Department of Genitourinary Oncology, H. Lee Moffitt Cancer Center, Tampa, FL, USA.
Department of Urology, Northwestern University, Chicago, IL, USA.
Nat Rev Urol. 2023 Jul;20(7):406-419. doi: 10.1038/s41585-023-00725-2. Epub 2023 Mar 28.
Precision medicine has transformed the way urothelial carcinoma is managed. However, current practices are limited by the availability of tissue samples for genomic profiling and the spatial and temporal molecular heterogeneity observed in many studies. Among rapidly advancing genomic sequencing technologies, non-invasive liquid biopsy has emerged as a promising diagnostic tool to reproduce tumour genomics, and has shown potential to be integrated in several aspects of clinical care. In urothelial carcinoma, liquid biopsies such as plasma circulating tumour DNA (ctDNA) and urinary tumour DNA (utDNA) have been investigated as a surrogates for tumour biopsies and might bridge many shortfalls currently faced by clinicians. Both ctDNA and utDNA seem really promising in urothelial carcinoma diagnosis, staging and prognosis, response to therapy monitoring, detection of minimal residual disease and surveillance. The use of liquid biopsies in patients with urothelial carcinoma could further advance precision medicine in this population, facilitating personalized patient monitoring through non-invasive assays.
精准医学改变了尿路上皮癌的治疗方式。然而,目前的实践受到组织样本进行基因组分析的可用性以及许多研究中观察到的空间和时间分子异质性的限制。在快速发展的基因组测序技术中,非侵入性液体活检已成为一种有前途的诊断工具,可以复制肿瘤基因组,并有可能整合到临床护理的多个方面。在尿路上皮癌中,已将液体活检(如血浆循环肿瘤 DNA(ctDNA)和尿液肿瘤 DNA(utDNA))作为肿瘤活检的替代物进行了研究,可能可以弥补目前临床医生面临的许多不足。ctDNA 和 utDNA 在尿路上皮癌的诊断、分期和预后、对治疗监测的反应、微小残留疾病的检测和监测方面似乎都很有前景。在尿路上皮癌患者中使用液体活检可以进一步推动该人群的精准医学,通过非侵入性检测实现个性化的患者监测。