Circulating and urinary tumour DNA in urothelial carcinoma - upper tract, lower tract and metastatic disease.

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.

Nature reviews. Urology. 2023 Mar 28 [Epub]

Kyle M Rose, Heather L Huelster, Joshua J Meeks, Bishoy M Faltas, Guru P Sonpavde, Seth P Lerner, Jeffrey S Ross, Philippe E Spiess, G Daniel Grass, Rohit K Jain, Ashish M Kamat, Aram Vosoughi, Liang Wang, Xuefeng Wang, Roger Li

Department of Genitourinary Oncology, H. Lee Moffitt Cancer Center, Tampa, FL, USA., Department of Urology, Northwestern University, Chicago, IL, USA., Department of Hematology/Oncology, Weill-Cornell Medicine, New York, NY, USA., Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA., Department of Urology, Baylor College of Medicine, Houston, TX, USA., Foundation Medicine, Inc, Cambridge, MA, USA., Department of Radiation Oncology, H. Lee Moffitt Cancer Center, Tampa, FL, USA., Department of Urology, MD Anderson Cancer Center, Houston, TX, USA., Department of Anatomic Pathology, H. Lee Moffitt Cancer Center, Tampa, FL, USA., Department of Tumour Biology, H. Lee Moffitt Cancer Center, Tampa, FL, USA., Department of Biostatistics/Bioinformatics, H. Lee Moffitt Cancer Center, Tampa, FL, USA., Department of Genitourinary Oncology, H. Lee Moffitt Cancer Center, Tampa, FL, USA. .