Unité Inserm U842, Service de Neurologie B, Hôpital Neurologique, Université Claude Bernard Lyon 1, Lyon, France.
Curr Opin Oncol. 2009 Nov;21(6):537-42. doi: 10.1097/CCO.0b013e32833065a7.
This review summarizes recent studies on diagnostic and prognostic markers in gliomas such as the BRAF fusion gene in pilocytic astrocytomas and 1p/19q codeletion, O-6-methylguanine-DNA methyltransferase status and isocitrate dehydrogenase 1 (IDH1)/IDH2 mutations in diffuse gliomas.
In pilocytic astrocytomas, the BRAF fusion gene has been recently identified as a specific and frequent event leading to potentially targetable mitogen-activated protein kinase pathway activation. In grade II/III gliomas and in glioblastomas, chromosome 1p/19q codeletion and O-6-methylguanine-DNA methyltransferase status remain the most important prognostic and predictive markers. Recently identified mutations in IDH1/IDH2, however, are specific for diffuse gliomas, occur frequently in grade II/III gliomas and are of prognostic value in grade III gliomas, as well in glioblastomas in which they characterize secondary glioblastomas.
Extensive molecular studies have enabled the discovery of new diagnostic and prognostic markers that are refining the histomolecular classification of gliomas.
本文综述了近年来胶质瘤的诊断和预后标志物的研究进展,例如毛细胞型星形细胞瘤中的 BRAF 融合基因和 1p/19q 缺失、弥漫性胶质瘤中的 O-6-甲基鸟嘌呤-DNA 甲基转移酶状态和异柠檬酸脱氢酶 1(IDH1)/异柠檬酸脱氢酶 2(IDH2)突变。
在毛细胞型星形细胞瘤中,BRAF 融合基因最近被确定为一种特定且频繁的事件,导致潜在的可靶向丝裂原活化蛋白激酶通路激活。在 2/3 级胶质瘤和胶质母细胞瘤中,1p/19q 缺失和 O-6-甲基鸟嘌呤-DNA 甲基转移酶状态仍然是最重要的预后和预测标志物。然而,最近发现的 IDH1/IDH2 突变是弥漫性胶质瘤所特有的,在 2/3 级胶质瘤中频繁发生,在 3 级胶质瘤中具有预后价值,在胶质母细胞瘤中,它们是继发性胶质母细胞瘤的特征。
广泛的分子研究使新的诊断和预后标志物得以发现,这些标志物正在完善胶质瘤的组织分子分类。