An accurate diagnostic approach for urothelial carcinomas based on novel dual methylated DNA markers in small-volume urine

Potential DMRs were selected based on receiver operating characteristic (ROC) analysis performed using the methylation level (mean β value of probes within each window). [...]the β values of the 25 DMRs were analyzed in 440 BCa, 21 BCa-NAT, 324 kidney renal clear cell carcinoma (KIRC), 275 kidney renal papillary cell carcinoma (KIRP) samples from The Cancer Genome Atlas (TCGA) database, and 656 healthy blood samples from the Gene Expression Omnibus (GEO) database. After considering the background noise in healthy blood/NATs and the feasibility of primer design, eight DMRs were selected for further testing in 30 healthy blood samples and 20 normal urine samples using polymerase chain reaction (PCR) and Sanger sequencing. Furthermore, a positive detection of this molecular urine test, followed by more sensitive narrow-band imaging or photodynamic diagnosis, could decrease false-negative rates when compared with white light cystoscopy. [...]this simple and efficient diagnostic test has great clinical application prospects.