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

AI Article Synopsis

  • Current non-invasive detection methods for urothelial cancers are lacking, prompting the development of UroSEEK, a urine-based test utilizing DNA from shed cells.
  • UroSEEK successfully identified 83% of bladder cancer cases in at-risk patients and, when combined with cytology, reached a detection rate of 95%.
  • Notably, UroSEEK outperformed traditional cytology, particularly in low-grade tumors, where it identified 67% of cases compared to none by cytology, paving the way for improved cancer detection methods.

Article Abstract

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 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 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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860864PMC
http://dx.doi.org/10.7554/eLife.32143DOI Listing

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