What do we know about IDH1/2 mutations so far, and how do we use it?

被引：137

作者：

Horbinski, Craig ^{[1
]}

机构：

[1] Univ Kentucky, Dept Pathol, Combs Canc Res Facil 307, Lexington, KY 40536 USA

来源：

ACTA NEUROPATHOLOGICA | 2013年 / 125卷 / 05期

关键词：

IDH1/2; 2-Hydroxyglutarate; Glioma; Histone; Methylation; NADP(+)-DEPENDENT ISOCITRATE DEHYDROGENASE; ACUTE MYELOID-LEUKEMIA; MAGNETIC-RESONANCE-SPECTROSCOPY; PREDICT LONGER SURVIVAL; LOW-GRADE ASTROCYTOMAS; CODON; 132; MUTATION; IDH2; MUTATIONS; IN-VIVO; OLIGODENDROGLIAL TUMORS; PROGNOSTIC VALUE;

D O I：

10.1007/s00401-013-1106-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Whole genome analyses have facilitated the discovery of clinically relevant genetic alterations in a variety of diseases, most notably cancer. A prominent example of this was the discovery of mutations in isocitrate dehydrogenases 1 and 2 (IDH1/2) in a sizeable proportion of gliomas and some other neoplasms. Herein the normal functions of these enzymes, how the mutations alter their catalytic properties, the effects of their d-2-hydroxyglutarate metabolite, technical considerations in diagnostic neuropathology, implications about prognosis and therapeutic considerations, and practical applications and controversies regarding IDH1/2 mutation testing are discussed.

引用

页码：621 / 636

页数：16

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