Performance of novel non-invasive urine assay UroSEEK in cohorts of equivocal urine cytology

Maria Del Carmen Rodriguez Pena, Simeon U. Springer, Diana Taheri, Lu Li, Aline C. Tregnago, Marie Lisa Eich, Isam Eldin A. Eltoum, Christopher J. VandenBussche, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, George J. Netto

Research output: Contribution to journalArticle

Abstract

Urine cytology is an essential element of the diagnostic work up of hematuria. A significant proportion of cases continue to be placed in the “atypical” or “suspicious” categories of the Paris system for urine cytology, posing difficulty in patient management. We report on the performance of our recently described urine-based assay “UroSEEK” in cases with equivocal diagnosis in patients who are investigated for bladder cancer. Urine samples were collected from two cohorts. The first consisted of patients who presented with hematuria or lower urinary tract symptoms (early detection cohort) and the second of patients that are in follow-up for prior bladder cancer (surveillance cohort). Urine samples were analyzed for mutations in 11 genes and aneuploidy. In the early detection setting, we found high sensitivity and specificity (96% and 88%, respectively) and a strong negative predictive value of 99%. The assay performance was less robust in the surveillance cohort (sensitivity of 74%, specificity of 72%, and negative predictive value of 53%). UroSEEK demonstrated a notable lead time to cancer diagnosis. Seven cases in the early detection cohort and 71 surveillance cases were detected at least 6 months prior to clinical diagnosis. Our results suggest a potential role for UroSEEK assay in guiding management of patients with atypical urine cytology if confirmed in future prospective trials.

Original languageEnglish (US)
Pages (from-to)423-429
Number of pages7
JournalVirchows Archiv
Volume476
Issue number3
DOIs
StatePublished - Mar 1 2020

Keywords

  • Aneuploidy analysis
  • Atypical urine cytology
  • DNA mutational analysis
  • Non-invasive urine assay
  • Urinary bladder neoplasms
  • UroSEEK

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

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  • Cite this

    Rodriguez Pena, M. D. C., Springer, S. U., Taheri, D., Li, L., Tregnago, A. C., Eich, M. L., Eltoum, I. E. A., VandenBussche, C. J., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., & Netto, G. J. (2020). Performance of novel non-invasive urine assay UroSEEK in cohorts of equivocal urine cytology. Virchows Archiv, 476(3), 423-429. https://doi.org/10.1007/s00428-019-02654-1