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中国癌症防治杂志 ›› 2025, Vol. 17 ›› Issue (5): 523-531.doi: 10.3969/j.issn.1674-5671.2025.05.01

• 新技术新方法专栏 • 上一篇    下一篇

膀胱癌液体活检:从单一标志物到多组学整合的诊断、随访与疗效预测

  

  1. 中山大学孙逸仙纪念医院泌尿外科
  • 出版日期:2025-10-25 发布日期:2025-12-03
  • 通讯作者: 黄健 E?mail:huangj8@mail.sysu.edu.cn

Liquid biopsy in bladder cancer: Progression from single biomarkers to multi-omics integration for diagnosis,follow-up,and prediction of therapeutic response

  • Online:2025-10-25 Published:2025-12-03
  • Supported by:
    国家重点研发计划项目(2022YFC2408300);国家自然科学基金项目(82322056)

摘要: 膀胱癌是泌尿系统最常见的恶性肿瘤之一,其中非肌层浸润性膀胱癌(non⁃muscle⁃invasive bladder cancer,NMIBC)因复发风险高需长期密切随访。虽然膀胱镜检查仍是诊断和监测的“金标准”,但侵入性操作可能引发疼痛、感染和血尿等风险,导致患者依从性下降。近年来,液体活检技术快速发展,其基于蛋白质、荧光原位杂交、RNA、DNA突变、拷贝数变异、DNA甲基化及循环肿瘤DNA(circulating tumor DNA, ctDNA)等多种检测方法,在膀胱癌的早期诊断、复发监测和预后评估中展现出良好潜力。但这些生物标志物在临床应用中仍面临诸多挑战,尚未成为常规检测指标。本文系统梳理了膀胱癌液体活检生物标志物的研究进展,并探讨多组学整合策略在提升其临床转化价值方面的潜力。

关键词: 膀胱癌, 液体活检, 生物标志物, 循环肿瘤DNA, DNA甲基化, 多组学整合

Abstract: Bladder cancer is among the most prevalent malignancies affecting the urinary system. Patients diagnosed with non⁃muscle⁃invasive bladder cancer (NMIBC) necessitate prolonged and intensive surveillance due to the disease's  high recurrence rate. Although cystoscopy remains the "gold standard" for diagnosis and monitoring, its invasive nature poses risks of pain, infection and hematuria, which can lead to poor compliance. In recent years,  liquid biopsy technologies have rapidly advanced, with various detection methods based on protein, fluorescence in situ hybridization, RNA, DNA mutation, copy number variation, DNA methylation, circulating tumor DNA (ctDNA) have shown significant promising  in the early diagnosis, recurrence monitoring and prognosis assessment of bladder cancer. Despite these advancements, the clinical implementation of these biomarkers faces substantial challenges and has not yet been adopted as  a routine diagnostic approach. This review systematically summarizes the research progress on liquid biopsy biomarkers for bladder cancer and explores the potential of multi⁃omics integration strategies to enhance the clinical translational value.

Key words: Bladder cancer, Liquid biopsy, Biomarker, Circulating tumor DNA, DNA methylation, Multi?omics integration

中图分类号: 

  • R737.14