Simple noninvasive test may lead to breakthrough in early diagnosis of bladder cancer
In a novel study in The Journal of Molecular Diagnostics, published by Elsevier, investigators report on a promising new diagnostic tool that may pave the way for an important breakthrough in early diagnosis of bladder cancer in patients with blood in their urine (hematuria), reducing the number of potentially unnecessary invasive cystoscopies and alleviating the economic burden of the disease.
Investigators studied a novel biomarker called aberrant PENK methylation (mePENK), which has shown a high clinical correlation with bladder cancer in previous studies. The first of two independent studies focused on developing a highly sensitive methylation test for mePENK using urine DNA and evaluating its effectiveness in diagnosing bladder cancer in patients within the hematuria population. The cutoff value for the mePENK test was initially determined in a case-control study involving 175 bladder cancer patients and 143 non-malignant hematuria patients. The test exhibited a sensitivity of 86.9% and a specificity of 91.6% in distinguishing bladder cancer from non-malignant hematuria cases.
A subsequent independent prospective clinical performance study comprising 366 hematuria patients scheduled for cystoscopy compared the mePENK test results with the cystoscopy findings and histological analysis as the reference standards. The overall sensitivity of the test in detecting 38 cases of bladder cancer at all stages was 84.2%, while the specificity reached 95.7%. Notably, the test demonstrated a sensitivity of 92.3% in detecting high-grade and advanced-stage bladder cancer.