摘要
目的:通过检测端粒酶反转录酶(TERT)启动子在放射性碘难治性甲状腺乳头状癌(RAIR-PTC)中的突变频率,探讨该基因突变对RAIR-PTC的摄碘特征及碘治疗疗效的影响。方法:对2005年1月至2020年6月在江苏省原子医学研究所附属江原医院进行放射性碘治疗的RAIR-PTC[37例,其中男15例,女22例,年龄(49.8±16.1)岁]和碘治疗有效[40例,其中男13例,女27例,年龄(39.8±10.9)岁]PTC患者的TERT启动子突变及B-Raf原癌基因丝/苏氨酸蛋白激酶(BRAF)V600E突变情况进行回顾性研究,分析不同基因突变类型的摄碘特征及碘治疗疗效差异。采用Fisher确切概率法及两独立样本t检验进行数据比较。结果:RAIR-PTC中,TERT启动子突变率为40.54%(15/37),高于碘治疗有效组(0,0/40;P<0.001),均为C228T位点突变,未发现C250T突变;而BRAF V600E突变率(64.86%,24/37)与碘治疗有效组(72.50%,29/40)比较差异无统计学意义(P=0.858)。TERT启动子突变患者年龄更大(t=3.76,P=0.001),远处转移灶不摄碘率更高(P=0.037)。启动靶向治疗者及死亡病例中TERT启动子突变患者分别占2/3和3/4。35例甲状腺球蛋白抗体(TgAb)阴性患者中,11/14的TERT启动子突变者刺激性甲状腺球蛋白(sTg)升高,而无突变组该比例为57.1%(12/21),但差异无统计学意义(P=0.357)。结论:RAIR-PTC患者中TERT启动子突变率增高,临床工作中可将该基因突变作为预测碘难治的指标之一。
Objective To evaluate the influence of telomerase reverse transcriptase(TERT)promoter mutation on radioiodine uptake status of radioactive iodine refractory papillary thyroid cancer(RAIR-PTC)and radioiodine therapy response by analyzing the mutation frequency of TERT promoter in RAIR-PTC.Methods A total of 37 patients with RAIR-PTC(15 males,22 females,age(49.8±16.1)years)and 40 PTC patients with effective radioiodine therapy(13 males,27 females,age(39.8±10.9)years)between January 2005 and June 2020 in JiangYuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine were retrospectively analyzed.TERT promoter mutation and B-Raf proto-oncogene,serine/threonine kinase(BRAF)V600E mutation of patients were observed.The differences across genotype patterns on radioiodine uptake status and therapy response were compared.The Fisher′s exact test and independent-sample t test were used for data analysis.Results The incidence rate of TERT promoter mutation in the RAIR-PTC group was 40.54%(15/37,all C228T),which was significantly higher than that in the effective radioiodine therapy group(0,0/40;P<0.001).No statistically significant difference was found for the mutation rate of BRAFV600E between the RAIR group(64.86%,24/37)and the effective radioiodine therapy group(72.50%,29/40;P=0.858).Patients with TERT promoter mutation were older(t=3.76,P=0.001)and the non-intake rate of radioiodine in distant metastases of those patients was higher(P=0.037).Furthermore,2/3 of patients who received targeted therapies and 3/4 deaths had TERT promoter mutation.Among 35 patients with negative thyroglobulin antibody(TgAb),11/14 of patients with TERT mutation had a rising stimulated thyroglobulin(sTg),while the percentage of the non-TERT mutation group was 57.1%(12/21;P=0.357).Conclusion The TERT promoter mutation rate is significantly increased in RAIR-PTC patients and can serve as a prognostic predictor in RAIR.
作者
王婷婷
蔡刚明
潘懿
郭鹤鸣
李思诚
马麒
杨志学
徐龙江
胡吉
方晨
Wang Tingting;Cai Gangming;Pan Yi;Guo Heming;Li Sicheng;Ma Qi;Yang Zhixue;Xu Longjiang;Hu Ji;Fang Chen(Department of Endocrinology,JiangYuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine,Wuxi 214063,China;Gene Laboratory,JiangYuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine,Wuxi 214063,China;Department of Endocrinology,the Second Affiliated of Soochow University,Suzhou 215002,China;Department of Ultrasound,the Second Affiliated of Soochow University,Suzhou 215002,China;Department of Thyroid and Breast Surgery,the Second Affiliated of Soochow University,Suzhou 215002,China;Department of Pathology,the Second Affiliated of Soochow University,Suzhou 215002,China)
出处
《中华核医学与分子影像杂志》
CAS
CSCD
北大核心
2022年第2期90-95,共6页
Chinese Journal of Nuclear Medicine and Molecular Imaging
基金
江苏省原子医学研究所青年基金(QN202007)。
