TERT C228T mutation in non-malignant bladder urothelium is associated with intravesical recurrence for patients with non-muscle invasive bladder cancer.

Molecular Oncology
Yujiro HayashiNorio Nonomura

Abstract

Telomerase reverse transcriptase (TERT) promoter mutations are frequently found in tumors or urine from patients with urothelial carcinoma (UC). TERT promoter mutations are also detected in urine from patients with no evidence of cancer but are associated with subsequent UC development. Mutations in the TERT promoter are thought to be present in nonmalignant urothelium (NMU) during early stages of tumor formation prior to pathological change, but this has not been proven directly. In this proof-of-concept study, we investigated the clinical utility of TERT promoter mutation analysis in NMU of patients with non-muscle-invasive bladder cancer (NMIBC). This single-institute study included 53 primary tumors and 428 systematic bladder biopsy specimens from 54 patients with NMIBC. All patients underwent systematic random biopsy and transurethral resection of the bladder tumor. Genomic DNA was analyzed for TERT C228T and C250T mutations using droplet digital PCR (ddPCR). The association between TERT promoter mutation of NMU and bladder recurrence was examined by the Kaplan-Meier method and Cox proportional hazards model. Of the 54 patients, 16 (29.6%) had a TERT C228T mutation and three (5.6%) had a TERT C250T mutation in NMU. Of 428 ...Continue Reading

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Citations

Aug 28, 2020·International Journal of Molecular Sciences·Takuji HayashiNorio Nonomura
Feb 11, 2021·Genes·Veronika WeyererJohannes Giedl
Apr 16, 2021·International Journal of Urology : Official Journal of the Japanese Urological Association·Yujiro HayashiNorio Nonomura
Aug 17, 2021·Frontiers in Oncology·Yujiro HayashiNorio Nonomura

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Methods Mentioned

BETA
biopsy
Assay
PCR
targeted mutations
biopsies

Software Mentioned

jmp pro
quantasoft

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