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中华腔镜泌尿外科杂志(电子版) ›› 2026, Vol. 20 ›› Issue (03) : 341 -345. doi: 10.3877/cma.j.issn.1674-3253.2026.03.016

综述

基于DNA甲基化、基因突变及转录组的尿液基因组学检测在尿路上皮癌诊断中的应用
陈宇煊1,2, 方建雄2, 曹嘉正1,2,()   
  1. 1524000 湛江,广东医科大学
    2529030 广东,江门市中心医院泌尿外科
  • 收稿日期:2025-10-23 出版日期:2026-06-01
  • 通信作者: 曹嘉正

Application of urinary genomic testing based on DNA methylation, gene mutation, and transcriptomics in the diagnosis of urothelial carcinoma

Yuxuan Chen1,2, Jianxiong Fang2, Jiazheng Cao1,2,()   

  1. 1Guangdong Medical University, Zhanjiang 524000, China
    2Department of Urology, Jiangmen Central Hospital, Guangdong 529030, China
  • Received:2025-10-23 Published:2026-06-01
  • Corresponding author: Jiazheng Cao
引用本文:

陈宇煊, 方建雄, 曹嘉正. 基于DNA甲基化、基因突变及转录组的尿液基因组学检测在尿路上皮癌诊断中的应用[J/OL]. 中华腔镜泌尿外科杂志(电子版), 2026, 20(03): 341-345.

Yuxuan Chen, Jianxiong Fang, Jiazheng Cao. Application of urinary genomic testing based on DNA methylation, gene mutation, and transcriptomics in the diagnosis of urothelial carcinoma[J/OL]. Chinese Journal of Endourology(Electronic Edition), 2026, 20(03): 341-345.

尿路上皮癌(UC)是泌尿系统最常见的恶性肿瘤。传统诊断方法如影像学检查、内镜活检及尿细胞学检测,存在辐射暴露、侵入性损伤及敏感度不足等局限性。近年来,基于尿液基因组学的无创检测技术迅速发展,其中DNA甲基化、基因突变及基因转录组学特征成为最具潜力的分子标志物。本文系统综述了三类基因组学生物标志物在UC诊断及复发监测中的应用,为临床提供参考。

Urothelial carcinoma (UC) represents the most common malignant neoplasm of the urinary system. Conventional diagnostic modalities, including radiographic imaging, endoscopic biopsy, and urinary cytology, are limited by radiation exposure, invasive morbidity, and inadequate sensitivity. In recent years, non-invasive urinary genomic assays have rapidly evolved, with DNA methylation, genetic mutations, and transcriptomic signatures emerging as highly promising molecular biomarkers. This systematic review examines the utility of these three classes of genomic biomarkers in UC diagnosis and post-treatment recurrence surveillance, providing a clinical reference framework.

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