EVIDENCE FOR THE COMPLETE INACTIVATION OF THE NF2 GENE IN THE MAJORITY OF SPORADIC MENINGIOMAS
EVIDENCE FOR THE COMPLETE INACTIVATION OF THE NF2 GENE IN THE MAJORITY OF SPORADIC MENINGIOMAS
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DOI：
10.1038/ng0294-180
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发表时间：
1994-02-01
期刊：
影响因子：
30.8
通讯作者：
ROULEAU, GA
中科院分区：
文献类型：
--
作者：
RUTTLEDGE, MH;SARRAZIN, J;ROULEAU, GA
脑膜瘤是一种常见的中枢神经系统肿瘤，通常发生在40岁和50岁。在60%的散发性脑膜瘤中，22号染色体的结构杂合性缺失暗示了肿瘤抑制基因的参与。神经纤维瘤病2型基因（NF2），参与脑膜瘤的主要候选，筛选点突变。在检查了151个脑膜瘤中16个已知NF2外显子中的8个后，表征了24个失活突变。值得注意的是，这些畸变只在失去另一个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，证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%脑膜瘤的发展。
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.