摘要
目的探讨膀胱尿路上皮癌(bladder urothelial carcinoma,BUC)中TP53、FGFR3和PIK3CA基因突变情况及其与临床特征及预后的关系。方法采用高通量测序平台NextseqTM CN500 System分析47例BUC中TP53、FGFR3和PIK3CA基因突变情况,并分析TP53、FGFR3和PIK3CA基因突变与各临床参数的关系,采用Kaplan-Meier曲线及Log-rank检验进行生存分析,通过Cox比例风险回归分析法分析影响BUC预后的因素。结果TP53基因的突变频率为42.46%(31/73),FGFR3基因的突变频率为31.51%(23/73),PIK3CA基因突变频率为26.03%(19/73),TP53基因与肌层浸润性膀胱癌(muscle invasive bladder cancer,MIBC)、肿瘤数量、BUC T2b期、高级别BUC、是否复发显著相关(P<0.05),FGFR3基因与非肌层浸润性膀胱癌(non-muscle invasive bladder cancer,NMIBC)、BUC T1期、低级别BUC显著相关(P<0.05)。TP53、FGFR3、PIK3CA基因突变与患者年龄、性别和吸烟史方面无相关性(P>0.05)。TP53基因突变与无进展生存期(progression-free survival,PFS)存在相关性(P<0.05),FGFR3和PIK3CA基因突变未能证明与PFS存在相关性。Cox比例风险模型单因素分析显示:TP53基因突变与PFS预后具有相关性(P<0.05)。结论TP53、FGFR3和PIK3CA基因的差异表达在BUC发生发展中起重要作用,对BUC的预后可能存在预测作用,三者作为潜在的治疗靶点对BUC的靶向治疗可能具有重要的指导意义。
Purpose To investigate the mutations of TP53,FGFR3 and PIK3CA genes and their relationship with the clinical features and prognosis of bladder urothelial carcinoma(BUC).Methods The NextseqTM CN500 System,a high-throughput sequencing platform,was used to analyze TP53,FGFR3 and PIK3CA gene mutations in 47 BUC patients,and to analyze the relationship between TP53,FGFR3 and PIK3CA gene mutations and various clinical parameters.Kaplan-Meier curve and log-rank test were used for survival analysis,and COX proportional risk regression analysis was used to analyze the factors affecting the prognosis of BUC.Results The mutation frequency of the TP53 gene was 42.46%(31/73),FGFR3 was 31.51%(23/73),and PIK3CA was 26.03%(19/73).TP53 gene was significantly correlated with muscle invasive bladder cancer(MIBC),tumor number,BUC T2b stage,high grade BUC,and recurrence(P<0.05).FGFR3 was significantly associated with non-muscle invasive bladder cancer(NMIBC),stage BUC T1,and low-grade BUC(P<0.05).TP53,FGFR3 and PIK3CA gene mutations were not significantly correlated with age,sex and smoking history(P>0.05).TP53 was correlated with progression-free survival(PFS)(P<0.05).Mutations in the FGFR3 and PIK3CA genes have not been shown to be associated with PFS.In univariate analysis of factors influencing postoperative PFS in BUC patients by Cox proportional risk model,positive TP53 gene mutation was found to be correlated with PFS(P<0.05).Conclusion Differential expression of the TP53,FGFR3 and PIK3CA genes plays an important role in the occurrence and development of BUC and may predict the prognosis of BUC.As a potential therapeutic target,targeted therapies for BUC may have important implications.
作者
李小航
李安安
朱宝兴
王新颖
刘杰
刘昕
王志勇
LI Xiao-hang;LI An-an;ZHU Bao-xing;WANG Xin-ying;LIU Jie;LIU Xin;WANG Zhi-yong(Department of Urology,Affiliated Hospital of Chengde Medical University,Chengde 067000,China)
出处
《临床与实验病理学杂志》
CAS
北大核心
2023年第6期668-674,共7页
Chinese Journal of Clinical and Experimental Pathology
