Abstract：
Gliomas are the most common adult and pediatric primary brain tumors. Molecular studies have identified features that can enhance diagnosis and provide biomarkers. IDH1/2 mutation with ATRX and TP53 mutations defines diffuse astrocytomas, whereas IDH1/2 mutations with 1p19q loss defines oligodendroglioma. Focal amplifications of receptor tyrosine kinase genes, TERT promoter mutation, and loss of chromosomes 10 and 13 with trisomy of chromosome 7 are characteristic features of glioblastoma and can be used for diagnosis. BRAF gene fusions and mutations in low-grade gliomas and histone H3 mutations in high-grade gliomas also can be used for diagnostics.
摘要：
胶质瘤是最常见的成人和儿童原发性脑肿瘤。分子研究已经确定了可以增强诊断并提供生物标志物的特征。具有ATRX和TP53突变的IDH1/2突变定义了弥漫性星形细胞瘤，而具有1p19q缺失的IDH1/2突变定义了少突胶质细胞瘤。受体酪氨酸激酶基因的局灶性扩增，TERT启动子突变,10号染色体和13号染色体缺失，7号染色体三体性是胶质母细胞瘤的特征性特征，可用于诊断。低级别神经胶质瘤中的BRAF基因融合和突变以及高级别神经胶质瘤中的组蛋白H3突变也可用于诊断。
