Application of urinary genomic testing based on DNA methylation, gene mutation, and transcriptomics in the diagnosis of urothelial carcinoma

doi:10.3877/cma.j.issn.1674-3253.2026.03.016

Abstract

Abstract:

Urothelial carcinoma (UC) represents the most common malignant neoplasm of the urinary system. Conventional diagnostic modalities, including radiographic imaging, endoscopic biopsy, and urinary cytology, are limited by radiation exposure, invasive morbidity, and inadequate sensitivity. In recent years, non-invasive urinary genomic assays have rapidly evolved, with DNA methylation, genetic mutations, and transcriptomic signatures emerging as highly promising molecular biomarkers. This systematic review examines the utility of these three classes of genomic biomarkers in UC diagnosis and post-treatment recurrence surveillance, providing a clinical reference framework.

Key words: Urothelial carcinoma, DNA methylation, Gene mutation, Transcriptomics, Urinary biomarkers

Yuxuan Chen, Jianxiong Fang, Jiazheng Cao. Application of urinary genomic testing based on DNA methylation, gene mutation, and transcriptomics in the diagnosis of urothelial carcinoma[J]. Chinese Journal of Endourology(Electronic Edition), 2026, 20(03): 341-345.

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