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New non-invasive urine test helps detect bladder cancer early
Last reviewed: 02.07.2025
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One of the first signs of bladder cancer can be blood in the urine (hematuria). Researchers have developed and analyzed the results of a simplified urine-based DNA test to improve the accuracy of early bladder cancer detection in patients with hematuria. They report in The Journal of Molecular Diagnostics, published by Elsevier, that this noninvasive test provides more accurate and earlier detection of bladder cancer, potentially reducing the need to refer patients for more invasive cystoscopy.
Lead investigator Songwan Ahn, PhD, of Genomictree, Inc., Daejeon, South Korea, and Promis Diagnostics, Inc., Irvine, California, USA, explains, “Despite recommendations to perform cystoscopy in patients with microscopic and overt hematuria, the diagnostic yield of bladder cancer detection in this group ranges from 2% to 20%, resulting in numerous unnecessary procedures. Furthermore, due to the invasive nature of cystoscopy and low patient compliance, many patients with hematuria, especially microscopic hematuria, are not referred for screening in a timely manner, resulting in missed opportunities for early bladder cancer detection and subsequent diagnosis at later stages, resulting in both physical and economic burden.”
Aberrant DNA methylation has long been recognized as a promising diagnostic biomarker in various types of cancer, including bladder cancer. Therefore, to improve the accuracy of bladder cancer detection by urine cytology, Dr. Ahn and colleagues previously developed a novel molecular diagnostic tool to measure proenkephalin (PENK) methylation levels using a two-step real-time PCR in urine DNA to detect primary bladder cancer in patients with hematuria.
They simplified and optimized the entire process by integrating the previous two-step process into a one-step procedure involving two linear target enrichment (LTE) reactions and quantitative methyl-specific PCR (qMSP), performed in real-time PCR in a closed one-tube system: EarlyTect Bladder Cancer Detection (BCD).
The researchers tested the sensitivity and specificity of EarlyTect BCD, a single biomarker. The results were comparable or better than other multi-bimarker tests. In a retrospective training set (105 patients), the optimal cutoff value for distinguishing bladder cancer from other conditions was determined, yielding a sensitivity of 87.3% and specificity of 95.2%. In a prospective validation set of 210 patients (122 Korean and 88 American), the overall sensitivity for detecting all stages of bladder cancer was 81.0%, with a high negative predictive value of 97.7% for distinguishing patients with hematuria from bladder cancer.
EarlyTect BCD achieved 100% sensitivity in detecting well-differentiated noninvasive papillary carcinoma and higher stage bladder cancer.
Dr. Ahn comments: “There is a rational need to accurately diagnose patients with bladder cancer using non-invasive molecular diagnostic methods, especially those with high-grade non-invasive papillary carcinoma and higher stages that exhibit an increased propensity for disease progression. The non-invasive nature of using a urine sample and the simplified testing procedure offer advantages such as easier access to early diagnostic options, shorter sample turnaround time, and efficient, accurate, and consistent analysis of results with minimized cross-contamination.”
The results of the study suggest that the test could have a significant impact on clinical practice, particularly in the initial diagnosis of patients with hematuria. Fewer than one in five patients with hematuria referred for cystoscopy are diagnosed with bladder cancer. More accurate urine DNA testing could mean that many cystoscopies could be avoided. Patients with a positive urine DNA test could be actively referred to a urologist for cystoscopy, increasing the detection rate of early-stage bladder cancer.
Dr. Ahn concludes, “Given the urgent need for early detection of bladder cancer at an early stage, EarlyTect BCD is a promising solution with minimal complexity, high reliability and, most importantly, ease of use, making it easy to implement in clinical laboratory practice. These new diagnostic approaches have the potential to revolutionize the field of bladder cancer diagnostics, reducing mortality rates from this disease and the costs of treatment associated with the healthcare system.”