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Published on: January 5, 2017
Noninvasive Detection of Bladder Cancer via Urinary DNA Mutation and Methylation Profiling Using Modified Real-Time
Di Jin1, Hailong Wang2, Chen Jiang1
1Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
The Journal of Molecular Diagnostics : JMD
|July 21, 2026
Summary
A new urinary test, EpiMut-BC, offers a noninvasive approach for bladder cancer detection. This assay shows high accuracy, potentially reducing the need for invasive cystoscopies.
Area of Science:
- Oncology
- Molecular Diagnostics
- Urology
Background:
- Cystoscopy is the standard for bladder cancer diagnosis but is invasive.
- Current urine tests lack sufficient diagnostic accuracy.
- A noninvasive, reliable detection method for bladder cancer is needed.
Purpose of the Study:
- To develop and validate EpiMut-BC, a novel urinary assay for bladder cancer detection.
- To assess the diagnostic performance of EpiMut-BC compared to cystoscopy.
- To evaluate the assay's efficacy in early-stage and superficial bladder cancers.
Main Methods:
- Developed EpiMut-BC, a urinary PCR assay integrating DNA mutation and methylation signatures.
- Utilized pyrophosphorolysis-activated polymerization real-time quantitative PCR with engineered polymerases and blocked primers.
- Conducted a prospective study with 502 participants (302 bladder cancer patients, 200 controls) across two Chinese hospitals, divided into training and validation cohorts.
Main Results:
- EpiMut-BC achieved an overall sensitivity of 85.9%, specificity of 95.8%, and accuracy of 89.8% in 489 valid samples.
- The assay demonstrated consistent specificity across control subgroups.
- Sensitivity for early-stage tumors was 70.3% and for superficial tumors was 81.7%.
Conclusions:
- EpiMut-BC is a highly specific and accurate noninvasive urinary assay for bladder cancer detection.
- The assay enables robust early detection of bladder cancer, even with low tumor DNA levels.
- EpiMut-BC can potentially reduce reliance on invasive cystoscopy and repeated surgical resections.
