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.