South Korean researchers have developed a new, noninvasive test for early detection of bladder cancer, potentially reducing the need for invasive procedures and cutting healthcare costs. Bladder cancer is prevalent globally, often indicated by blood in urine, but this symptom is not always a definitive sign of the disease, with only a small percentage of cases being confirmed.

Cystoscopy used to diagnose bladder cancer

Several urine-based tests approved by the FDA for potential early detection of bladder cancer have not proven successful for diagnosis. As a result, cystoscopy remains the gold standard for diagnosing bladder cancer, but they are invasive, uncomfortable, and expensive.

Researchers led by Dr. Sungwhan An and Dr. Ju Hyun Shin, have devised a novel urine-based test for detecting bladder cancer in patients with hematuria. This test could lessen the necessity for cystoscopies.

The authors emphasize the importance of early diagnosis for bladder cancer, highlighting its impact on patient survival and healthcare costs. Current methods like cystoscopy and imaging are invasive, inconvenient, and often ineffective in detecting early-stage cancer. They stress the necessity for a more sensitive and precise diagnostic technique for patients with hematuria.

Detecting methylated PENK genes in urine points to bladder cancer

The test looks for a specific epigenetic alteration in cells shed from the bladder lining into urine. Epigenetic changes modify DNA without altering its sequence, influencing gene activity. A common change in cancer is DNA methylation, which can silence tumor suppressor genes. Researchers targeted methylation of the PENK gene, often found in bladder cancer cells. Detecting methylated PENK genes in urine is challenging, especially in early-stage cancers with minimal cell shedding.

A team devised a two-step method called mePENK-LTE/qMSP to address a challenge. First, they use linear target enrichment (LTE) to amplify methylated PENK DNA from urine samples. Then, they employ quantitative methylation-specific PCR (qMSP) to precisely measure the amount of methylated PENK. In a study with 175 bladder cancer patients and 143 controls, the test demonstrated high sensitivity (86.9%) and specificity (91.6%) in detecting bladder cancer. Sensitivity denotes the ability to identify those with the disease, while specificity denotes the ability to identify those without it.