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Published on: September 2, 2019
Rapid Identification of FGFR2 Gene Mutations in Taiwanese Patients With Endometrial Cancer Using High-resolution
Yi-Ching Lin1, Tze-Kiong Er, Kun-Tu Yeh
1*Departments of Laboratory Medicine †Pediatrics ¶Department of Laboratory Medicine, Division of Molecular Diagnostics, Kaohsiung Medical University Hospital ‡Department of Laboratory Medicine, College of Medicine §Graduate Institute of Clinical Medicine, College of Medicine ∥Translational Research Center, Kaohsiung Medical University Hospital ††Graduate Institute of Medicine, College of Medicine ‡‡Department of Pediatrics, Faculty of Pediatrics, College of Medicine, Kaohsiung Medical University **Department of Pediatrics, Kaohsiung Municipal Hsiao-Kang Hospital, Kaohsiung #Departmant of Pathology, Changhua Christian Hospital, Changhua §§Department of Laboratory Medicine, Epigenome Research Center, China Medical University Hospital, China Medical University, Taichaung, Taiwan.
Objectives:
Mutations in fibroblast growth factor receptor 2 (FGFR2) gene have been reported in endometrial cancer and mutant FGFR2 has been pointed out as a potential therapeutic target. The aim of the current study was to use a high-resolution melting (HRM) analysis to identify FGFR2 hotspot mutations and to investigate the occurrence of these mutations in the Taiwanese population with endometrial cancer.
Design And Methods:
HRM analysis was designed to characterize the FGFR2 hotspot mutations. DNAs were extracted from 72 cases of fresh-frozen endometrial cancer tissues for FGFR2 mutational analysis by HRM analysis. The 6 exons of FGFR2 were screened by HRM analysis. All results were confirmed by direct sequencing.
Results:
We have identified the 6 reported mutations in the FGFR2 gene. The mutation c.879C>T (p.Q289P) was first reported in endometrial cancer. Each mutation could be readily and accurately identified in the difference plot curves. The frequency of FGFR2 hotspot mutations is 9.7% (7/72) in patients with endometrial cancer in the Taiwanese population.
Conclusions:
HRM analysis is rapid, feasible, and a reliable diagnostic method for the detection of FGFR2 mutations in a clinical setting. Our results indicated the prevalence of FGFR2 mutational status in the Taiwanese population with endometrial cancer.
