Bellmunt Joaquim, Russell Brian M, Szabados Bernadett, Valderrama Begoña P, Nadal Rosa
Dana-Farber Cancer Institute/Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.
Am Soc Clin Oncol Educ Book. 2025 Jan;45(2):e471912. doi: 10.1200/EDBK-25-471912. Epub 2025 Jan 30.
The growing sophistication of tumor molecular profiling has helped to slowly transition oncologic care toward a more personalized approach in different tumor types, including in bladder cancer. The National Comprehensive Cancer Network recommends that all patients with stage IVA and stage IVB urothelial carcinoma have molecular analysis that integrates at least testing to help facilitate the selection of future therapeutic options. Sequencing of tumor-derived tissue is the mainstay to obtain this genomic testing, but as in other cancers, there has been extensive research into the integration of liquid biopsies in longitudinal management. Liquid biopsies broadly refer to the isolation of both cellular and noncellular tumor components including proteins and nucleic acids such as mRNA and circulating free DNA within a liquid sample. Although protein-based testing and testing of circulating tumor cells are options, the bulk of promising research in bladder cancer is investigating the role of plasma-based circulating tumor DNA (ctDNA). Currently, a universal consensus on optimal preanalytic and analytic approaches has not been fully defined, and the exact role that liquid biopsies should have in screening, diagnosis, prognostication, treatment selection, and monitoring is not yet known. Still, it can be expected that ctDNA testing will be a part of appropriate management of muscle-invasive bladder cancer and metastatic bladder cancer in the near future. In this review, the goal is to provide a practical overview of the current and future role of ctDNA in bladder cancer including ongoing trials.
肿瘤分子谱分析技术日益成熟，已助力肿瘤治疗在不同肿瘤类型中，包括膀胱癌，逐渐向更个性化的治疗方式转变。美国国立综合癌症网络建议，所有IVA期和IVB期尿路上皮癌患者均应进行分子分析，至少包括 检测，以帮助选择未来的治疗方案。肿瘤组织测序是获取此类基因组检测结果的主要手段，但与其他癌症一样，对于液体活检在长期管理中的应用也进行了广泛研究。液体活检广义上指从液体样本中分离细胞和非细胞肿瘤成分，包括蛋白质和核酸，如mRNA和循环游离DNA。虽然基于蛋白质的检测和循环肿瘤细胞检测也是选择之一，但膀胱癌领域大部分有前景的研究都在探究基于血浆的循环肿瘤DNA（ctDNA）的作用。目前，尚未完全明确最佳的分析前和分析方法的普遍共识，液体活检在筛查、诊断、预后、治疗选择和监测中的确切作用也尚不清楚。不过，可以预期在不久的将来，ctDNA检测将成为肌层浸润性膀胱癌和转移性膀胱癌合理管理的一部分。在本综述中，目标是对ctDNA在膀胱癌中的当前和未来作用，包括正在进行的试验，提供一个实用的概述。
