Detection of FGFR3 gene point mutation in bladder carcinomas using in situ loop-mediated isothermal amplification

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K08387
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human pathology
• Research Institution: Teikyo University
• Principal Investigator: Yamazaki Kazuto 帝京大学, 医学部, 教授 (60302519)
• Research Collaborator: TOYONAGA Yasuhiro ; KIMATA Junichiro
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 膀胱尿路上皮癌 / 点突然変異

Outline of Final Research Achievements

In this study, we found that point mutations of Fibroblast Growth Factor Receptor 3 (FGFR3) gene and Telomerase Reverse Transcriptase (TERT）gene were prevalent in bladder urothelial carcinomas (54.1% and 71.1%, respectively).These results indicate that point mutations of FGFR3 and TERT gene can be useful markers to detect the presence of tumor cells even in urine samples or small biopsy specimens. Next, we performed modified in situ AS-PCR using BNA clamping method to block amplification of wild-type templates and to increase detection of mutant-type allele, and could detect mutation signals specifically in the paraffin-embedded sections. Although there is still room for improvement, this approach also allows an efficient work flow when a number of mutation assays need to be developed simultaneously.

Free Research Field

医歯薬学