在22号染色体上出现体细胞杂合性缺失,这意味着有一个肿瘤抑制基因参与其中。对参与脑膜瘤形成的主要候选基因——2型神经纤维瘤病基因(NF2)进行了点突变筛查。在检测了151例脑膜瘤中16个已知NF2外显子中的8个之后,鉴定出24个失活突变。值得注意的是,这些畸变仅在丢失另一条22号染色体等位基因的肿瘤中检测到。这些结果提供了强有力的证据,表明在脑膜瘤中经常失活的22号染色体上的抑制基因是NF2基因,并表明另一个基因参与了40%的脑膜瘤的发生发展。