A simple urine test for bladder cancer diagnosis and treatment

Researchers have discovered that analyzing specific patterns of cell-free DNA (cfDNA) fragmentation in a simple urine sample can effectively diagnose and stage bladder cancer, offering a much-needed alternative to invasive procedures like cystoscopies.

This novel approach, detailed in a new study in The Journal of Molecular Diagnostics, AMP's official journal, could reduce the need for frequent cystoscopies, lower healthcare costs, and improve patient comfort and outcomes.

Bladder cancer remains a major clinical challenge as it is one of the most common and deadliest urological cancers with a high recurrence rate. Yet its diagnosis still relies heavily on invasive and costly procedures like cystoscopy (inserting a thin, tube-like instrument through the urethra) or cytology, a noninvasive test that can identify tumor cells shed in urine but has limited sensitivity.

Investigators of the new study were motivated to find a simpler, more comfortable way to detect and monitor bladder cancer. They analyzed urine samples from 156 patients and 79 matched controls and, using real-time PCR, measured the concentration and integrity (long–short size distribution) of cfDNA fragments from five genes (ACTB, AR, MYC, BCAS1 and STOX1).

Pilar Medina, Ph.D., oversaw the study at the Health Research Institute Hospital La Fe (IIS La Fe) in Valencia, Spain.

“Our most significant finding was that the small fragment of the MYC gene may represent a valuable tool to diagnose bladder cancer, as it exhibited excellent specificity (97%) and predictive value (88%) for identifying muscle-invasive bladder cancer,“ Medina said..

MYC produces a transcription factor crucial for regulating cell growth, proliferation and metabolism.

Additionally, the researchers found that the ratio of large to small fragments of the housekeeping gene ACTB and the small fragment of the AR gene increased with disease severity, suggesting these could be reliable staging biomarkers. The integrity of these genes may be useful to identify bladder cancer relapse.

Lead author Raquel Herranz, M.S., noted: “With growing interest in liquid biopsies and personalized medicine, our study offers a timely and practical alternative to invasive diagnostics. This study is one of the first to comprehensively evaluate urine cfDNA fragmentation and integrity across most bladder cancer stages, bringing us closer to a future in which bladder cancer can be diagnosed and monitored through a simple urine test, improving patient comfort and care.”

Medina concluded, “Our findings show that urine can tell us much more than we thought; it holds the potential to transform how we detect and manage bladder cancer.”

About The Journal of Molecular Diagnostics

The Journal of Molecular Diagnostics, the official publication of the Association for Molecular Pathology, co-owned by the American Society for Investigative Pathology, and published by Elsevier, seeks to publish high-quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine.

The editors welcome review articles that contain: novel discoveries or clinicopathologic correlations, including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods for diagnosis or monitoring of disease or disease predisposition.