ArticleBiomarker research2024
Comparison and combination of mutation and methylation-based urine tests for bladder cancer detection.
Article in Biomarker research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- A stratified urine-based molecular diagnostic and prognostic model for non-muscle-invasive bladder cancer management.BMC cancer · 2026Article
- Urinary Extracellular Vesicles for High-Precision Bladder Cancer Subtyping and Prognosis.Journal of extracellular biology · 2026Article
- Urinary extracellular vesicles for high-precision bladder cancer subtyping and prognosis.medRxiv : the preprint server for health sciences · 2025Article
- Detection of genome-wide methylation changes in bladder cancer by long-read sequencing of urinary DNA.Clinical epigenetics · 2025Article
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Authors and funding
15 authors.
Funding
Abstract
BACKGROUND AND
aimsSeveral non-invasive tests for detecting bladder cancer (BC) are commercially available and are based on detecting small panels of BC-associated mutations and/or methylation changes in urine DNA. However, it is not clear which type of biomarker is best, or if a combination of the two is needed. In this study we address this question by taking a 23-gene mutation panel (GALEAS™ Bladder, GB) and testing if adding a panel of methylation markers improves the sensitivity of BC detection.
methodsTwenty-three methylation markers were assessed in urine DNA by bisulphite conversion, multiplex PCR, and next generation sequencing in 118 randomly selected haematuria patients with pre-existing GB data (56 BCs and 62 non-BCs), split into training and test sets. We also analysed an additional 16 GB false-negative urine DNAs.
resultsThe methylation panel detected bladder cancer in haematuria patients with 69% sensitivity at 96% specificity (test set results, 95% CIs 52-87% and 80-99%, respectively). Corresponding sensitivity and specificity for GB were 92% and 89%. Methylation and mutation markers were highly concordant in urine, with all GB false-negative samples also negative for methylation markers. CONCLUSIONS AND LIMITATIONS: Our data show that, with a comprehensive mutation panel, any gains from adding methylation markers are, at best, marginal. It is likely that low tumour content is the commonest cause of false-negative urine test results. Our study does have a limited sample size and other methylation markers might behave differently to the those studied here.
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