<i>BRAF</i> V600E和<i>TERT</i>启动子突变与甲状腺乳头状癌临床病理特征的关系

杨钿; 陈昶; 潘南方; 孙林雍; 江小林; 李金男; 唐源; 姜勇

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

BRAF V600E Mutation and TERT Promoter Mutation in Papillary Thyroid Carcinomas and Their Association with Clinicopathological Characteristics

摘要

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。

Abstract:
Objective To explore the relationships of BRAF V600E and TERT promoter mutations with the clinicopathological features in papillary thyroid carcinoma (PTC).
Methods The mutations of BRAF V600E and TERT promoters 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.
Results BRAF V600E mutation was found in 269/326 (82.52%), and TERT promoter mutation in 11/326 (3.37%) of PTC patients. In site mutations of TERT promoter, 9 cases were C228T and 2 cases were C250T. Single factor analysis showed that BRAF V600E mutations were significantly associated with age and recurrence/distant metastasis of tumor (P < 0.05), while TERT promoter mutations were significantly associated with age, tumor size, extrathyroidal extension, T stage, AJCC stage and recurrence/distant metastasis of tumor (P < 0.05). Coexistence of BRAF V600E and TERT promoter mutations (BRAF⁺/TERT⁺) were particularly associated with age, tumor size, extrathyroidal extension, T stage and AJCC stage (P < 0.05).
Conclusion Coexistence of BRAF V600E and TERT promoter mutations in PTC shows more aggressive tumor behavior.

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