High prevalence of TERT promoter mutations in primary squamous cell carcinoma of the urinary bladder

Academic Article


  • TERT promoter mutations (TERT-mut) are detectable in the majority of urothelial carcinomas. The detection of TERT-mut in urine is under investigation as a potential urine-based molecular-screening assay for bladder cancer. A small but significant number of bladder carcinomas are pure squamous cell carcinoma. We sought to assess the incidence of TERT-mut in squamous cell carcinoma of the urinary bladder. A retrospective search of the institutional pathology archives yielded 15 cystectomy specimens performed for squamous cell carcinoma (2000-2014). Histologic slides were reviewed by a senior urologic pathologist to confirm the diagnosis and select a representative formalin-fixed paraffin-embedded tissue block for mutational analysis. All cases yielded adequate material for DNA analysis. Sequencing for TERT-mut was performed using previously described SafeSeq technique. We detected TERT-mut in 12/15 (80%) of bladder squamous cell carcinomas. TERT promoter mutations, commonly found in conventional urothelial carcinoma, are also highly prevalent in urinary bladder squamous cell carcinoma suggesting a common tumorigenesis and potential utility as a molecular urine-based-screening assay.
  • Published In

  • Modern Pathology  Journal
  • Digital Object Identifier (doi)

    Author List

  • Cowan M; Springer S; Nguyen D; Taheri D; Guner G; Rodriguez MAM; Wang Y; Kinde I; VandenBussche CJ; Olson MT
  • Start Page

  • 511
  • End Page

  • 515
  • Volume

  • 29
  • Issue

  • 5