Tosuner Zeynep, Geçer Melin Özgün, Hatiboğlu Mustafa Aziz, Abdallah Anas, Turna Seval
Department of Pathology, Faculty of Medicine, Bezmialem Vakıf University, İstanbul 34093, Turkey.
Department of Neurosurgery, Faculty of Medicine, Bezmialem Vakıf University, İstanbul 34093, Turkey.
Oncol Lett. 2018 Aug;16(2):2402-2408. doi: 10.3892/ol.2018.8919. Epub 2018 Jun 6.
Abnormalities in proto-oncogene B-Raf (BRAF) are typical in several subgroups of gliomas, including pilocytic astrocytomas, optic nerve gliomas, pleomorphic xanthoastrocytomas (PXA), anaplastic PXAs and gangliogliomas. However, they are rarely reported in adult gliomas. BRAF alterations are frequent in a distinct variant of glioblastomas (GBMs) known as epithelioid GBMs (E-GBMs). There are limited studies on whether immunohistochemistry (IHC) can be used to determine the presence of BRAF VE1 mutations in these tumors. The aim of the current study was to examine BRAF V600E mutations in 20 GBMs, including GBMs with epithelioid features, giant cell GBMs and conventional GBMs. V600 mutations were detected using the Cobas 4800 BRAF V600 Mutation Test, and IHC analysis was also performed. Of the 6 cases of GBM with epithelioid features, 1 exhibited a BRAF V600E mutation, while the other cases did not. IHC staining was positive in 3 out of the 8 conventional GBMs. Vemurafenib is a targeted therapy that has mainly been used for the treatment of melanoma patients for several years, and as a possible alternative treatment for cases of GBM harboring BRAF mutations, its existence may make testing for BRAF status important.
原癌基因B-Raf（BRAF）异常在几种胶质瘤亚组中较为典型，包括毛细胞型星形细胞瘤、视神经胶质瘤、多形性黄色星形细胞瘤（PXA）、间变性PXA和节细胞胶质瘤。然而，它们在成人胶质瘤中很少被报道。BRAF改变在一种被称为上皮样胶质母细胞瘤（E-GBM）的胶质母细胞瘤（GBM）独特变体中很常见。关于免疫组织化学（IHC）是否可用于确定这些肿瘤中BRAF VE1突变的存在，相关研究有限。本研究的目的是检测20例GBM中的BRAF V600E突变，包括具有上皮样特征的GBM、巨细胞GBM和传统GBM。使用Cobas 4800 BRAF V600突变检测法检测V600突变，并进行IHC分析。在6例具有上皮样特征的GBM中，1例出现BRAF V600E突变，其他病例未出现。8例传统GBM中有3例IHC染色呈阳性。维莫非尼是一种靶向治疗药物，多年来主要用于治疗黑色素瘤患者，作为携带BRAF突变的GBM病例的一种可能替代治疗方法，其存在可能使检测BRAF状态变得重要。
