中国患者甲状腺乳头状癌中的BRAF V600E和端粒酶逆转录酶启动子突变
BRAF V600E and TERT Promoter Mutations in Papillary Thyroid Carcinoma in Chinese Patients.
作者信息
Sun Jian, Zhang Jing, Lu Junliang, Gao Jie, Ren Xinyu, Teng Lianghong, Duan Huanli, Lin Yansong, Li Xiaoyi, Zhang Bo, Liang Zhiyong
机构信息
Department of Pathology, Chinese Academy of Medical Sciences and Peking Union Medical College Hospital, Beijing, People's Republic of China.
Department of Pathology, Xuanwu Hospital, Capital Medical University, Beijing, People's Republic of China.
出版信息
PLoS One. 2016 Apr 11;11(4):e0153319. doi: 10.1371/journal.pone.0153319. eCollection 2016.
BACKGROUND
The BRAF V600E and telomerase reverse transcriptase (TERT) promoter mutations have been reported in papillary thyroid carcinoma (PTC). The aim of this retrospective cross-sectional study was to add further information regarding the prevalence of the BRAF V600E and TERT promoter mutations in Chinese PTC and their clinicopathological associations.
METHODS
We detected the BRAF V600E mutation and TERT promoter mutations in 455 Chinese PTC patients and analyzed the association of these mutations with several clinicopathological features.
RESULTS
The BRAF V600E mutation was detected in 343 (75.4%) of 455 cases and was significantly associated with older age (p<0.001) and conventional subtype (p = 0.003). TERT promoter mutations were detected in 19 (4.4%) of 434 PTCs and were associated with older age (p<0.001), larger tumor size (p = 0.024), and advanced TNM stage(p<0.001). Of the 19 patients that were positive for TERT promoter mutations, 18 (94.7%) also harbored the BRAF V600E mutation.
CONCLUSION
We determined the prevalence and clinicopathological associations of BRAF V600E and TERT promoter mutations in Chinese PTC patients. TERT promoter mutations but not the BRAF V600E mutation were associated with more advanced TNM stage upon diagnosis.
背景
在甲状腺乳头状癌（PTC）中已报道存在BRAF V600E和端粒酶逆转录酶（TERT）启动子突变。这项回顾性横断面研究的目的是进一步提供有关中国PTC中BRAF V600E和TERT启动子突变的患病率及其临床病理相关性的信息。
方法
我们检测了455例中国PTC患者的BRAF V600E突变和TERT启动子突变，并分析了这些突变与几种临床病理特征的相关性。
结果
在455例病例中的343例（75.4%）检测到BRAF V600E突变，且其与年龄较大（p<0.001）和经典亚型（p = 0.003）显著相关。在434例PTC中的19例（4.4%）检测到TERT启动子突变，其与年龄较大（p<0.001）、肿瘤较大（p = 0.024）和TNM分期较晚（p<0.001）相关。在19例TERT启动子突变阳性的患者中，18例（94.7%）也携带BRAF V600E突变。
结论
我们确定了中国PTC患者中BRAF V600E和TERT启动子突变的患病率及其临床病理相关性。TERT启动子突变而非BRAF V600E突变与诊断时更晚的TNM分期相关。
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