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

Simeon Springer, Maria Del Carmen Rodriguez Pena, Lu Li, Christopher Douville, Yuxuan Wang, Josh Cohen, Diana Taheri, Bahman Afsari, Natalie Silliman, Joy Schaeffer, Janine Ptak, Lisa Dobbyn, Maria Papoli, Isaac Kinde, Bahman Afsari, Aline C. Tregnago, Stephania M. Bezerra, Christopher VandenBussche, Kazutoshi Fujita, Dilek ErtoyIsabela W. Cunha, Lijia Yu, Mark Philip Schoenberg, Trinity J. Bivalacqua, Kathleen G. Dickman, Arthur P. Grollman, Luis A. Diaz, Rachel Karchin, Ralph Hruban, Cristian Tomasetti, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, Georges J Netto

Research output: Contribution to journalArticlepeer-review


Current non-invasive approaches for bladder cancer (BC) detection are suboptimal. We report the development of non-invasive molecular test for BC using DNA recovered from cells shed into urine. This “UroSEEK” test incorporates assays for mutations in 11 genes and copy number changes on 39 chromosome arms. We first evaluated 570 urine samples from patients at risk for BC (microscopic hematuria or dysuria). UroSEEK was positive in 83% of patients that developed BC, but in only 7% of patients who did not develop BC. Combined with cytology, 95% of patients that developed BC were positive. We then evaluated 322 urine samples from patients soon after their BCs had been surgically resected. UroSEEK detected abnormalities in 66% of the urine samples from these patients, sometimes up to 4 years prior to clinical evidence of residual neoplasia, while cytology was positive in only 25% of such urine samples. The advantages of UroSEEK over cytology were particularly evident in low-grade tumors, wherein cytology detected none while UroSEEK detected 67% of 49 cases. These results establish the foundation for a new, non-invasive approach to the detection of BC in patients at risk for initial or recurrent disease.

Original languageEnglish (US)
JournalUnknown Journal
StatePublished - Oct 16 2017

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • Immunology and Microbiology(all)
  • Neuroscience(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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