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目的探讨端粒酶逆转录酶(TERT)启动子突变与分化型甲状腺癌(DTC)临床病理特征之间的关系。方法选取2014年10月至2016年1月间甘肃省肿瘤医院头颈外科229例经临床病理确诊为分化型甲状腺癌患者、52例结节性甲状腺肿患者和31例正常甲状腺组织。采用聚合酶链式反应(PCR)直接测序法对所有组织中TERT启动子突变进行检测。结果 DTC中,TERT C228T/C250T突变率为7.9%(18/229),其中TERT C228T位点突变率为0.9%(2/229),TERT C250T位点突变率为7.0%(16/229),结节性甲状腺肿和正常甲状腺组织均未发生该突变。TERT启动子突变与DTC患者性别、年龄和复发危险度分层均相关,差异均有统计学意义(均P<0.05)。结论检测TERT启动子突变可以帮助区分甲状腺肿瘤良恶性,对患者预后评估有指导意义。
Objective To investigate the relationship between the mutation of telomerase reverse transcriptase (TERT) promoter and clinicopathological features of differentiated thyroid carcinoma (DTC). Methods From October 2014 to January 2016, 229 cases of head and neck surgery in Gansu Provincial Cancer Hospital were diagnosed as differentiated thyroid cancer, 52 cases of nodular goiter and 31 cases of normal thyroid tissue. TERT promoter mutations in all tissues were detected by polymerase chain reaction (PCR) direct sequencing. Results The mutation rate of TERT C228T / C250T in DTC was 7.9% (18/229). The mutation rate of TERT C228T was 0.9% (2/229) and the mutation rate of TERT C250T was 7.0% (16/229) Nodular goiter and normal thyroid tissue did not occur in the mutation. Mutations of TERT promoter correlated with the stratification of sex, age and risk of relapse in DTC patients, the difference was statistically significant (all P <0.05). Conclusion Detection of TERT promoter mutations can help distinguish between benign and malignant thyroid tumors, which has guiding significance for the prognosis of patients.