FGFR3和TERT基因突变与尿道上皮细胞癌病理分级相关性研究  

A study on the correlation between FGFR 3 and TERT gene mutations and the pathological grade of urethral epithelial carcinoma

作　　者：任莹 何喻 李萍[1] REN Ying;HE Yu;LI Ping(Department of Pathology,the Affiliated People's Hospital of Ningbo University,Ningbo,Zhejiang 315040,China)

机构地区：[1]宁波大学附属人民医院病理科,浙江宁波315040

出　　处：《中华全科医学》2025年第2期219-222,共4页Chinese Journal of General Practice

基　　金：浙江省医药卫生科技计划项目(2023KY1146)。

摘　　要：目的 探讨FGFR3和TERT基因突变与尿道上皮细胞癌病理分级的相关性,为探索该病发病机制提供一定的参考。方法 选取2021年1月—2023年3月在宁波大学附属人民医院泌尿外科门诊就诊和住院治疗的尿路上皮癌患者150例为研究对象,选择15例健康体检者为对照组。提取所有患者尿液中细胞基因组DNA,以Real-time PCR检测其FGFR3和TERT基因多态性,并探讨与其细胞病理诊断分级的关系。结果 实验组标本的FGFR3基因外显子7、10和15 DNA含量均高于对照组(P<0.05);HIT组(T1,T2,T3,T4和Tis)的结果高于LIT组(Ta,P<0.05);实验组内随着细胞恶性程度的升高细胞内FGFR3基因外显子7、10和15 DNA含量逐渐增高;TERT启动子的2个热点突变C228T和C250T在实验组中不同病理学分级的野生型占比随着肿瘤恶性程度的升高逐渐下降:Ta(5/8,62.5%),T1(11/29,37.9%),T2(9/40,22.5%),T3(7/28,25.0%),T4(7/27,25.9%)和Tis(4/18,22.2%);HIT组(T1,T2,T3,T4和Tis)均出现了C228T突变,C250T突变和C228T+C250T双突变。结论 细胞基因组FGFR3基因外显子7、10和15 DNA含量和TERT启动子的C228T和C250T多态性与尿道上皮细胞癌病理分级相关,可作为尿道上皮细胞癌病理分级的生物标志物。Objective To investigate the correlation between FGFR 3 and TERT gene mutations and the pathological grade of urethral epithelial carcinoma,aims to provide some reference for exploring the publication mechanism of the disease.Methods A total of 150 patients with urothelial carcinoma hospitalized in the department of Urology at the Affiliated People's Hospital of Ningbo University from January 2021 to March 2023 were selected as the study subjects.Fifteen healthy subjects were selected as the control group.Genomic DNA was extracted,and FGFR 3 and TERT gene polymorphisms were analyzed by real-time PCR.The relationship between the cytopathological diagnostic grade was explored.Results The DNA content of FGFR 3 exons 7,10,and 15 was higher in the experimental group than the control group(P<0.05).The HIT group(T1,T2,T3,T4,and Tis)showed higher DNA content than the LIT group(Ta,P<0.05).The DNA content of FGFR 3 exons 7,10,and 15 increased gradually with rising tumor malignancy in the experimental group.For the TERT promoter,the proportion of wild type in C228T and C250T polymorphisms decreased as tumor malignancy increased:Ta(5/8,62.5%),T1(11/29,37.9%),T2(9/40,22.5%),T3(7/28,25.0%),T4(7/27,25.9%),and Tis(4/18,22.2%).The HIT group(T1,T2,T3,T4 and Tis)showed C228T mutations,C250T mutations,and C228T+C250T double mutations.Conclusion The DNA content of FGFR 3 exons 7,10,and 15,along with the C228T and C250T polymorphisms of the TERT promoter,correlates with the pathological grade of urothelial carcinoma pathological grade.These markers can be used as biomarkers for assessing pathological grade of urothelial carcinoma.

关 键 词：尿路上皮癌 FGFR3 TERT 基因突变 预后 

分 类 号：R737.1[医药卫生—肿瘤] R730.43[医药卫生—临床医学]