NON-INVASIVE DETECTION OF UROTHELIAL CANCER THROUGH THE ANALYSIS OF DRIVER GENE MUTATIONS AND ANEUPLOIDY

Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

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Current non-invasive approaches for detection of urothelial cancers are suboptimal.We developed a test to detect urothelial neoplasms using DNA recovered from cells shed into urine.UroSEEK incorporates massive parallel sequencing assays for mutations in 4 Piece RAF Reclining Sectional 11 genes and copy number changes on 39 chromosome arms.In 570 patients at risk for bladder cancer (BC), UroSEEK was positive in 83% of those who developed BC.Combined with cytology, UroSEEK detected 95% of patients who developed BC.

Of 56 patients with Flame Sensor Electrode upper tract urothelial cancer, 75% tested positive by UroSEEK, including 79% of those with non-invasive tumors.UroSEEK detected genetic abnormalities in 68% of urines obtained from BC patients under surveillance who demonstrated clinical evidence of recurrence.The advantages of UroSEEK over cytology were evident in low-grade BCs; UroSEEK detected 67% of cases whereas cytology detected none.These results establish the foundation for a new non-invasive approach for detection of urothelial cancer.

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