Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder

Maria Del Carmen Rodriguez Pena, Aline C. Tregnago, Marie Lisa Eich, Simeon Springer, Yuxuan Wang, Diana Taheri, Dilek Ertoy, Kazutoshi Fujita, Stephania M. Bezerra, Isabela W. Cunha, Maria Rosaria Raspollini, Lijia Yu, Trinity J. Bivalacqua, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, George J. Netto

Research output: Contribution to journalArticle

Abstract

Our group and others have previously demonstrated the presence of TERT promoter mutations (TERT-mut) in 60–80% of urothelial carcinomas and some of their histologic variants. Five other genes have been frequently implicated in bladder cancer: FGRF3, TP53, PIK3CA, HRAS, and CDKN2A. In the current study, we sought to determine the prevalence of mutations in TERT and these five other genes in de novo papillary urothelial neoplasms of low malignant potential (PUNLMP) of the urinary bladder. A retrospective search of our archives for PUNLMP was performed and 30 de novo cases were identified and included in the study. We found mutations in TERT (TERT-mut) and FGFR3 (FGFR3-mut) to be the most common alterations in the cohort (63 and 60%, respectively). The majority of the TERT-mut-positive tumors (84%) had a g.1295228C > T alteration with the remaining tumors demonstrating g.1295250C > T. Approximately one fourth of tumors had TP53 mutations. These findings support the potential utility of a uniform genetic mutation panel to detect bladder cancers of various subtypes.

Original languageEnglish (US)
Pages (from-to)761-767
Number of pages7
JournalVirchows Archiv
Volume471
Issue number6
DOIs
StatePublished - Dec 1 2017

Keywords

  • Bladder neoplasm
  • Early detection
  • FGRF3
  • PIK3CA
  • PUNLMP
  • TERT
  • TP53

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

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  • Cite this

    Rodriguez Pena, M. D. C., Tregnago, A. C., Eich, M. L., Springer, S., Wang, Y., Taheri, D., Ertoy, D., Fujita, K., Bezerra, S. M., Cunha, I. W., Raspollini, M. R., Yu, L., Bivalacqua, T. J., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., & Netto, G. J. (2017). Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder. Virchows Archiv, 471(6), 761-767. https://doi.org/10.1007/s00428-017-2164-5