Comparison of somatic gene mutation between 114 cases with different subtypes of thyroid papillary carcinoma and the TCGA database
10.19485/j.cnki.issn2096-5087.2023.02.002
- Author:
Xingyue CAO
;
Haisheng FANG
;
Xiao LI
;
Meiping SHEN
;
Xiaohong WU
- Publication Type:Journal Article
- Keywords:
papillary thyroid carcinoma;
pathological subtype;
TCGA database;
gene mutation
- From:
Journal of Preventive Medicine
2023;35(2):99-103
- CountryChina
- Language:Chinese
-
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.
- Full text: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.pdf
