Department of Pathology, University of Kentucky, Lexington, Kentucky 40536, USA.
J Neuropathol Exp Neurol. 2013 Jan;72(1):2-7. doi: 10.1097/NEN.0b013e318279f3db.
Alterations in BRAF have been discovered in most pediatric low-grade gliomas. Because the field has moved quickly during the past few years, there is not yet widespread awareness about what B-Raf normally does, how the BRAF gene is modified in gliomas, why mutant proteins promote gliomagenesis, and what an abnormal BRAF result means for diagnosis, prognosis, and treatment. Depending on the data from ongoing clinical trials, however, BRAF mutation screening could quickly become mandatory for all pediatric gliomas and perhaps even a subset of adult gliomas. Herein, these topics and different methods of testing for BRAF fusions and V600E point mutations are reviewed.
在大多数儿科低级别胶质瘤中发现了 BRAF 的改变。由于在过去几年中该领域发展迅速,目前对于 B-Raf 通常的作用、BRAF 基因在胶质瘤中如何发生改变、突变蛋白为何促进胶质瘤发生、以及异常 BRAF 结果对诊断、预后和治疗的意义尚没有广泛认识。然而,根据正在进行的临床试验的数据,BRAF 突变筛查可能很快成为所有儿科胶质瘤甚至某些成人胶质瘤的强制性检测。本文综述了这些主题以及检测 BRAF 融合和 V600E 点突变的不同方法。