Urinary Molecular Pathology for Patients with Newly Diagnosed Urothelial Bladder Cancer
Ruiyun Zhang, Jingyu Zang, Feng Xie, Yue Zhang, Yiqiu Wang, Ying Jing, Yi Zhang, Zhaoxiong Chen, Akezhouli Shahatiaili, Mei‐Chun Cai, Zhixin Zhao, Pan Du, Shidong Jia, Guanglei Zhuang, Haige Chen
Abstract
PURPOSE: Next-generation sequencing (NGS)-based profiling of both urinary tumor DNA (utDNA) and circulating tumor DNA (ctDNA) shows promise for noninvasive detection and surveillance of urothelial bladder cancer (UBC). However, the analytical performance of these assays remains undefined in the real-world setting. Here, we sought to evaluate the concordance between tumor DNA (tDNA) profiling and utDNA or ctDNA assays using a UBC patient cohort from the intended-use population. MATERIALS AND METHODS: NGS assay was applied for ultra-deep targeted sequencing and somatic alteration identification in tDNA, utDNA and ctDNA. RESULTS: amplification were identified in utDNA. CONCLUSIONS: Urine-based molecular pathology provides a valid and complete genetic profile of bladder cancer, and represents a faithful surrogate for genotyping and monitoring newly diagnosed UBC.