A diagnostic model for non-invasive urothelial cancer early detection based on methylation of urinary tumor DNA.

ABSTRACT:

Background

Diagnostic methods for urothelial cancer (UC) are often invasive, while urinary cytology, a non-invasive alternative, suffers from limited sensitivity. This study aimed to identify differentially methylated markers in urinary tumor DNA and develop a diagnostic method to enhance the sensitivity of non-invasive UC detection.

Methods

Whole-genome bisulfite sequencing and deep methylation sequencing were employed to identify significantly hypermethylated UC-associated genes in clinical samples and public UC datasets. Further screening was conducted using tumor biopsies and urine samples from patients, leading to the selection of three hypermethylated UC markers. A diagnostic model based on these markers was constructed and validated in a cohort (N = 432) comprising pa

SUBMITTER: Wu N 

PROVIDER: S-EPMC12001437 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature