A Simple Urine Test Could Revolutionize 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 studyopens in new tab/window in The Journal of Molecular Diagnosticsopens in new tab/window, published by Elsevier, 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 current study were motivated to find a simpler, more comfortable way to detect and monitor bladder cancer. They analyzed urine samples from 156 patients with bladder cancer 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).

“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,“ explains lead investigator Pilar Medina, PhD, Haemostasis, Thrombosis, Arteriosclerosis and Vascular Biology Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.

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

Additionally, 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, MS, Haemostasis, Thrombosis, Arteriosclerosis and Vascular Biology Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain, notes, “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.”

Dr. Medina concludes, “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.”

Notes for editors

The article is “Analysis of the Fragmentation and Integrity of Urine Cell-Free DNA as a Diagnostic and Staging Biomarker for Bladder Cancer,” by Raquel Herranz, Julia Oto, Emma Plana, Javier Pérez-Ardavín, Patricia Verger, Manuel Martínez-Sarmiento, César D. Vera-Donoso, and Pilar Medina (https://doi-org.ucc.idm.oclc.org/10.1016/j.jmoldx.2025.08.010opens in new tab/window). The article appears in volume 27, issue 12 (December 2025) of The Journal of Molecular Diagnostics, published by Elsevier.

The article is openly available for 90 days at https://www.jmdjournal.org/article/S1525-1578(25)00222-3/fulltextopens in new tab/window.

Full text of this article and additional information are also available to credentialed journalists upon request; contact Emily Essex at [email protected]opens in new tab/window. Journalists wishing to interview the study authors should contact Pilar Medina, PhD, at [email protected]opens in new tab/window.

This study was supported by the Instituto de Salud Carlos III (ISCIII) research grants PI17/00495, PI20/00075, FI21/00171, PI23/00449, FORT23/00021, and PI24/01607; cofunded by the European Regional Development Fund “A way to make Europe” or cofunded by the European Union; and the Sociedad Española de Trombosis y Hemostasia.

About The Journal of Molecular Diagnostics

The Journal of Molecular Diagnosticsopens in new tab/window, 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. www.jmdjournal.orgopens in new tab/window

엘스비어 소개

엘스비어는 첨단 정보와 의사결정 지원 분야의 글로벌 선도 기업으로 100년 넘게 과학과 헬스케어의 발전을 지원하며 인류 진보에 기여해 왔습니다. 우리는 170개국 이상에서 학술 및 기업 연구 커뮤니티, 의사, 간호사, 미래의 의료 전문가와 교육자들을 지원합니다. 근거에 기반한 신뢰할 수 있는 과학·의학 콘텐츠와 최첨단 AI 기술을 결합해 중요한 통찰과 혁신적인 솔루션을 제공해, 의미있는 성과를 이루도록 돕고 있습니다. 또한 다양성과 지속 가능성을 제품과 기업 문화 전반에 내재화하며, 우리가 속한 커뮤니티와 협력합니다. 엘스비어 재단opens in new tab/window은 전 세계에서 연구와 보건 파트너십을 지원합니다.

엘스비어는 전문가 및 기업 고객에게 정보 기반의 분석과 의사결정 도구를 제공하는 글로벌 기업 RELXopens in new tab/window의 일원입니다. 자세한 내용은 www.elsevier.com에서 확인할 수 있으며, 소셜미디어 @elsevierconnect를 통해 최신 소식을 받아보실 수 있습니다.