ArticleClinical epigenetics2022
Bladder cancer detection in urine using DNA methylation markers: a technical and prospective preclinical validation.
Article in Clinical epigenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- ctDNA- and cfDNA-based liquid biopsy in bladder cancer and urothelial carcinoma: bibliometric mapping and cross-database coverage analysis, 2008-2025.Frontiers in oncology · 2026Pooled it
- Active Surveillance in Non-Muscle Invasive Bladder Cancer, the Potential Role of Biomarkers: A Systematic Review.Current oncology (Toronto, Ont.) · 2024Pooled it
- Urinary Biomarkers in Urological Oncology: From Biological Origin to Clinical Decision-Making-A Narrative Review.Diagnostics (Basel, Switzerland) · 2026Review
- Plasmonic Nanoarray Biosensors for Non-Invasive Cancer Diagnostics.Biosensors · 2026Review
- Extracellular Alpha-Satellite DNA in Human Plasma as a Candidate Biomarker for Bladder Cancer Detection: Preliminary Evidence Using Digital PCR.International journal of molecular sciences · 2026Article
- Artificial intelligence and multi-omics integration in liquid biopsy for genitourinary cancers: a systematic scoping review.International urology and nephrology · 2026Article
- UrinaryTranslational andrology and urology · 2026Article
- Bladder Cancer Biomarkers: Recent Advances in Early Detection, Treatment Prediction, and Prognosis.Oncology research · 2026Review
- DNA methylation of CA10 regulates the proliferation and metastasis of bladder cancer.Journal of clinical biochemistry and nutrition · 2025Article
- Unleashing the potential of urine DNA methylation detection: Advancements in biomarkers, clinical applications, and emerging technologies.Current urology · 2025Article
- Detection of genome-wide methylation changes in bladder cancer by long-read sequencing of urinary DNA.Clinical epigenetics · 2025Article
- Unlocking the potential of tumor-derived DNA in urine for cancer detection: methodological challenges and opportunities.Molecular oncology · 2025Review
- Review of recent molecular pathology of bladder urothelial carcinoma.Discover oncology · 2025Review
- Epigenetic regulation of bladder cancer in the context of aging.Frontiers in pharmacology · 2025Review
- Epigenetic Biomarkers as a New Diagnostic Tool in Bladder Cancer-From Early Detection to Prognosis.Journal of clinical medicine · 2024Review
- Bladder cancer detection in urine by novel methylation markers.Scientific reports · 2024Article
- Bladder Cancer detection by urinary methylation markers GHSR/MAL: a validation study.World journal of urology · 2024Article
- From Detection to Cure - Emerging Roles for Urinary Tumor DNA (utDNA) in Bladder Cancer.Current oncology reports · 2024Review
- New Perspectives on the Role of Liquid Biopsy in Bladder Cancer: Applicability to Precision Medicine.Cancers · 2024Review
- Association study of the polymorphisms rs2228611 of theMolecular biology research communications · 2024Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe development of accurate urinary biomarkers for non-invasive and cost-effective detection of primary and recurrent bladder tumours is recognized as one of the major clinical needs in bladder cancer diagnostics. The purposes of this study were (1) to validate the results of a previous technical comparison by determining the diagnostic performance of nine methylation markers in urine pellet compared to full void urine, and (2) to validate the diagnostic performance of the optimal marker panel GHSR/MAL from a previous exploratory study in a preclinical setting.
methodsUrine samples of 108 patients with bladder cancer and 100 age- and gender-matched controls were prospectively collected for methylation analysis. Urinary methylation levels of the markers FAM19A4, GHSR, MAL, miR-129, miR-935, PHACTR3, PRDM14, SST and ZIC1 were determined with quantitative methylation-specific PCR in urine pellet. Area under the curves (AUCs) were determined for individual markers and the marker panel GHSR/MAL. The diagnostic performance of the marker panel GHSR/MAL was evaluated in the total study population and in different subgroups of patients with bladder cancer using the Chi-square test. The diagnostic accuracy was assessed by leave-one-out cross-validation.
resultsAll nine urinary methylation markers (FAM19A4, GHSR, MAL, miR-129, miR-935, PHACTR3, PRDM14, SST and ZIC1) showed significantly higher methylation levels in bladder cancer patients than in controls (p < 0.001). Area under the curves (AUCs) of the nine methylation markers tested in urine pellet were similar to AUCs in full void urine of an independent previous cohort. GHSR/MAL reached an AUC of 0.89 (95% confidence interval [CI] 0.84-0.94), at 80% sensitivity and 93% specificity. Sensitivity of GHSR/MAL increased with higher tumour grades, higher tumour stages, in primary vs. recurrent tumours, and in males vs. females.
conclusionsThis technical validation supports the robustness of DNA methylation analysis in urine pellet and full void urine for the non-invasive detection of bladder cancer. Subsequent preclinical validation confirmed the diagnostic potential of GHSR/MAL. These findings underline the diagnostic potential of the marker panel GHSR/MAL for future bladder cancer diagnostics.
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