Department of Neurology and Neurosurgery, Thomas Jefferson University, 901 Walnut St, Room 310G, Philadelphia, PA, 19107, USA.
Curr Oncol Rep. 2024 Nov;26(11):1277-1282. doi: 10.1007/s11912-024-01602-w. Epub 2024 Oct 3.
A number of molecular characteristics are essential for accurate diagnosis and prognostication in glioma.
The 2021 WHO classification of brain tumors and recent Food and Drug Administration (FDA) pathology agnostic drug approvals highlight the importance of molecular testing in the management of glioma. For diffuse gliomas, it is important to identify IDH mutations, given the favorable clinical behavior and potential for using FDA approved IDH inhibitors in the near future. MGMT promoter methylation testing is the most established molecular marker for response to temozolomide in IDH wild-type glioblastoma and in turn impacts overall survival. Moreover, identification of certain mutations and molecular markers, such as BRAF V600E, hypermutation or elevated tumor-mutational burden and NTRK fusions allow for the use of FDA approved agents that are tumor-agnostic. Finally, molecular testing opens options for clinical trials that are essential for diseases with limited treatment options like gliomas.
在胶质瘤的准确诊断和预后判断中，有一些分子特征至关重要。
2021 年世界卫生组织（WHO）脑肿瘤分类和最近美国食品和药物管理局（FDA）的病理学未知药物批准强调了分子检测在胶质瘤管理中的重要性。对于弥漫性胶质瘤，识别 IDH 突变非常重要，因为 IDH 抑制剂在不久的将来具有良好的临床行为和应用潜力。MGMT 启动子甲基化检测是 IDH 野生型胶质母细胞瘤对替莫唑胺反应的最成熟的分子标志物，进而影响总生存期。此外，某些突变和分子标志物的鉴定，如 BRAF V600E、高突变或肿瘤突变负荷升高以及 NTRK 融合，允许使用 FDA 批准的针对肿瘤的药物。最后，分子检测为临床试验提供了选择，对于治疗选择有限的疾病如胶质瘤至关重要。
