UroMark-a Urinary Biomarker Assay for the Detection of Bladder Cancer

Overview

Journal Clin Epigenetics

Publisher Biomed Central

Specialty Genetics

Date 2017 Feb 7

PMID 28163793

Citations 55

Authors

Andrew Feber

Pawan Dhami

Liqin Dong

Patricia de Winter

Wei Shen Tan

Monica Martinez-Fernandez

Dirk S Paul

Antony Hynes-Allen

Sheida Rezaee

Pratik Gurung

Simon Rodney

Ahmed Mehmood

Felipe Villacampa

Federico de la Rosa

Charles Jameson

Kar Keung Cheng

Maurice P Zeegers

Richard T Bryan

Nicholas D James

Jesus M Paramio

Alex Freeman

Stephan Beck

John D Kelly

Affiliations

Soon will be listed here.

Abstract

Background: Bladder cancer (BC) is one of the most common cancers in the western world and ranks as the most expensive to manage, due to the need for cystoscopic examination. BC shows frequent changes in DNA methylation, and several studies have shown the potential utility of urinary biomarkers by detecting epigenetic alterations in voided urine. The aim of this study is to develop a targeted bisulfite next-generation sequencing assay to diagnose BC from urine with high sensitivity and specificity.

Results: We defined a 150 CpG loci biomarker panel from a cohort of 86 muscle-invasive bladder cancers and 30 normal urothelium. Based on this panel, we developed the UroMark assay, a next-generation bisulphite sequencing assay and analysis pipeline for the detection of bladder cancer from urinary sediment DNA. The 150 loci UroMark assay was validated in an independent cohort ( = 274, non-cancer ( = 167) and bladder cancer ( = 107)) voided urine samples with an AUC of 97%. The UroMark classifier sensitivity of 98%, specificity of 97% and NPV of 97% for the detection of primary BC was compared to non-BC urine.

Conclusions: Epigenetic urinary biomarkers for detection of BC have the potential to revolutionise the management of this disease. In this proof of concept study, we show the development and utility of a novel high-throughput, next-generation sequencing-based biomarker for the detection of BC-specific epigenetic alterations in urine.

Citing Articles

Urinary DNA Methylation Test for Bladder Cancer Diagnosis.

Jeong I, Yun S, Ha H, Kang S, Lee S, Park S JAMA Oncol. 2025; .

PMID: 39883469 PMC: 11783243. DOI: 10.1001/jamaoncol.2024.6160.

Microsatellite Instability in Urine: Breakthrough Method for Bladder Cancer Identification.

Rico-Mendez M, Ayala-Madrigal M, Gonzalez-Mercado A, Gutierrez-Angulo M, Ramirez de Arellano Sanchez J, Beltran-Ontiveros S Biomedicines. 2025; 12(12.

PMID: 39767633 PMC: 11727160. DOI: 10.3390/biomedicines12122726.

Epigenetic Biomarkers as a New Diagnostic Tool in Bladder Cancer-From Early Detection to Prognosis.

Jaszek N, Bogdanowicz A, Siwiec J, Starownik R, Kwasniewski W, Mlak R J Clin Med. 2024; 13(23).

PMID: 39685620 PMC: 11642161. DOI: 10.3390/jcm13237159.

[Urothelial carcinoma of the upper and lower urinary tract-which risk factors make early detection worthwhile?].

Westhoff N, Rieger C, Heidenreich A, Bolenz C, Michel M Urologie. 2024; 64(1):4-13.

PMID: 39589482 DOI: 10.1007/s00120-024-02479-0.

Single center evaluation of sensitivity and specificity of CellDetect assay in early bladder cancer patients.

Gao W, Lou Z Sci Rep. 2024; 14(1):29099.

PMID: 39582079 PMC: 11586397. DOI: 10.1038/s41598-024-80705-7.

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