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Updated: Jun 10, 2025

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

Bladder Cancer detection by urinary methylation markers GHSR/MAL: a validation study.

I J Beijert^1,2,3, Y van den Burgt^1,3, A E Hentschel²

¹Department of Pathology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

World Journal of Urology

|October 16, 2024

Summary

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This study validated a urinary methylation marker panel (GHSR/MAL) for bladder cancer detection. The non-invasive test shows promise for clinical use in patients with hematuria.

Area of Science:

Urology
Oncology
Molecular Diagnostics

Background:

Cystoscopy for bladder cancer detection is effective but invasive and costly.
Non-invasive, cost-effective alternatives are needed for early bladder cancer diagnosis.
Urinary methylation markers GHSR and MAL were previously identified as potential biomarkers.

Purpose of the Study:

To validate a urinary methylation marker panel (GHSR/MAL) for bladder cancer detection.
To assess the performance of the GHSR/MAL panel in a cohort of patients with hematuria.
To evaluate the diagnostic accuracy, sensitivity, and specificity of the methylation markers.

Main Methods:

134 patients with hematuria undergoing cystoscopy were enrolled (63 with bladder cancer, 71 with non-malignant findings).

Keywords:

(MeSH): bladder Cancer Biomarker DNA methylation Detection Liquid biopsy Urine Validation

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Last Updated: Jun 10, 2025

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

A Murine Orthotopic Bladder Tumor Model and Tumor Detection System

A Murine Orthotopic Bladder Tumor Model and Tumor Detection System

Published on: January 12, 2017

Magnetic Resonance Imaging Assessment of Carcinogen-induced Murine Bladder Tumors

Magnetic Resonance Imaging Assessment of Carcinogen-induced Murine Bladder Tumors

Published on: March 29, 2019

Urine samples were self-collected at home and analyzed for GHSR and MAL hypermethylation using quantitative methylation-specific PCR.

Diagnostic performance was evaluated using area-under-the-curve (AUC), sensitivity, and specificity.

Main Results:

The GHSR/MAL marker panel achieved an AUC of 0.87, with 79% sensitivity and 80% specificity.
Sensitivity was higher for high-grade bladder tumors (94%) compared to low-grade tumors (60%).
While sensitivity was comparable to previous findings, specificity was significantly lower in this validation cohort.

Conclusions:

The GHSR/MAL methylation marker panel demonstrates robust performance for bladder cancer detection using at-home collected urine samples.
The findings support the diagnostic potential of this non-invasive biomarker panel for clinical application in hematuria patients.
Further validation may refine specificity and optimize its role in bladder cancer screening and diagnosis.