弥漫性胶质瘤——罕见的异柠檬酸脱氢酶纯合子点突变，它是一种致癌机制吗？
Diffuse glioma - Rare homozygous IDH point mutation, is it an oncogenetic mechanism?
作者信息
Singh Angad, Gurav Mamta, Dhanavade Sandeep, Shetty Omshree, Epari Sridhar
机构信息
Division of Molecular Pathology, Department of Pathology, Tata Memorial Centre, Parel, Mumbai, India.
出版信息
Neuropathology. 2017 Dec;37(6):582-585. doi: 10.1111/neup.12401. Epub 2017 Aug 7.
Isocitrate dehydrogenase (IDH1/IDH2) mutations in gliomas of WHO grade II/III and secondary glioblastoma are almost always heterozygous missense mutations. Here, we report an extremely rare case of homozygous IDH1R132H mutation in a recurrent WHO grade III anaplastic astrocytoma. The authors here also review the relevant literature for the possible metabolic impact of homozygous IDH1/2 mutations in the gliomagenesis.
世界卫生组织（WHO）二级/三级胶质瘤和继发性胶质母细胞瘤中的异柠檬酸脱氢酶（IDH1/IDH2）突变几乎均为杂合错义突变。在此，我们报告了1例极为罕见的复发性WHO三级间变性星形细胞瘤中存在纯合IDH1R132H突变的病例。本文作者还回顾了相关文献，以探讨IDH1/2纯合突变在胶质瘤发生过程中可能产生的代谢影响。
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