BRAF和TERT启动子突变在甲状腺癌中的作用分析  

The Role of BRAF and TERT promoter mutations in thyroid cancer

作　　者：侯小锋[1] 田尤新[1] 刘勤江[1] 薛金才[1] Hou Xiaofeng;Tian Youxin;Liu Qinjiang;Xue Jincai(Gansu Province Tumor Hospital,Lanzhou 730050,China)

机构地区：[1]甘肃省肿瘤医院

出　　处：《甘肃医药》2019年第5期385-388,共4页Gansu Medical Journal

基　　金：兰州市科技计划项目（项目编号：2016-2-63）

摘　　要：目的:研究分析BRAFV600E及端粒酶逆转录酶(TERT)启动子突变与甲状腺乳头状癌的危险因素的相关性及在甲状腺乳头状癌的风险评估中的价值。方法:收集2017年10月至2018年10月在甘肃省肿瘤医院头颈外科就诊的甲状腺乳头状癌(TPC)患者220例,采用聚合酶链反应(PCR)直接测序法检测BRAFV600E及TERT启动子突变,计量资料采用独立样本的t检验和非参数检验,计数资料采用χ^2检验,组间相关性分析采用Spearman等级相关分析。结果:在220例TPC患者中BRAFV600E突变率为70%,其突变状态与肿瘤组织有无腺外浸润存在差异(P=0.03)。TERT启动子突变率为26.8%,其突变状态与腺外浸润、包膜侵犯及中央区、侧颈区淋巴结有无转移之间的差异有统计学意义(P<0.05);BRAFV600E+TERT启动子的联合突变率为20.9%,其突变状态与腺外浸润、包膜侵犯及中央区、侧颈区淋巴结有无转移之间的差异有统计学意义(P<0.05)。结论:BRAFV600E在TPC患者中的突变率较高,对患者预后的评估指导价值不大;TERT启动子在TPC患者中的突变率较低,对TPC患者预后评估具有指导意义,同时出现BRAFV600E及TERT启动子突变可能与患者的不良预后相关,对TPC风险评估有重要价值。Objective:The objective of this study was to analyze the correlation between the mutations of BRAFV600E and telomerase reverse transcriptase(TERT) promoter and TPC risk factors,and their value in the risk assessment of TPC. Methods: This study retrospectively analyzed 220 cases of TPC which were diagnosed at the Department of Head and Neck Surgery in Gansu Province Tumor Hospital from October 2017 to October 2018. The mutations of BRAF V600E and TERT promoter were detected by polymerase chain reaction (PCR) direct sequencing.The independent-samples T-test and nonparametric test were applied in quantitative data,χ^2 test in count data,and Spearman's Rank correlation analysis were adopted to correlation among groups. Results:Among220 patients with TPC,BRAFV600E mutation rates were 70%.BRAF V600E mutation status was significantly correlated with extrathyroidal invasion(P=0.03);TERT mutation rates were26.8%. which was significantly correlated with extrathyroidal invasion and the presence of membrane invasion and lymph node metastasis(P<0.05);BRAF V600E and TERT mutation at the same time rates were 20.9%,which was significantly correlated with extrathyroidal invasion and the presence of membrane invasion and lymph node metastasis(P<0.05).Conclusion: The mutation rate of BRAF V600E in TPC patients is high,which has little guiding value for the prognosis evaluation. The mutation rate of TERT promoter in PTC patients is low,which has guiding significance for the prognosis evaluation of TPC patients. At the same time,BRAFV600E and TERT promoter mutations may be related to the adverse prognosis of patients,and have important value for TPC risk assessment.

关 键 词：甲状腺乳头状癌 基因突变 BRAFV600E TERT 

分 类 号：R736.1[医药卫生—肿瘤]