Bladder and kidney cancers require invasive procedures for definitive diagnosis, and bladder cancer requires repeated procedures to monitor for disease recurrence. Given the recent work to identify molecular alterations in liquid biopsies to diagnose and monitor these diseases, a synthesis of the growing body of evidence is merited.
To review current data on cell-free DNA (cfDNA) and circulating tumor DNA (ctDNA) and to synthesize their roles in the diagnosis, monitoring, and prognostication of bladder and kidney cancer.
A literature review was conducted through August 15, 2020 including prospective and retrospective studies. Keywords included "cell-free DNA", "circulating tumor DNA", "kidney cancer", "renal cell carcinoma", "bladder cancer", "upper tract urothelial carcinoma", and "urothelial carcinoma".
Urine tumor DNA (utDNA) has sensitivity of 91% and specificity of 96% for detecting bladder cancer, outperforming cystoscopy and cytology. Increased utDNA and ctDNA are associated with progression from non-muscle-invasive to muscle-invasive disease. In patients undergoing cystectomy, ctDNA detection is associated with worse overall survival and disease recurrence, and with persistent tumor on surgical pathology in those who received neoadjuvant chemotherapy. cfDNA is significantly higher in patients with kidney cancer than in healthy controls or in those with benign lesions, and detectable ctDNA and increased cfDNA are associated with decreased survival.
Combined data from small studies provide evidence that cfDNA and ctDNA may have the ability to detect, monitor, and prognosticate in patients with bladder, upper tract urothelial, and kidney cancers.
In this review, we looked at the work that has been published so far on cell-free and circulating tumor DNA in bladder and kidney cancers. We found that while many of the studies were small, there is evidence that cell-free tumor DNA can emerge as a tool for the diagnosis and monitoring of treatment response for patients with these cancers.
European urology oncology. 2021 May 08 [Epub ahead of print]
Elizabeth A Green, Roger Li, Laurence Albiges, Toni K Choueiri, Matthew Freedman, Sumanta Pal, Lars Dyrskjøt, Ashish M Kamat
Department of Genitourinary Oncology, H. Lee Moffitt Cancer Center, Tampa, FL, USA., Department of Genitourinary Oncology, H. Lee Moffitt Cancer Center, Tampa, FL, USA; Department of Immunology, H. Lee Moffitt Cancer Center, Tampa, FL, USA. Electronic address: ., Department of Medical Oncology, Gustave Roussy Cancer Campus, Villejuif, France., Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA., Medical Oncology and Experimental Therapeutics, City of Hope Comprehensive Cancer Center Duarte, Duarte, CA, USA., Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark., Department of Urology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.