Mutations of BRAFV600E,TERT and H-Ras genes and their correlation with clinicopathological features of papillary thyroid carcinoma

ZHOU Qian; ZHANG Xiaowen; KONG Wentao

doi:10.3969/j.issn.1009-0460.2024.08.009

Abstract：Objective To analyze the mutation status of three driver genes,BRAFV600E,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 BRAFV600E,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 BRAFV600E mutation(88.8％),11 cases of TERT gene mutation(1.5％),2 cases of H-Ras mutation(0.3％),9 cases of BRAFV600E/TERT co-mutation(1.3％),1 case of BRAFV600E/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 BRAFV600E mutation,8(2.6％)had TERT gene mutation,and 1(0.3％)had H-Ras mutation;Among them,there were 267 cases of BRAFV600E 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 BRAFV600E/TERT co-mutation(2.3％),and 32 cases without gene mutation(10.4％).BRAFV600E/H-Ras co-mutations and simultaneous mutations in the three genes were not observed.The BRAFV600E gene mutation was related to gender and age(P＜0.05).Conclusion BRAFV600E 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.