Department of Urology, Affiliated Hospital of Chengde Medical University, Chengde, China.
Lab Med. 2023 Mar 7;54(2):142-152. doi: 10.1093/labmed/lmac083.
Bladder cancer is one of the most common malignant tumors in urology in China. The analysis of gene mutation in bladder cancer and its relationship with clinical characteristics and prognosis will provide a basis for accurate treatment of bladder cancer. The aim of this study was to analyze the mutations and functional regions of bladder cancer-related genes based on high-throughput sequencing, and to explore the relationship between mutations and clinicopathological features, as well as its prognosis and clinical implication.
From April 2020 to October 2020, a total of 47 patients with bladder cancer in the Department of Urology, Affiliated Hospital of Chengde Medical College were studied. Gene sequencing was performed using Nextseq CN500 System, a high-throughput sequencing platform. The results of gene detection were described, and the relationship and clinical value of high frequency mutated genes with clinicopathological features and prognosis were systematically analyzed.
A total of 29 mutation genes, 61 exons, and 95 mutation sites were identified in this study. The frequencies of TP53, FGFR3, PIK3CA, ERBB2, MUC4, and KRAS mutation are relatively high, accounting for 59.92 % of the total mutation frequency. The TP53 was significantly associated with muscle invasive bladder cancer, T2 stage, and progression-free survival, while FGFR3 was significantly associated with non-muscle invasive bladder cancer and T1 stage.
High-throughput sequencing technology provides a successful approach for detecting bladder cancer gene mutations. The TP53, FGFR3, PIK3CA, ERBB2, MUC4, and KRAS genes have high mutation frequencies in bladder cancer patients. The TP53, FGFR3 and PIK3CA genes may play a predictive role in the prognosis of bladder cancer, which may hold certain guiding significance for in-depth study of the pathogenesis of bladder cancer and the development of targeted therapies.
膀胱癌是中国泌尿外科最常见的恶性肿瘤之一。分析膀胱癌的基因突变及其与临床特征和预后的关系，可为膀胱癌的精准治疗提供依据。本研究旨在基于高通量测序分析膀胱癌相关基因的突变及功能区域，并探讨突变与临床病理特征的关系及其对预后的影响和临床意义。
选取 2020 年 4 月至 2020 年 10 月在承德医学院附属医院泌尿外科就诊的膀胱癌患者 47 例，采用高通量测序平台 Nextseq CN500 系统进行基因测序，对基因检测结果进行描述，并系统分析高频突变基因与临床病理特征及预后的关系及其临床价值。
本研究共鉴定出 29 个突变基因，61 个外显子，95 个突变位点。TP53、FGFR3、PIK3CA、ERBB2、MUC4、KRAS 突变频率较高，占总突变频率的 59.92%。TP53 与肌层浸润性膀胱癌、T2 期及无进展生存期显著相关，而 FGFR3 与非肌层浸润性膀胱癌及 T1 期显著相关。
高通量测序技术为检测膀胱癌基因突变更新的方法。TP53、FGFR3、PIK3CA、ERBB2、MUC4、KRAS 等基因在膀胱癌患者中存在较高的突变频率。TP53、FGFR3 和 PIK3CA 基因可能对膀胱癌的预后有预测作用，对深入研究膀胱癌的发病机制及开发靶向治疗可能具有一定的指导意义。
