AUTHOR=Hayashi Yujiro , Fujita Kazutoshi , Matsuzaki Kyosuke , Eich Marie-Lisa , Tomiyama Eisuke , Matsushita Makoto , Koh Yoko , Nakano Kosuke , Wang Cong , Ishizuya Yu , Kato Taigo , Hatano Koji , Kawashima Atsunari , Ujike Takeshi , Uemura Motohide , Imamura Ryoichi , Netto George J. , Nonomura Norio TITLE=Clinical Significance of Hotspot Mutation Analysis of Urinary Cell-Free DNA in Urothelial Bladder Cancer JOURNAL=Frontiers in Oncology VOLUME=10 YEAR=2020 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2020.00755 DOI=10.3389/fonc.2020.00755 ISSN=2234-943X ABSTRACT=
Recent studies showed the clinical utility of next-generation sequencing of urinary cell-free DNA (cfDNA) from patients with urothelial bladder cancer (UBC). In this study, we aimed to develop urinary cfDNA analysis by droplet digital PCR (ddPCR) as a high-throughput and rapid assay for UBC detection and prognosis. We analyzed urinary cfDNA of 202 samples from 2 cohorts. Test cohort was designed for investigating clinical utility of urinary cfDNA, and was composed of 74 samples from patients with UBC, and 52 samples of benign hematuria patients. Validation cohort was designed for validation and assessment of clinical utility comparing urinary cfDNA with UroVysion (Abbott, Illinois, USA), and was composed of 40 samples from patients with UBC, and 36 prospectively collected samples from patients under surveillance after surgery for urothelial carcinoma. We performed ddPCR analysis of hotspot gene mutations (