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

TERT promoter mutations (TERT-mut) have been detected in 60-80% 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 (ACA). 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 ACA (2000-2014). All slides were reviewed by a senior urologic pathologist to confirm tumor type and select a representative formalin-fixed paraffin embedded (FFPE) block for mutational analysis. Adequate material for DNA testing was available in 14 cases [7 enteric type and 7 not otherwise specified (NOS)]. TERT-mut sequencing analysis was performed using previously described SafeSeq technique. Overall, 28.5% of primary adenocarcinoma harbored TERT-mut. Interestingly 57% of non-enteric adenocarcinoma were mutation positive, while none of the enteric-type tumors harbored mutations. Similar to urothelial carcinoma, we found a relatively higher rate of TERT-mut among non-enteric type adenocarcinoma further supporting the potential utility of TERT-mut urine-based screening assay for bladder cancer.

Human pathology. 2016 Mar 10 [Epub ahead of print]

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, Mathew Olson, Isabela Cunha, Kazutoshi Fujita, Dilek Ertoy, Kenneth Kinzler, Trinity Bivalacqua, Nickolas Papadopoulos, Bert Vogelstein, George J Netto

Department of Pathology, Johns Hopkins University, Baltimore, MD 21287., Department of Oncology, Johns Hopkins University, Baltimore, MD 21287; Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD 21231., Department of Pathology, Johns Hopkins University, Baltimore, MD 21287., Department of Pathology, Johns Hopkins University, Baltimore, MD 21287., Department of Pathology, Johns Hopkins University, Baltimore, MD 21287., Department of Pathology, Johns Hopkins University, Baltimore, MD 21287., Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD 21231., Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD 21231., Department of Pathology, Johns Hopkins University, Baltimore, MD 21287., Department of Pathology, Johns Hopkins University, Baltimore, MD 21287., Department of Pathology, Johns Hopkins University, Baltimore, MD 21287., AC Camargo Cancer Centre, Sao Paulo, Brazil., Department of Urology, Osaka University, Osaka, Japan., Department of Pathology, Hacettepe University, Ankara, Turkey., Department of Oncology, Johns Hopkins University, Baltimore, MD 21287; Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD 21231., Department of Urology, Johns Hopkins University, Baltimore, MD 21287., Department of Oncology, Johns Hopkins University, Baltimore, MD 21287; Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD 21231., Department of Oncology, Johns Hopkins University, Baltimore, MD 21287; Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD 21231., Department of Pathology, Johns Hopkins University, Baltimore, MD 21287; Department of Urology, Johns Hopkins University, Baltimore, MD 21287.  

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