利用高分辨率熔解分析快速鉴定台湾子宫内膜癌患者的FGFR2基因突变
Rapid Identification of FGFR2 Gene Mutations in Taiwanese Patients With Endometrial Cancer Using High-resolution Melting Analysis.
作者信息
Lin Yi-Ching, Er Tze-Kiong, Yeh Kun-Tu, Hung Chih-Hsing, Chang Jan-Gowth
机构信息
*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.
出版信息
Appl Immunohistochem Mol Morphol. 2015 Aug;23(7):532-7. doi: 10.1097/PAI.0000000000000114.
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.
目的
成纤维细胞生长因子受体2（FGFR2）基因的突变已在子宫内膜癌中被报道，且突变型FGFR2已被指出是一个潜在的治疗靶点。本研究的目的是使用高分辨率熔解（HRM）分析来鉴定FGFR2热点突变，并调查这些突变在台湾子宫内膜癌患者群体中的发生情况。
设计与方法
设计HRM分析以表征FGFR2热点突变。从72例新鲜冷冻的子宫内膜癌组织中提取DNA，通过HRM分析进行FGFR2突变分析。通过HRM分析对FGFR2的6个外显子进行筛查。所有结果均通过直接测序进行确认。
结果
我们已鉴定出FGFR2基因中6个已报道的突变。突变c.879C>T（p.Q289P）首次在子宫内膜癌中被报道。每个突变都能在差异图曲线中轻松且准确地被识别。在台湾人群的子宫内膜癌患者中，FGFR2热点突变的频率为9.7%（7/72）。
结论
HRM分析是一种快速、可行且可靠的诊断方法，可用于临床环境中FGFR2突变的检测。我们的结果表明了FGFR2突变状态在台湾子宫内膜癌患者群体中的流行情况。
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