BRAF V600E和TERT启动子突变与甲状腺乳头状癌临床病理特征的关系
<i>BRAF</i> V600E Mutation and <i>TERT</i> Promoter Mutation in Papillary Thyroid Carcinomas and Their Association with Clinicopathological Characteristics
作者：杨钿, 陈昶, 潘南方, 孙林雍, 江小林, 李金男, 唐源, 姜勇
Author：YANG Tian, CHEN Chang, PAN Nan-fang, SUN Lin-yong, JIANG Xiao-lin, LI Jin-nan, TANG Yuan, JIANG Yong
收稿日期：2019-03-20 年卷（期）页码：2019,50(6):919-924
期刊名称：四川大学学报（医学版）
Journal Name：JOURNAL OF SICHUAN UNIVERSITY （MEDICAL SCIENCE EDITION）
关键字：甲状腺乳头状癌, <i>BRAF</i> V600E突变, <i>TERT</i>启动子突变, 临床病理特征
Key words：Papillary thyroid carcinomas, BRAF V600E mutation, TERT promoter mutations, Clinicopathological characteristics
基金项目：
中文摘要
目的 探讨鼠类肉瘤滤过性毒菌致癌同源体B1(BRAF)V600E和端粒酶逆转录酶(TERT)启动子突变与甲状腺乳头状癌(PTC)临床病理特征之间的关系。 方法 采用聚合酶链式反应(PCR)直接测序检测326例PTC患者肿瘤组织的BRAF V600E和TERT启动子的突变情况，并分析其与临床病理特征之间的关系。 结果 BRAFV600E突变率为82.52% (269/326)，TERT启动子突变率为3.37%(11/326)，其中C228T位点突变9例，C250T位点突变2例，BRAF V600E和TERT启动子同时突变者10例(3.07%)。单因素分析结果显示BRAF V600E基因突变与PTC患者年龄及是否肿瘤复发/远处转移有关(P＜0.05)，TERT启动子突变与患者年龄、肿瘤最大径、是否甲状腺腺外侵犯、T分期、AJCC分期及是否肿瘤复发/远处转移有关(P < 0.05)。BRAF V600E和TERT启动子同时突变与患者年龄、肿瘤最大径、是否甲状腺腺外侵犯、T分期及AJCC分期有关(P＜0.05)。 结论 PTC患者肿瘤组织BRAF V600E和TERT启动子同时突变时提示肿瘤侵袭性高。
英文摘要
ObjectiveTo explore the relationships ofBRAFV600E andTERTpromoter mutations with the clinicopathological features in papillary thyroid carcinoma (PTC).MethodsThe mutations ofBRAFV600E andTERTpromoters were examined by PCR-direct sequencing in tumor tissues from 326 PTC patients, while the relationships between the gene mutations and clinicopathological features were analyzed.ResultsBRAFV600E mutation was found in 269/326 (82.52%), andTERTpromoter mutation in 11/326 (3.37%) of PTC patients.In sitemutations ofTERTpromoter, 9 cases were C228T and 2 cases were C250T. Single factor analysis showed thatBRAFV600E mutations were significantly associated with age and recurrence/distant metastasis of tumor (P< 0.05), whileTERTpromoter mutations were significantly associated with age, tumor size, extrathyroidal extension, T stage, AJCC stage and recurrence/distant metastasis of tumor (P< 0.05). coexistence ofBRAFV600E andTERTpromoter mutations (BRAF+/TERT+) were particularly associated with age, tumor size, extrathyroidal extension, T stage and AJCC stage (P< 0.05).ConclusionCoexistence ofBRAFV600E andTERTpromoter mutations in PTC shows more aggressive tumor behavior.
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