Detection of TERT promoter mutations in primary adenocarcinoma of the urinary bladder

Morgan Cowan, Simeon Springer, Doreen Nguyen, Diana Taheri, Gunes Guner, Maria Angelica Mendoza Rodriguez, Yuxuan Wang, Isaac Kinde, Maria Del Carmen Rodriguez Pena, Christopher J. Vandenbussche, Matthew T Olson, Isabela Cunha, Kazutoshi Fujita, Dilek Ertoy, Kenneth Kinzler, Trinity Bivalacqua, Nickolas Papadopoulos, Bert Vogelstein, Georges J Netto

Research output: Contribution to journalArticlepeer-review


Summary TERT promoter mutations (TERT-mut) have been detected in 60% to 80% of urothelial carcinomas. A molecular urine-based screening assay for the detection of TERT-mut is currently being pursued by our group and others. A small but significant number of bladder carcinomas are adenocarcinoma. The current study assesses the incidence of TERT-mut in primary adenocarcinomas of urinary bladder. A retrospective search of our institutional pathology records identified 23 cystectomy specimens with a diagnosis of adenocarcinoma (2000-2014). All slides were reviewed by a senior urologic pathologist to confirm tumor type and select a representative formalin-fixed, paraffin-embedded block for mutational analysis. Adequate material for DNA testing was available in 14 cases (7 enteric type and 7 not otherwise specified). TERT-mut sequencing analysis was performed using previously described SafeSeq technique. Overall, 28.5% of primary adenocarcinoma harbored TERT-mut. Interestingly, 57% of nonenteric adenocarcinomas were mutation positive, whereas none of the enteric-type tumors harbored mutations. Similar to urothelial carcinoma, we found a relatively higher rate of TERT-mut among nonenteric-type adenocarcinomas further supporting the potential utility of TERT-mut urine-based screening assay for bladder cancer.

Original languageEnglish (US)
Pages (from-to)8-13
Number of pages6
JournalHuman pathology
StatePublished - Jul 1 2016


  • Adenocarcinoma
  • Bladder carcinoma
  • Mutation
  • TERT
  • Telomerase
  • Telomerase reverse transcriptase

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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