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MUTATIONS DEFINE CLINICAL SUBGROUPS OF GLIOMAS

机译:突变定义了胶质瘤的临床亚群

摘要

Genetic signatures capable of distinguishing among several types of gliomas provide clinically relevant information that can serve as an adjunct to histopathological diagnosis. For example, mutations in the TERT promoter occurred in 74.2% of glioblastomas (GBM), but occurred in a minority of Grade II-III astrocytomas (18.2%). In contrast, IDH1/2 mutations were observed in 78.4% of Grade II-III astrocytomas, but were uncommon in primary GBM. The genetic signatures permit the stratification of the glioma patients into distinct cohorts.
机译:能够区分几种类型的神经胶质瘤的遗传特征提供了临床相关信息,可以作为组织病理学诊断的辅助手段。例如,TERT启动子中的突变发生在74.2%的胶质母细胞瘤(GBM)中,但发生在少数II-III级星形细胞瘤中(18.2%)。相反,在78.4%的II-III级星形细胞瘤中观察到IDH1 / 2突变,但在原发性GBM中并不常见。遗传标记使神经胶质瘤患者分为不同的队列。

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