Telomerase reverse transcriptase (TERT) promoter mutations are rare in urachal cancer
Sebastian Thiem
Institute of Pathology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Search for more papers by this authorThomas Herold
Institute of Pathology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Search for more papers by this authorUlrich Krafft
Clinic of Urology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Search for more papers by this authorFelix Bremmer
Institute of Pathology, University of Göttingen, Göttingen, Germany
Search for more papers by this authorYuri Tolkach
Institute of Pathology, University of Bonn, Bonn, Germany
Search for more papers by this authorAttila M. Szász
2nd Department of Pathology, Semmelweis University, Budapest, Hungary
Search for more papers by this authorJoerg Kriegsmann
Center for Histology, Cytology and Molecular Diagnostics Trier, Trier, Germany
Search for more papers by this authorNadine T. Gaisa
Institute of Pathology, RWTH Aachen University, Aachen, Germany
Search for more papers by this authorChristian Niedworok
Clinic of Urology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Search for more papers by this authorTibor Szarvas
Clinic of Urology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Department of Urology, Semmelweis University, Budapest, Hungary
Search for more papers by this authorCorresponding Author
Henning Reis
Institute of Pathology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
corresponding author Correspondence: Henning Reis, MD, Institute of Pathology, University Hospital of Essen, Hufelandstr. 55, 45147 Essen, Germany. Email: [email protected]
Search for more papers by this authorSebastian Thiem
Institute of Pathology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Search for more papers by this authorThomas Herold
Institute of Pathology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Search for more papers by this authorUlrich Krafft
Clinic of Urology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Search for more papers by this authorFelix Bremmer
Institute of Pathology, University of Göttingen, Göttingen, Germany
Search for more papers by this authorYuri Tolkach
Institute of Pathology, University of Bonn, Bonn, Germany
Search for more papers by this authorAttila M. Szász
2nd Department of Pathology, Semmelweis University, Budapest, Hungary
Search for more papers by this authorJoerg Kriegsmann
Center for Histology, Cytology and Molecular Diagnostics Trier, Trier, Germany
Search for more papers by this authorNadine T. Gaisa
Institute of Pathology, RWTH Aachen University, Aachen, Germany
Search for more papers by this authorChristian Niedworok
Clinic of Urology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Search for more papers by this authorTibor Szarvas
Clinic of Urology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
Department of Urology, Semmelweis University, Budapest, Hungary
Search for more papers by this authorCorresponding Author
Henning Reis
Institute of Pathology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany
corresponding author Correspondence: Henning Reis, MD, Institute of Pathology, University Hospital of Essen, Hufelandstr. 55, 45147 Essen, Germany. Email: [email protected]
Search for more papers by this authorAbstract
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.
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