Department of Neuropathology, Institute of Pathology, Ruprecht-Karls-University Heidelberg, and Clinical Cooperation Unit Neuropathology, German Cancer Research Center, Heidelberg, Germany.
Brain Pathol. 2011 Jan;21(1):74-87. doi: 10.1111/j.1750-3639.2010.00454.x.
For some, glioma biomarkers have been expected to solve common diagnostic problems in routine neuropathology service caused by insufficient material, technical shortcomings or lack of experience. Further, biomarkers should predict patient outcome and direct optimal therapy for the individual patient. Unfortunately, current biomarkers still fall somewhat short of these grand expectations. While there has been some progress, it has generally been slow and in small steps. In this review, the newest set of glioma biomarkers: O(6) -methylguanine-DNA methyltransferase (MGMT) methylation, BRAF fusion and IDH1 mutation are discussed. MGMT methylation is well established as a prognostic/predictive marker for glioblastoma; however, technical questions regarding testing remain, it is not currently utilized widely in guiding patient management, and it has proven to be of no assistance in diagnostics. In contrast, BRAF fusion and IDH1 mutation analyses promise to be very helpful for classifying and grading gliomas, while their potential predictive value has yet to be established.
对于一些人来说,神经胶质瘤生物标志物有望解决常规神经病理学服务中由于材料不足、技术缺陷或经验缺乏而导致的常见诊断问题。此外,生物标志物还应预测患者的预后,并为每位患者提供最佳治疗方案。不幸的是,目前的生物标志物仍未能完全满足这些期望。尽管取得了一些进展,但总体来说进展缓慢,而且进展幅度较小。在这篇综述中,讨论了最新的一组神经胶质瘤生物标志物:O(6)-甲基鸟嘌呤-DNA 甲基转移酶(MGMT)甲基化、BRAF 融合和 IDH1 突变。MGMT 甲基化已被广泛确立为胶质母细胞瘤的预后/预测标志物;然而,关于检测的技术问题仍然存在,它目前在指导患者管理方面并未得到广泛应用,并且在诊断方面也没有帮助。相比之下,BRAF 融合和 IDH1 突变分析有望对神经胶质瘤的分类和分级非常有帮助,而它们的潜在预测价值尚未得到证实。