| 王银辉 王捷.人脑胶质瘤中的IDH1/2 突变[J].,2014,14(24):4763-4769 |
| 人脑胶质瘤中的IDH1/2 突变 |
| IDH1/2 Mutations in Human Glioma |
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| DOI： |
| 中文关键词: IDH1/2 胶质瘤 基因测序 |
| 英文关键词: Isocitrate dehydrogease Glioma Gene sequencing |
| 基金项目: |
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| 中文摘要: |
| 胶质母细胞瘤的基因组突变分析中发现的异柠檬酸脱氢酶（isocitrate dehydrogenase，IDH1）突变对胶质瘤的认识具有突破
性意义。随后，在胶质瘤中发现了IDH1 的R132 碱基和IDH2 的R172 碱基突变。IDH1 突变较多的发生在WHOII-III级胶质瘤和
继发胶质母细胞瘤中。这种突变改变了异柠檬酸脱氢酶的结构，从而使将异柠檬酸转化为a- 酮戊二酸的能力丧失，而获得将a-
酮戊二酸转化为2-羟基戊二酸这一新的酶活性。在临床中，IDH1和IDH2 突变已经显示对胶质瘤患者有诊断和预后意义。同时，
现今也发展了一些检测方法。 |
| 英文摘要: |
| The discovery of somatic mutations in the isocitrate dehydrogenase(IDH) enzymes through a genome-wide mutational
analysis in glioblastomas represents a milestone in cancer biology. Heterozygous mutations in either the R132 residue of IDH1 or the
R172 residue of IDH2 in human gliomas were recently highlighted. Heterozygous mutations in IDH1 occur in the majority of WHO grade
II and grade III gliomas and secondary glioblastgomas, leading to change of the enzyme structure, inactivation of the enzymatic activity
by converting isocitrate(ICT) to a-ketoglutarate (a-KG), thereby a newly acquired ability due to conversion of a-KG to D-2-hydroxyglutarate
(D-2-HG). IDH1 and IDH2 mutations have shown diagnostic and prognostic value .Some detection methods have been developed . |
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