Muscle-invasive bladder cancer (MIBC) is a biologically aggressive disease with high recurrence rates, despite advances in surgical and systemic therapies. Circulating tumor DNA (ctDNA), a tumor-specific fraction of cell-free DNA, has emerged as a promising non-invasive biomarker for the real-time assessment of tumor burden, treatment response, and minimal residual disease (MRD). This review explores the biological basis, detection technologies, and clinical utility of ctDNA in MIBC, highlighting its role in preoperative risk stratification, postoperative surveillance, and personalized decision-making for adjuvant and systemic therapies. We critically examine current evidence from pivotal trials and ongoing studies that support ctDNA’s prognostic and predictive value. Additionally, we discuss emerging applications, including ctDNA-guided immunotherapy, integration with imaging and molecular data, and potential to inform bladder-sparing strategies. While ctDNA presents technical and logistical challenges, its incorporation into prospective clinical workflows promises to enhance precision oncology and improve outcomes in patients with MIBC.
肌层浸润性膀胱癌（MIBC）是一种具有高复发率的侵袭性生物学疾病，尽管手术和全身治疗已取得进展。循环肿瘤DNA（ctDNA）作为游离DNA中的肿瘤特异性片段，已成为实时评估肿瘤负荷、治疗反应及微小残留病灶（MRD）的一种有前景的非侵入性生物标志物。本综述探讨了ctDNA在MIBC中的生物学基础、检测技术及临床应用价值，重点阐述其在术前风险分层、术后监测以及辅助治疗和全身治疗的个体化决策中的作用。我们系统评述了关键性试验和正在进行的研究中支持ctDNA预后与预测价值的现有证据。此外，本文还讨论了ctDNA的新兴应用方向，包括ctDNA指导的免疫治疗、与影像学及分子数据的整合应用，以及对保留膀胱治疗策略的潜在指导意义。尽管ctDNA在技术和实际应用中仍面临挑战，将其纳入前瞻性临床工作流程有望提升精准肿瘤治疗水平，改善MIBC患者的预后。
肿瘤(癌症)患者之家