BRAF V600E基因突变与甲状腺癌病理生物学特点及其靶向治疗的研究进展  

Research progress of BRAF V600E gene mutation in pathologic features of thyroid carcinoma and its targeted therapy

作　　者：赵海月[1] 张桂珍[1,2] 杨麒巍 宋旸[1,2] 

机构地区：[1]吉林大学第二医院中心实验室,长春130041 [2]吉林大学第二医院骨科研究所,长春130041

出　　处：《中国体视学与图像分析》2017年第2期224-229,共6页Chinese Journal of Stereology and Image Analysis

基　　金：吉林省卫计委项目(20132003);吉林大学白求恩基金项目(2015409);吉林省科技厅项目(20140311066YY;2015032022ZG);吉林省发改委项目(2014G073);吉林省教育厅项目(JJKH20170853KJ)

摘　　要：BRAF基因突变在甲状腺癌发病机制中具有重要意义,由此促进了甲状腺癌分子发病机制领域的研究进展。BRAF基因突变将导致MAPK通路的持续活化,引发细胞异常增殖,进而导致肿瘤的发生发展。BRAF基因最常见的突变为第1799位碱基由胸腺嘧啶错义突变为腺嘌呤(T1799A),导致其翻译的缬氨酸变为谷氨酸,即BRAF V600E基因突变。BRAF V600E基因突变与甲状旁腺浸润、淋巴结转移和复发具有明显的相关性。并且,BRAF V600E基因突变对于指导甲状腺癌的初始治疗方式、控制放射碘治疗的剂量和预后的判断也具有重要的意义。目前,针对该突变的靶向药物也正处于试验阶段。本文将对甲状腺癌领域的BRAF基因突变的最新研究进展综述。BRAF gene mutation in the pathogenesis of thyroid carcinoma is of great significance. This finding has greatly contributed to the research progress in the molecular pathogenesis of thyroid cancer. BRAF gene mutation arouses the continuous activation of the MAPK pathway, resulting in abnormal cell proliferation and tumorigenesis. Single base missense mutation （T1799A） of BRAF gene leads to the translation of valine into glutamic acid, known as BRAF V600E gene mutation. The mutation has significant correlation with parathyroid infiltration, lymph node metastasis and recurrence. Moreover, the BRAF V600E gene mutation is essential for guiding the initial treatment of thyroid cancer and controlling the dose and prognosis of radiation iodine therapy. At present, the drugs targeting to this mutation are in the experimental stage. This paper reviews the latest advances in BRAF gene mutations associated with thyroid cancer.

关 键 词：BRAF基因 甲状腺癌 分子诊断 靶向治疗 

分 类 号：R736.1[医药卫生—肿瘤]