Department of Neurosurgery, Hokkaido University School of Medicine, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
Department of Neurosurgery, Hokkaido Neurosurgical Memorial Hospital, 1-20, Hachiken 9-jo, Higashi 5-chome, Nishi-ku, Sapporo, 063-0869, Japan.
Brain Tumor Pathol. 2022 Jul;39(3):162-170. doi: 10.1007/s10014-022-00432-7. Epub 2022 Apr 1.
The aim of this study was to analyze the clinical and radiological characteristics of glioblastomas (GBMs) harboring a BRAF mutation. Sequencing analysis of BRAF, IDH1/2, and TERT promoters was performed on GBM samples of patients older than 15 years. The clinical, pathological, and radiological data of patients were retrospectively reviewed. Patients were classified into three groups according to their BRAF and IDH1/2 status: BRAF group, IDH group, and BRAF/IDH-wild-type (WT) group. Among 179 GBM cases, we identified nine cases with a BRAF mutation and nine with IDH mutation. The WT group had 161 cases. Age at onset in the BRAF group was significantly lower compared to the WT group and was similar to the IDH group. In cases with negative IDH1-R132H staining and age < 55 years, 15.2% were BRAF-mutant cases. Similar to the IDH group, overall survival of the BRAF group was significantly longer compared with the WT group. Among nine cases in the BRAF group, three cases had hemorrhagic onset and prior lesions were observed in two cases. In conclusion, age < 55 years, being IDH1-R132H negative, with hemorrhagic onset or the presence of prior lesions are factors that signal recommendation of BRAF analysis for adult GBM patients.
本研究旨在分析携带 BRAF 突变的胶质母细胞瘤（GBM）的临床和影像学特征。对 15 岁以上患者的 GBM 样本进行 BRAF、IDH1/2 和 TERT 启动子的测序分析。回顾性分析患者的临床、病理和影像学资料。根据 BRAF 和 IDH1/2 状态将患者分为三组：BRAF 组、IDH 组和 BRAF/IDH 野生型（WT）组。在 179 例 GBM 病例中，我们发现 9 例存在 BRAF 突变，9 例存在 IDH 突变。WT 组有 161 例。BRAF 组的发病年龄明显低于 WT 组，与 IDH 组相似。在 IDH1-R132H 染色阴性且年龄<55 岁的病例中，15.2%为 BRAF 突变病例。与 IDH 组相似，BRAF 组的总生存期明显长于 WT 组。在 BRAF 组的 9 例病例中，有 3 例为出血性起病，2 例有先前病变。总之，年龄<55 岁、IDH1-R132H 阴性、出血性起病或有先前病变是提示对成人 GBM 患者进行 BRAF 分析的因素。
