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Hematuria is the first and one of the most common symptoms of bladder cancer but is often inconsistent and only incidentally discovered by clinicians in urine test results.
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Urine-Based DNA Test Could Aid Early Bladder Cancer Detection

Simple, noninvasive, accurate, and robust urine test uses aberrantly methylated genes as a biomarker

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Swathi Kodaikal, MSc

Swathi Kodaikal, MSc, holds a master’s degree in biotechnology and has worked in places where actual science and research happen. Blending her love for writing with science, Swathi enjoys demystifying complex research findings for readers from all walks of life. On the days she doesn’t write, she learns and performs Kathak, sings, makes plans to travel, and obsesses over cleanliness.

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Published:Aug 17, 2023
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Urinary bladder cancer is one of the top five leading causes of cancer deaths, especially in men over 80. Hematuria (blood in urine) is the first and one of the most common symptoms of bladder cancer but is often inconsistent and only incidentally discovered by clinicians in urine test results. Therefore, urine tests and cystoscopy—the standard detection techniques—may not detect bladder cancer (BC) early enough to prevent metastasis. 

A study published in The Journal of Molecular Diagnostics highlights a potential diagnostic tool to address this issue. 

Leveraging PENK’s correlation with bladder cancer

Previous studies have established that aberrantly methylated genes are promising markers of BC. Chungnam National University College of Medicine and Genomictree, Inc., researchers studied one such biomarker, mePENK, which together with other methylated biomarkers could help in early cancer detection. 

The researchers conducted two independent studies, a case-control study for the training set and a prospective study for the validation set, to develop a highly sensitive urine-based DNA methylation test (mePENK-LTE/qMSP) that could be adopted for clinical use.

  • The case-control study used voided urine samples from 175 patients with BC and 143 without BC but other benign causes to establish a cut-off value (34.0) for the mePENK-LTE/qMSP test. The test exhibited 86.9 percent sensitivity and 91.6 percent specificity in distinguishing BC from benign hematuria cases.
  • In the prospective study, urine samples of 366 patients with hematuria were examined by cystoscopy and histopathology: 38 were diagnosed with BC. Independently performed mePENK-LTE/qMSP tests on these samples using the 34.0 cut-off value from the training set showed an overall sensitivity of 84.2 percent and specificity of 95.7 percent in detecting BC.

Noninvasive mePENK-LTE/qMSP for a clinical setting

The researchers compared the clinical performance of the mePENK-LTE/qMSP test with multiple biomarker tests and achieved more reliable, if not similar, results. In the future, large-scale clinical trials could aid in adopting the mePENK-LTE/qMSP test as the standard of early BC detection in patients with hematuria. 

Sungwhan An, PhD, CEO and scientific director, Genomictree, Inc., Daejeon, South Korea, said in a recent press release: “The present study showcases a breakthrough in diagnosing bladder cancer through a simple and effective diagnostic test that eliminates the need for unnecessary cystoscopy procedures. The results demonstrate high sensitivity and accuracy in detecting bladder cancer. Using void urine as a sample offers significant advantages, ensuring easy accessibility to diagnostic opportunities for patients. 

“The test has the potential to significantly reduce bladder cancer-related deaths and medical expenses. To implement the test in clinical practice, larger-scale prospective clinical trials are needed, and we are actively pursuing that goal."