Katsimperis Stamatios, Tzelves Lazaros, Feretzakis Georgios, Bellos Themistoklis, Tsikopoulos Ioannis, Kostakopoulos Nikolaos, Skolarikos Andreas
Second Department of Urology, National and Kapodistrian University of Athens, Sismanogleio Hospital, 15126 Athens, Greece.
School of Science and Technology, Hellenic Open University, 26335 Patras, Greece.
Cancers (Basel). 2025 Jun 8;17(12):1908. doi: 10.3390/cancers17121908.
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.
肌肉浸润性膀胱癌（MIBC）是一种具有高复发率的生物学侵袭性疾病，尽管手术和全身治疗取得了进展。循环肿瘤DNA（ctDNA）是游离DNA的肿瘤特异性部分，已成为一种有前景的非侵入性生物标志物，用于实时评估肿瘤负荷、治疗反应和微小残留病（MRD）。本综述探讨了ctDNA在MIBC中的生物学基础、检测技术和临床应用，强调了其在术前风险分层、术后监测以及辅助和全身治疗的个性化决策中的作用。我们批判性地审视了来自关键试验和正在进行的研究的当前证据，这些证据支持ctDNA的预后和预测价值。此外，我们讨论了新兴应用，包括ctDNA引导的免疫治疗、与成像和分子数据的整合以及为保膀胱策略提供信息的潜力。虽然ctDNA存在技术和后勤方面的挑战，但其纳入前瞻性临床工作流程有望提高精准肿瘤学水平，并改善MIBC患者的治疗结果。
