IDH1 R132H

在许多癌症类型中观察到IDH1R132突变，并且在不同的环境中表现出很大的不同。在骨髓增生异常综合征和急性髓性白血病（AML）中，IDH1 R132突变与更差的预后和更短的总生存期相关。他们也与细胞遗传学上正常的AML有关，AML是该病的一种中等风险亚型。然而，在胶质母细胞瘤和星形细胞瘤中，idh1突变患者的总生存率高于野生型idh1患者。与AML相比，在胶质母细胞瘤中，idh1突变与特异性细胞遗传学异常、1p和19q缺失有关。
IDH1 R132 mutations have been observed in a number of cancer types, and appear to behave quite differently in different environments. In myelodysplastic syndromes and acute myeloid leukemia (AML), IDH1 R132 mutations have been shown to be associated with worse outcome and shorter overall survival. They have also been linked to cytogenetically normal AML, an intermediate risk subtype of the disease. However, in glioblastoma and astrocytoma, patients with IDH1 mutations have shown better overall survival than patients with wild-type IDH1. Also in contrast to AML, in glioblastoma, IDH1 mutations have been associated with the specific cytogenetic abnormalities, 1p and 19q deletions.