Department of Clinical Laboratory, Peking University First Hospital, Beijing, 100034, P. R. China.
Cancer Commun (Lond). 2021 Feb;41(2):91-108. doi: 10.1002/cac2.12129. Epub 2020 Dec 30.
Bladder cancer (BC) is a heterogeneous disease that characterized by genomic instability and a high mutation rate. Heterogeneity in tumor may partially explain the diversity of responses to targeted therapies and the various clinical outcomes. A combination of cytology and cystoscopy is the standard methodology for BC diagnosis, prognosis, and disease surveillance. However, genomics analyses of single tumor-biopsy specimens may underestimate the mutational burden of heterogeneous tumors. Liquid biopsy, as a promising technology, enables analysis of tumor components in the bodily fluids, such as blood and urine, at multiple time points and provides a minimally invasive approach that can track the evolutionary dynamics and monitor tumor heterogeneity. In this review, we describe the multiple faces of BC heterogeneity at the genomic and transcriptional levels and how they affect clinical care and outcomes. We also summarize the outcomes of liquid biopsy in BC, which plays a potential role in revealing tumor heterogeneity. Finally, we discuss the challenges that must be addressed before liquid biopsy can be widely used in clinical treatment.
膀胱癌（BC）是一种具有基因组不稳定性和高突变率特征的异质性疾病。肿瘤的异质性部分可以解释对靶向治疗的反应多样性和各种临床结果的差异。细胞学和膀胱镜检查的结合是 BC 诊断、预后和疾病监测的标准方法。然而，对单个肿瘤活检标本的基因组分析可能会低估异质性肿瘤的突变负担。液体活检作为一种很有前途的技术，可以在多个时间点分析血液和尿液等体液中的肿瘤成分，并提供一种微创方法，可以跟踪肿瘤的进化动态并监测肿瘤异质性。在这篇综述中，我们描述了基因组和转录水平上 BC 异质性的多个方面，以及它们如何影响临床治疗和结果。我们还总结了液体活检在 BC 中的结果，液体活检在揭示肿瘤异质性方面具有潜在作用。最后，我们讨论了在液体活检能够广泛应用于临床治疗之前必须解决的挑战。
