(HealthDay News) – A new genomic urine test can predict bladder cancer as many as 12 years before clinical signs and symptoms emerge, according to a study presented at the annual meeting of the American Urological Association, held from April 28 to May 1 in Chicago.
Yair Lotan, MD, from the UT Southwestern Medical Center in Dallas, and colleagues examined the effectiveness of screening for preclinical urinary carcinoma (UC) with a modified UroAmp (Convergent Genomics) genomic profiling test using 10 genes. The analysis included a model evaluation case-control design with 96 controls and 70 UC cases, as well as a nested case-control design within the Golestan Cohort Study (50,045 participants followed for up to 12 years).
The researchers found that the UC screening model was trained to a sensitivity of 88% (97% sensitivity for high-grade disease) and a specificity of 94%. In the first validation, the test achieved a sensitivity of 86% in de novo patients (87% for high-grade), a sensitivity of 71% overall (de novo + recurrent tumors), and a specificity of 94%. In the Golestan cohort, the baseline modified UroAmp had a prediction sensitivity of 66% (71% for high-grade) and a specificity of 94%. In contrast, baseline telomerase reverse transcriptase (TERT) mutations predicted 48% of cancers with a specificity of 100%. In modified uroAmp-predicted positives versus modified urinary comprehensive genomic profiling-predicted negatives, cancer-free survival was significantly worse (hazard ratio, 8.5). When limiting the analysis to UC diagnosis within 5 years, UroAmp detected preclinical UC in 90% of future cancers compared with 57% using TERT mutations alone.
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“This is the first study to show comprehensive genomic profiling of somatic mutations can detect preclinical urothelial cancer more than a decade ahead of a natural diagnosis,” Lotan said in a statement. “With further studies, this discovery could improve how we identify, risk stratify and monitor patients at increased risk of developing bladder cancer.”
The study was funded by Convergent Genomics.
