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  

Relationship between BRAF V600E,TERT promoter mutations and the clinicopathological features of papillary thyroid carcinoma

作　　者：王旭红[1] 彭琛 李乐[1] 秦彦超 Xuhong Wang;Chen Peng;Le Li;Yanchao Qin(Department of Head and Neck,Shanxi Cancer Hospital,Taiyuan 030001,China)

机构地区：[1]山西省肿瘤医院头颈外科一病区,太原市030001

出　　处：《中国肿瘤临床》2020年第11期557-562,共6页Chinese Journal of Clinical Oncology

基　　金：山西省卫生计生委科研计划项目(编号:2017070)资助。

摘　　要：目的:探讨端粒酶逆转录酶(telomerase reverse transcriptase,TERT)启动子突变和BRAF V600E突变与甲状腺乳头状癌(papillary thyroid carcinoma,PTC)临床病理因素的关系。方法:对2014年12月至2016年12月山西省肿瘤医院728例PTC患者肿瘤组织提取DNA,检测其BRAF V600E和TERT启动子突变情况,收集患者临床病理资料,进行统计学分析。结果:728例患者中BRAF V600E突变型308例(42.3%)。TERT C228T突变型78例(10.7%),TERT C250T突变型4例(0.5%)。TERT启动子突变与患者发病年龄(P=0.034)、腺外侵犯(P=0.026)、肿瘤直径(P=0.028)、中央区淋巴结转移(P=0.012)、远处转移(P=0.001)、TNM分期(P<0.001)、病理亚型(P=0.003)以及肿瘤复发(P=0.002)显著相关。BRAF V600E突变与PTC患者的腺外侵犯(P=0.001)、肿瘤直径(P<0.001)、桥本甲状腺炎(P<0.001)、远处转移(P=0.010)、TNM分期(P=0.009)和肿瘤复发(P=0.001)显著相关。同时伴有BRAF V600E和TERT启动子突变与发病年龄(P=0.024)、腺外侵犯(P=0.022)、合并桥本甲状腺炎(P=0.005)、中央区淋巴结转移(P=0.018)及更高临床分期(P=0.002)显著相关。结论:BRAF V600E和TERT启动子突变与高侵袭性的临床病理因素相关,BRAF V600E和TERT存在协同作用,对于指导治疗和评估预后具有积极作用。Objective:To explore the relationship between TERT promoter mutations and BRAF V600E as well as their coexistence with the clinicopathological features of papillary thyroid cancer(PTC).Methods:A total of 728 patients enrolled in Shanxi Cancer Hospital from December 2014 to December 2016 with PTC were retrospectively analyzed.We reviewed and analyzed the clinical results,pathology records,ultrasound results,and BRAF V600E and TERT status.Results:BRAF V600E mutations were found in 42.3%(308 of 728)of patients,and TERT C228T and C250T promoter mutations were found in 10.7%(78 of 728)and 0.5%(4 of 728)of patients,respectively.The TERT promoter mutation was significantly associated with old age(P=0.034),extrathyroidal invasion(P=0.026),large tumor size(P=0.028),cervical lymph node metastasis(P=0.012),distant metastasis(P=0.001),advanced disease stages(P<0.001),histological type(P=0.003)and recurrence(P=0.002).The BRAF V600E mutation was significantly associated with extrathyroidal invasion(P=0.001),large tumor size(P<0.001),Hashimoto thyroiditis(P<0.001),distant metastasis(P=0.010),advanced disease stages(P=0.009)and recurrence(P=0.001).The coexistence of BRAF V600E and TERT promoter mutations was particularly associated with high-risk clinicopathological features,such as old age(P=0.024),extrathyroidal invasion(P=0.022),Hashimoto thyroiditis(P=0.005),the cervical lymph node(P=0.018),and advanced disease stages(P=0.002).Conclusions:Our study demonstrates that BRAF V600E and TERT promoter mutations play a significant role in the aggressiveness of PTC,particularly when the two mutations coexist.The results reveal the significant role of these mutations in the treatment and prognosis prediction of PTC.

关 键 词：甲状腺乳头状癌 BRAF V600E TERT 

分 类 号：R736.1[医药卫生—肿瘤]