甲状腺乳头状癌BRAF V600E、TERT和H-Ras基因的突变情况及与临床病理特征的关系  

Mutations of BRAF V600E,TERT and H-Ras genes and their correlation with clinicopathological features of papillary thyroid carcinoma

作　　者：周倩 张晓文[2] 孔文韬[2] ZHOU Qian;ZHANG Xiaowen;KONG Wentao(Department of Ultrasound,Nanjing Drum Tower Hospital,Nanjing 210008,China)

机构地区：[1]南京鼓楼医院超声医学科,南京210008 [2]南京鼓楼医院内分泌科,210008

出　　处：《临床肿瘤学杂志》2024年第8期774-778,共5页Chinese Clinical Oncology

摘　　要：目的分析甲状腺乳头状癌(PTC)3种驱动基因BRAF V600E、TERT和H-Ras的突变情况及与临床病理特征的关系。方法收集2020年3月至2020年12月经甲状腺细针抽吸(FNA)诊断为PTC的患者715例,其中308例接受手术治疗。分析手术患者BRAF V600E、TERT、H-Ras 3种基因突变情况与临床病理特征的关联。结果715例患者中,BRAF V600E突变635例(88.8%),TERT基因突变11例(1.5%),H-Ras突变2例(0.3%),BRAF V600E/TERT共突变9例(1.3%),BRAF V600E/H-Ras共突变1例(0.1%),77例无基因突变(10.8%);无3种基因同时突变的患者。308例手术患者中,BRAF V600E突变274例(88.8%),TERT基因突变8例(2.6%),H-Ras突变1例(0.3%);其中BRAF V600E单基因突变267例(86.7%),TERT单基因突变1例(0.3%),H-Ras单基因突变1例(0.3%),BRAF V600E/TERT共突变7例(2.3%),32例无基因突变(10.4%);无BRAF V600E/H-Ras共突变及3种基因同时突变的患者。BRAF V600E基因突变与性别和年龄有关(P<0.05)。结论BRAF V600E基因突变与PTC发生有关,但TERT、H-Ras基因在PTC中突变率低,对PTC预测价值有限。Objective To analyze the mutation status of three driver genes,BRAF V600E,TERT and H-Ras,in papillary thyroid carcinoma(PTC),and their correlation with clinicopathological features.Methods A total of 715 patients diagnosed with PTC by fine needle aspiration(FNA)from March 2020 to December 2020 were included.Clinical data,mutation status of BRAF V600E,TERT and H-Ras,and clinical data of 308 surgical patients were collected to analyze the mutation status of each gene and its correlation with clinicopathological features.Results Among the 715 patients,there were 635 cases of BRAF V600E mutation(88.8%),11 cases of TERT gene mutation(1.5%),2 cases of H-Ras mutation(0.3%),9 cases of BRAF V600E/TERT co-mutation(1.3%),1 case of BRAF V600E/H-Ras co-mutation(0.1%),and 77 cases without gene mutation(10.8%).The simultaneous mutations in the three genes were not observed.Among the 308 surgical patients,274(88.8%)had BRAF V600E mutation,8(2.6%)had TERT gene mutation,and 1(0.3%)had H-Ras mutation;Among them,there were 267 cases of BRAF V600E single gene mutation(86.7%),1 case of TERT single gene mutation(0.3%),1 case of H-Ras single gene mutation(0.3%),7 cases of BRAF V600E/TERT co-mutation(2.3%),and 32 cases without gene mutation(10.4%).BRAF V600E/H-Ras co-mutations and simultaneous mutations in the three genes were not observed.The BRAF V600E gene mutation was related to gender and age(P<0.05).Conclusion BRAF V600E gene mutation is significantly associated with the occurrence of PTC,but the mutation rates of TERT and H-Ras genes are low in PTC,and their predictive value for PTC is limited.

关 键 词：甲状腺乳头状癌 基因突变 BRAF V600E TERT H-RAS 

分 类 号：R736.1[医药卫生—肿瘤]