尿
膀胱癌
人类遗传学
DNA甲基化
医学
甲基化
考试(生物学)
DNA
癌症
肿瘤科
内科学
泌尿科
基因
生物
遗传学
基因表达
古生物学
作者
Heidi D. Pharo,Marine Jeanmougin,Eirill Ager-Wick,Hege Marie Vedeld,Anne Klara Sørbø,Christina Dahl,Louise Katrine Larsen,Hilde Honne,Sara Brandt-Winge,May-Britt Five,Sara Monteiro‐Reis,Rui Henrique,Carmen Jerónimo,Kenneth Steven,Rolf Wahlqvist,Per Guldberg,Guro Elisabeth Lind
标识
DOI:10.1186/s13148-022-01335-2
摘要
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.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%.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.
科研通智能强力驱动
Strongly Powered by AbleSci AI