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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
引用本文:王旭红,彭琛,李乐,秦彦超. 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[J]. 中国肿瘤临床, 2020, 47(11): 557-562. DOI: 10.3969/j.issn.1000-8179.2020.11.358
作者姓名:王旭红  彭琛  李乐  秦彦超
作者单位:山西省肿瘤医院头颈外科一病区(太原市 030001)
基金项目:山西省卫生计生委科研计划项2017070
摘    要:

关 键 词:甲状腺乳头状癌  BRAF  V600E  TERT
收稿时间:2020-03-31

Relationship between BRAF V600E,TERT promoter mutations and the clinicopathological features of papillary thyroid carcinoma
Xuhong Wang,Chen Peng,Le Li,Yanchao Qin. Relationship between BRAF V600E,TERT promoter mutations and the clinicopathological features of papillary thyroid carcinoma[J]. Chinese Journal of Clinical Oncology, 2020, 47(11): 557-562. DOI: 10.3969/j.issn.1000-8179.2020.11.358
Authors:Xuhong Wang  Chen Peng  Le Li  Yanchao Qin
Affiliation:Department of Head and Neck, Shanxi Cancer Hospital, Taiyuan 030001, China
Abstract:  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).  Conclusion  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. 
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