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

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• 作者：Morgan L. Cowan ; MD^a ; Simeon Springer ; PhD^b ; ^c ; Doreen Nguyen ; MD^a ; Diana Taheri ; MD^a ; Gunes Guner ; MD^a ; Maria Angelica Mendoza Rodriguez ; MD^a ; Yuxuan Wang ; BS^c ; Isaac Kinde ; MD ; PhD^c ; Maria Del Carmen Rodriguez Pena ; MD^a ; Christopher J. VandenBussche ; MD ; PhD^a ; Mathew T. Olson ; MD ; PhD^a ; Isabela Cunha ; MD ; PhD^d ; Kazutoshi Fujita ; MD ; PhD^e ; Dilek Ertoy ; MD^f ; Kenneth Kinzler ; PhD^b ; ^c ; Trinity Bivalacqua ; MD ; PhD^g ; Nickolas Papadopoulos ; PhD^b ; ^c ; Bert Vogelstein ; MD^b ; ^c ; George J. Netto ; MD^a ; ^g ; ^{gnetto1@jhmi.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Adenocarcinoma ; Telomerase reverse transcriptase ; TERT ; Mutation ; Bladder carcinoma ; Telomerase
• 刊名：Human Pathology
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：53
• 期：Complete
• 页码：8-13
• 全文大小：1226 K

文摘

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.