甲状腺乳头状癌BRAFV600E及TERT启动子突变的预后意义

Prognostic Significance of BRAF V600E and TERT Promoter Mutation in Papillary Thyroid Carcinoma

目的探讨BRAFV600E及TERT启动子突变与甲状腺乳头状癌临床病理特征的关系,评估两基因突变对患者的预后的影响。方法应用荧光PCR法检测248例甲状腺乳头状癌(PTC)组织BRAF V600E和TERT启动子(C228T位点和C250T位点)的突变情况,分析其与PTC患者临床病理特征之间的关系。结果 PTC患者中BRAF V600E突变率为78.6%;TERT启动子突变率为7.66%,包括C228T位点突变17例和C250T位点突变2例;TERT启动子突变的19例中有10例同时伴有BRAF V600E突变。BRAF V600E突变与PTC患者性别、年龄、肿瘤大小、肿瘤单侧或双侧累及、肿瘤腺外侵犯、以及淋巴结转移等临床病理特征均无关;TERT启动子突变与PTC患者性别及肿瘤单侧或双侧累及无关,但与患者年龄、肿瘤大小、肿瘤腺外侵犯以及淋巴结转移等临床病理特征均有关;BRAF及TERT同时突变与患者年龄、肿瘤大小、肿瘤腺外侵犯以及淋巴结转移等临床病理特征均有关。结论 BRAF V600E在PTC患者中的突变率较高,对患者预后的评估指导价值不大;TERT启动子在PTC患者中的突变率较低,对PTC患者预后评估具有指导意义。

Objective To investigate the relationship between the mutation of BRAFV600E and TERT promoter and clinicopathological characteristics of papillary thyroid carcinoma,and to evaluate the effect of two gene mutation on the prognosis of patients.Methods The BRAF V600E and TERT promoter mutations in 248 cases of PTC were detected by fluorescent PCR.The association between BRAF V600E and TERT promoter mutations with clinicopathologic characteristics and prognostic significance was analyzed.Results The mutation rate of BRAF V600E was 78.6%in patients with PTC.The mutation rate of TERT promoter was detected in 19 which including C228T and C250T.Of 19 cases,10 with TERT promoter mutations also harbored the BRAF V600E mutation.BRAF V600E mutation was not associated with gender,age,tumor size,bilateral lesions,extrathyroidal extension and lymph node metastasis of patients with PTC.TERT promoter mutation was not associated with gender and bilateral lesions,but associated with age,tumor size,extrathyroidal extension and lymph node metastasis of patients with PTC.The simultaneous TERT promoter and BRAF V600E mutations were associated with age,tumor size,extrathyroidal extension and lymph node metastasis of patients with PTC.Conclusion The mutation rate of BRAF V600E in patients with PTC is higher,and it is of little value for evaluating the prognosis of patients.The mutation rate of TERT promoter in PTC patients is lower,which is of guiding significance for the prognosis evaluation of PTC patients.