期刊
ACTA NEUROPATHOLOGICA
卷 117, 期 6, 页码 653-656出版社
SPRINGER
DOI: 10.1007/s00401-009-0528-x
关键词
Li-Fraumeni syndrome; IDH1 mutation; Astrocytoma; TP53 germline mutation
Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT -> CAT) being the most common (> 85%). In astrocytomas, IDH1 mutations are typically co-present with, or precede, TP53 mutations. We assessed IDH1 mutations in brain tumors diagnosed in patients from three families with Li-Fraumeni syndrome. We identified IDH1 mutations in five astrocytomas that developed in carriers of a TP53 germline mutation. Without exception, all were R132C (CGT -> TGT), which in sporadic astrocytomas accounts for < 5% of IDH1 mutations. This remarkably selective occurrence of R132C mutations may reflect differences in the sequence of genetic events, with a preference for R132C mutations in astrocytes or precursor cells that already carry a germline TP53 mutation.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据