A RECENT multicentre study has demonstrated that a urinary DNA methylation test offers high accuracy in diagnosing high-grade or invasive bladder cancer. Conducted across 10 sites in the Republic of Korea, the study included 1099 individuals aged 40 years and older who presented with haematuria and underwent cystoscopy within three months. The results indicate that the urinary DNA methylation test has significant potential as a non-invasive diagnostic tool.
The test exhibited a sensitivity of 89.2% and a specificity of 87.8% in detecting high-grade or invasive bladder cancer. These figures surpass the sensitivity of traditional diagnostic methods such as the nuclear matrix protein 22 (NMP22) test and urine cytology. The study also assessed the test’s accuracy for detecting bladder cancer across all stages and grades, where it demonstrated a sensitivity of 78.1% and a specificity of 88.8%.
A crucial aspect of any diagnostic test is its predictive values. The urinary DNA methylation test had a positive predictive value of 61.3% for high-grade or invasive bladder cancer, meaning that a positive test result does not always indicate the presence of cancer. However, its negative predictive value was exceptionally high at 97.6%, suggesting that the test is highly reliable in ruling out bladder cancer when the result is negative.
Bladder cancer diagnosis typically relies on invasive procedures like cystoscopy, which can be uncomfortable and costly for patients. Urinary biomarkers have been explored as a non-invasive alternative, but existing tests, such as urine cytology and the NMP22 test, have limitations in sensitivity, particularly for high-grade or invasive cases. This study’s findings suggest that urinary DNA methylation testing could be a superior alternative, offering a more accurate, patient-friendly diagnostic approach.
While the test’s high specificity and sensitivity make it a promising tool, its positive predictive value indicates that further confirmatory testing would still be necessary following a positive result. Future research could refine the test’s predictive capabilities and explore its integration into routine clinical practice. Ultimately, these findings highlight the potential for urinary DNA methylation testing to improve early detection and diagnosis of bladder cancer, leading to better patient outcomes and more efficient use of healthcare resources.
Katie Wright, EMJ
Reference
Jeong IG et al. Urinary DNA methylation test for bladder cancer diagnosis. JAMA Oncol. Published online January 30, 2025. doi:10.1001/jamaoncol.2024.6160
