胶质瘤中BRAF基因异常的研究进展

doi:10.3969/j.issn.1006-7795.2020.03.012

摘要/Abstract

摘要： BRAF是生长信号转导蛋白激酶RAF基因家族成员之一，调控丝裂原活化蛋白激酶/细胞外信号相关激酶通路，在细胞分裂、分化和发育中发挥重要作用。目前常见的BRAF基因异常包括BRAF基因突变和BRAF基因融合。近些年研究显示BRAF基因的异常改变可发生于多种胶质瘤类型，并且作为独特的分子遗传学特征为胶质瘤的诊断、预后及治疗提供重要依据。本文就BRAF基因在胶质瘤中的异常的形式、机制、检测以及临床诊治意义等研究进展做一综述。

关键词: 胶质瘤, BRAF V600E基因突变, KIAA1549-BRAF基因融合, BRAF抑制剂

Abstract: The serine threonine kinase v-RAF murine sarcoma viral oncogene homologue B1 (BRAF) is a member of the growth signal transduction protein kinase RAF gene family, which regulates mitogen-activated protein kinase/extracellular signal-related kinase pathways and plays an important role in cell division, differentiation and development. BRAF alteration mostly includes BRAF gene mutation and fusion. In recent years, alterations in BRAF are detected in a variety of glioma types. As a unique molecular genetic feature, BRAF alterations provide an important basis for the diagnosis, prognosis and treatment of glioma. This article reviewed the abnormal forms, mechanism and detection of BRAF gene, as well as the role of BRAF alteration in the diagnosis and treatment of glioma.

Key words: glioma, BRAF V600E mutation, KIAA1549-BRAF fusion, BRAF inhibitor

中图分类号:

R739.41

孙梦雪, 王雷明, 滕梁红. 胶质瘤中BRAF基因异常的研究进展[J]. 首都医科大学学报, 2020, 41(3): 380-384.

Sun Mengxue, Wang Leiming, Teng Lianghong. Research progress on BRAF gene abnormality in glioma[J]. Journal of Capital Medical University, 2020, 41(3): 380-384.

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