Garofoli Marianna, Maiorano Brigida Anna, Bruno Giuseppina, Giordano Guido, Falagario Ugo Giovanni, Necchi Andrea, Carrieri Giuseppe, Landriscina Matteo, Conteduca Vincenza
Unit of Medical Oncology and Biomolecular Therapy and CREATE Center for Research and Innovation Medicine, Department of Medical and Surgical Sciences, University of Foggia, Policlinico Riuniti, Foggia, Italy.
Department of Medical Oncology, IRCCS San Raffaele Hospital, Milan, Italy.
Eur Urol Oncol. 2025 Jun;8(3):805-817. doi: 10.1016/j.euo.2024.11.008. Epub 2024 Dec 2.
Circulating tumor DNA (ctDNA) testing provides valuable prognostic and predictive information for guiding therapeutic choices and monitoring disease progression and drug resistance for urological tumors. Our review focuses on emerging opportunities for ctDNA analysis in urological tumors and the development of potential circulating biomarkers within a multidisciplinary framework to improve personalized treatment.
A nonsystematic literature review was conducted in the PubMed and MEDLINE databases. Prospective and retrospective peer-reviewed studies, review articles, and research abstracts on the use of ctDNA for urological tumors were included.
Several studies have demonstrated that ctDNA analysis is a promising tool that can help clinicians in the diagnosis and clinical management of urological tumors. In prostate and urothelial cancers, the ctDNA fraction increases proportionally from localized to metastatic disease, indicating a higher tumor burden and more aggressive behavior. Thus, ctDNA seems to be a useful tool for improving prognostic risk stratification and treatment selection. Data on the use of liquid biopsy in renal cell carcinoma are still limited, and assessment of prognostic and predictive biomarkers is a critical unmet need.
ctDNA analysis promises to revolutionize the management of urological tumors in different disease settings. Integration of ctDNA testing in routine clinical practice will require a multidisciplinary approach that involve patients, clinicians, and molecular biologists.
We reviewed how testing for tumor DNA in blood (circulating tumor DNA, ctDNA) is used in urological cancers. A great deal of evidence supports the usefulness of this noninvasive test. However, further research via a multidisciplinary approach is needed before ctDNA testing becomes part of routine patient care.
循环肿瘤DNA（ctDNA）检测可为泌尿外科肿瘤的治疗选择、疾病进展监测及耐药性监测提供有价值的预后和预测信息。我们的综述聚焦于泌尿外科肿瘤中ctDNA分析的新机遇，以及在多学科框架内开发潜在的循环生物标志物以改善个性化治疗。
在PubMed和MEDLINE数据库中进行了非系统性文献综述。纳入了关于ctDNA用于泌尿外科肿瘤的前瞻性和回顾性同行评审研究、综述文章及研究摘要。
多项研究表明，ctDNA分析是一种有前景的工具，可帮助临床医生对泌尿外科肿瘤进行诊断和临床管理。在前列腺癌和尿路上皮癌中，ctDNA比例从局限性疾病到转移性疾病呈比例增加，表明肿瘤负荷更高且行为更具侵袭性。因此，ctDNA似乎是改善预后风险分层和治疗选择的有用工具。关于液体活检在肾细胞癌中的应用数据仍然有限，对预后和预测生物标志物的评估是一项关键的未满足需求。
ctDNA分析有望彻底改变不同疾病背景下泌尿外科肿瘤的管理。将ctDNA检测整合到常规临床实践中需要患者、临床医生和分子生物学家参与的多学科方法。
我们综述了血液中肿瘤DNA检测（循环肿瘤DNA，ctDNA）在泌尿外科癌症中的应用。大量证据支持这种非侵入性检测的有用性。然而，在ctDNA检测成为常规患者护理的一部分之前，需要通过多学科方法进行进一步研究。
