突变代谢酶是神经胶质瘤的起源。
Mutant metabolic enzymes are at the origin of gliomas.
机构信息
The Pediatric Brain Tumor Foundation Institute, Duke University Medical Center, Durham, North Carolina, USA.
出版信息
Cancer Res. 2009 Dec 15;69(24):9157-9. doi: 10.1158/0008-5472.CAN-09-2650.
Abstract
Mutations of the isocitrate dehydrogenase (IDH) metabolic enzymes IDH1 and IDH2 have been found to be frequent and early genetic alterations in astrocytomas and oligodendrogliomas. All mutations identified to date affect a single amino acid located within the isocitrate binding site (R132 of IDH1 and the analogous R172 residue of IDH2). IDH1 and IDH2 mutations define a specific subtype of gliomas and may have significant utility for the diagnosis, prognosis, and treatment of patients with these tumors.
摘要
异柠檬酸脱氢酶（IDH）代谢酶 IDH1 和 IDH2 的突变已被发现是星形细胞瘤和少突胶质细胞瘤中频繁且早期的遗传改变。迄今为止，所有鉴定的突变都影响位于异柠檬酸结合位点内的单个氨基酸（IDH1 的 R132 和 IDH2 的类似 R172 残基）。IDH1 和 IDH2 突变定义了特定的神经胶质瘤亚型，对于这些肿瘤患者的诊断、预后和治疗可能具有重要意义。
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