BladMetrix: a Novel Urine DNA Methylation Test with High Accuracy for Detection of Bladder Cancer in Hematuria Patients

Overview

Journal Clin Epigenetics

Publisher Biomed Central

Specialty Genetics

Date 2022 Sep 17

PMID 36115961

Authors

Heidi Dietrichson Pharo

Marine Jeanmougin

Eirill Ager-Wick

Hege Marie Vedeld

Anne Klara Sorbo

Christina Dahl

Louise Katrine Larsen

Hilde Honne

Sara Brandt-Winge

May-Britt Five

Sara Monteiro-Reis

Rui Henrique

Carmen Jeronimo

Kenneth Steven

Rolf Wahlqvist

Per Guldberg

Guro Elisabeth Lind

Affiliations

Soon will be listed here.

Abstract

Background: Cystoscopy is the gold standard for bladder cancer detection, but is costly, invasive and has imperfect diagnostic accuracy. We aimed to identify novel and accurate DNA methylation biomarkers for non-invasive detection of bladder cancer in urine, with the potential to reduce the number of cystoscopies among hematuria patients.

Results: Biomarker candidates (n = 32) were identified from methylome sequencing of urological cancer cell lines (n = 16) and subjected to targeted methylation analysis in tissue samples (n = 60). The most promising biomarkers (n = 8) were combined into a panel named BladMetrix. The performance of BladMetrix in urine was assessed in a discovery series (n = 112), consisting of bladder cancer patients, patients with other urological cancers and healthy individuals, resulting in 95.7% sensitivity and 94.7% specificity. BladMetrix was furthermore evaluated in an independent prospective and blinded series of urine from patients with gross hematuria (n = 273), achieving 92.1% sensitivity, 93.3% specificity and a negative predictive value of 98.1%, with the potential to reduce the number of cystoscopies by 56.4%.

Conclusions: We here present BladMetrix, a novel DNA methylation urine test for non-invasive detection of bladder cancer, with high accuracy across tumor grades and stages, and the ability to spare a significant number of cystoscopies among patients with gross hematuria.

Citing Articles

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