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

Comparison of somatic gene mutation between 114 cases with different subtypes of thyroid papillary carcinoma and the TCGA database

目的 比较114例甲状腺乳头状癌(PTC)不同亚型体细胞基因突变与癌症基因组图谱(TCGA)数据库的差异。方法 选择南京医科大学第一附属医院治疗的114例PTC病例,对其甲状腺术后组织采用二代测序技术检测甲状腺癌相关的18个热点基因;通过cBioPortal网站下载TCGA数据库PTC相关资料,比较114例PTC病例体细胞基因突变与TCGA数据库的差异。结果 114例PTC病例中,女性73例,占64.04%,年龄为(39.23±13.18)岁。114例PTC病例BRAF V600E、TERTp、PDGFRA、PTEN和TP53突变率分别为66.67%、3.51%、1.75%、3.51%和4.39%,高于TCGA数据库的48.68%、0.41%、0%、0.41%和0.61%(P<0.05)。在不同亚型中,经典型PTC病例的BRAF V600E、TP53和TSHR突变率分别为80.88%、7.35%和2.94%,滤泡型PTC病例的BRAF V600E、TERTp突变率分别为36.84%和10.53%,均高于TCGA数据库的54.99%、0.57%、0%、13.86%和0%(P<0.05)。按美国甲状腺协会甲状腺癌复发风险分层,经典型中危组PTC病例BRAF V600E、TP53突变率分别为77.14%和8.57%,滤泡型低危组PTC的BRAF V600E突变率为27.27%,中危组的TERTp突变率为33.33%,均高于TCGA数据库的55.10%、0%、3.28%和0%(P<0.05)。结论 纳入比较分析的114例PTC病例体细胞基因突变类型和突变率与TCGA数据库存在明显差异。

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 c BioPortal 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.