Next-generation sequencing analysis of genetic profiling and its relationship with clinicopathologic characteristics of thyroid carcinoma:a single-center retrospec-tive cohort study
10.13315/j.cnki.cjcep.2025.01.012
- VernacularTitle:基于高通量测序分析甲状腺癌基因变异和临床病理特征相关性的单中心回顾性队列研究
- Author:
Lingfeng CHEN
1
;
Jie LIN
1
;
Xunbin YU
1
;
Yijuan WU
1
Author Information
1. 福州大学附属省立医院/福建省立医院病理科,福州 350001;福建医科大学省立临床医学院,福州 350001
- Publication Type:Journal Article
- Keywords:
thyroid neoplasm;
papillary thyroid carcinoma;
genetic variation;
next-generation sequencing;
clinico-pathologic characteristics
- From:
Chinese Journal of Clinical and Experimental Pathology
2025;41(1):74-80
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To investigate the relationships between the genetic variations and clinicopathological fea-tures of thyroid carcinoma in a single-center cohort.Methods The correlation between genetic profiling and clinico-pathologic characteristics of thyroid carcinomas detected by next-generation sequencing was analyzed.Results 93.7％of 238 cases of thyroid cancer had Class Ⅰ or Class Ⅱ variations.Compared with TCGA cohort,the single-center of pa-tients with papillary thyroid cancer(PTC)were younger(44.4±12.4 vs 46.8±15.5,P=0.043),and the rate of lymph node metastasis was higher(57.5％vs 49.2％,P=0.046).The frequency of BRAF gene mutation was signifi-cantly higher(82.4％vs 59.7％,P＜0.001),that of RAS gene mutation(2.3％vs 12.9％,P＜0.001)and TERT promoter mutation was lower(1.8％vs 9.4％,P＜0.001).There were no differences in the incidences of RET fusion(5.4％vs 6.8％,P=0.484)and NTRK fusion(4.1％vs 2.1％,P=0.127).Gene mutations were detected in 210 of 221(95.0％)patients with PTC,including BRAF(182/221,82.4％),RET fusion(12/221,5.4％),NTRK fusion(9/221,4.1％),FGFR amplification(6/221,2.7％),CCND1 amplification(6/221,2.7％),FGFR19 am-plification(6/221,2.7％),RAS(5/221,2.3％),PIK3CA(5/221,2.3％),and TERT(4/221,1.8％).NTRK fusion was associated with younger age(P=0.049)and higher T stage(P=0.005),while TERT promoter mutation was associated with older age(P=0.003)and higher T stage(P=0.001).8.6％(19/221)of thyroid papillary car-cinoma had at least two driver gene variants and tended to occur in patients with older age(P=0.001)and higher T tage(P=0.001).Higher mutation allele fraction(MAF)of BRAF was associated with T stage(P＜0.001)and N stage(P=0.017).Conclusion Chinese patients with papillary thyroid carcinomapatients show unique genetic vari-ant characteristics,and the patients with NTRK fusion,TERT promoter mutation,multiple driver gene variations,or high MAF of BRAF show specific clinicopathologic features.
