TY - JOUR AU - Ou, Zhenyu AU - Li, Kai AU - Yang, Ting AU - Dai, Ying AU - Chandra, Mohan AU - Ning, Jun AU - Wang, Yongli AU - Xu, Ran AU - Gao, Tangjie AU - Xie, Yu AU - He, Qing AU - Li, Yuanwei AU - Lu, Qin AU - Wang, Long AU - Song, Zhuo PY - 2020 DA - 2020/01/14 TI - Detection of bladder cancer using urinary cell-free DNA and cellular DNA JO - Clinical and Translational Medicine SP - 4 VL - 9 IS - 1 AB - The present study sought to identify a panel of DNA markers for noninvasive diagnosis using cell-free DNA (cfDNA) from urine supernatant or cellular DNA from urine sediments of hematuria patients. A panel of 48 bladder cancer-specific genes was selected. A next-generation sequencing-based assay with a cfDNA barcode-enabled single-molecule test was employed. Mutation profiles of blood, urine, and tumor sample from 16 bladder cancer patients were compared. Next, urinary cellular DNA and cfDNA were prospectively collected from 125 patients (92 bladder cancer cases and 33 controls) and analyzed using the 48-gene panel. The individual gene markers and combinations of markers were validated according to the pathology results. The mean areas under the receiver operating characteristic (ROC) curves (AUCs) obtained with the various modeling approaches were calculated and compared. SN - 2001-1326 UR - https://doi.org/10.1186/s40169-020-0257-2 DO - 10.1186/s40169-020-0257-2 ID - Ou2020 ER -