Comparison of somatic gene mutation between 114 cases with different subtypes of thyroid papillary carcinoma and the TCGA database
CAO Xingyue1, FANG Haisheng2, LI Xiao2, SHEN Meiping2, WU Xiaohong1
1. Department of Endocrinology, Geriatric Medicine Center, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, Zhejiang 310014, China; 2. The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210000, China
Abstract：Objective To compare the difference in somatic gene mutation of PTC subtypes between 114 patients with papillary thyroid carcinoma (PTC) and The Cancer Genome Atlas (TCGA) database. Methods Totally 114 PTC patients admitted to The First Affiliated Hospital of Nanjing Medical University were recruited. The 18 hotspot genes associated with thyroid cancer were detected in thyroidectomy specimens were using next generation sequencing. PTC data were downloaded from the TCGA database in the cBioPortal website, and the difference in the somatic gene mutation was compared between 114 PTC patients and the TCGA database. Results The 114 PTC patients included 73 women (64.04%) and had a mean age of (39.23±13.18) years. The prevalence of BRAF V600E (66.67% vs. 48.68%), TERTp (3.51% vs. 0.41%), PDGFRA (1.75% vs. 0%), PTEN (3.51% vs. 0.41%) and TP53 gene mutations (4.39% vs. 0.61%) was significantly higher among the 114 PCT patients than in the TCGA database (P<0.05). The prevalence of BRAF V600E (80.88% vs. 54.99%), TP53 (7.35% vs. 0.57%) and TSHR gene mutations (2.94% vs. 0%) was significantly higher in classical PTC(CPTC) patients than in the TCGA database, and the prevalence of BRAF V600E (36.84% vs.13.86%) and TERTp gene mutations (10.53% vs. 0%) was significantly higher in follicular variant PTC (FVPTC) patients than in the TCGA database. According to the American Thyroid Association Risk Stratification of Thyroid Cancer Recurrence, the prevalence of BRAF V600E and TP53 gene mutations was 77.14% and 8.57% among moderate-risk CPTC patients, the prevalence of BRAF V600E gene mutation was 27.27% among low-risk FVPTC patients, and the prevalence of TERTp gene mutation was 33.33% among moderate-risk FVPTC patients, which were all higher than in the TCGA database (55.10%, 0%, 3.28%, and 0%, respectively; P<0.05). Conclusion There are significant differences in the type and rate of somatic gene mutations between 114 PTC patients and the TCGA database.
曹星月, 方海生, 李霄, 沈美萍, 武晓泓. 114例甲状腺乳头状癌亚型体细胞基因突变与TCGA数据库比较分析[J]. 预防医学, 2023, 35(2): 99-103.
CAO Xingyue, FANG Haisheng, LI Xiao, SHEN Meiping, WU Xiaohong. Comparison of somatic gene mutation between 114 cases with different subtypes of thyroid papillary carcinoma and the TCGA database. Preventive Medicine, 2023, 35(2): 99-103.
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