Telomerase reverse transcriptase (TERT) promoter mutations are rare in urachal cancer

Sebastian Thiem, Thomas Herold, Ulrich Krafft, Felix Bremmer, Yuri Tolkach, Attila M. Szász, Joerg Kriegsmann, Nadine T. Gaisa, Christian Niedworok, Tibor Szarvas, Henning Reis

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9 Citations (Scopus)


High rates of telomerase reverse transcriptase (TERT) promoter mutations have recently been described in urothelial carcinoma (UC). Unlike UC in the bladder, adenocarcinomas account for the majority of urachal cancer (UrC) cases. As data in UrC is unclear, we analyzed TERT promoter mutations in a large cohort of UrC for its differential diagnostic, clinicopathological and prognostic significance. UrC cases from six academic centers were analyzed for c.-146C>T (C250T) and c.-124C>T (C228T) TERT promoter mutations by PCR and Sanger sequencing. Clinicopathological and survival data were collected. The cohort consisted of 15 men (56%) and 12 women (44%) with a median age of 50 years including 23 adenocarcinomas, two squamous cell carcinomas (SCC), one UC and one undifferentiated carcinoma. In one case of (mucinous) urachal adenocarcinoma a C228T mutation was detected (1/23; 4%), like in a case of SCC in addition to one C250T mutation in the UC case. TERT promoter mutations are very rare in urachal adenocarcinomas (unlike in UC) with differential diagnostic implications. Additionally, the low TERT promoter mutation rate in urachal adenocarcinomas is more comparable to colorectal adenocarcinomas than to UC, giving further support to recent genetic findings and therapeutic considerations.

Original languageEnglish
Pages (from-to)597-601
Number of pages5
JournalPathology International
Issue number12
Publication statusPublished - Dec 2017


  • TERT
  • TERT promoter mutation
  • urachal adenocarcinoma
  • urachal cancer
  • urachal carcinoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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    Thiem, S., Herold, T., Krafft, U., Bremmer, F., Tolkach, Y., Szász, A. M., Kriegsmann, J., Gaisa, N. T., Niedworok, C., Szarvas, T., & Reis, H. (2017). Telomerase reverse transcriptase (TERT) promoter mutations are rare in urachal cancer. Pathology International, 67(12), 597-601.