食管癌组织和细胞中表皮生长因子受体基因突变的筛选

Screening for Epidermal Growth Factor Receptor Mutations in Esophageal Cancer Tissues and Cell Lines

目的探讨食管癌组织和细胞中表皮生长因子受体(EGFR)基因突变情况。方法提取30例食管癌配对组织和13株食管癌细胞系DNA,巢式PCR及DNA测序检测EGFR 18-21号外显子突变情况,采用Codon Code Aligner软件进行数据分析。结果在30例食管癌组织中检测到4例EGFRV819V、E866V和L858R 3种突变。在KYSE450细胞中检测到EGFR 20号外显子S768I突变,KYSE510细胞中检测到18号外显子A702D突变,在KYSE180、KYSE680和EC9706细胞中检测到20号外显子Q787Q突变。结论 EGFR突变可能参与食管癌癌变机制,为进一步研究食管癌发生发展机理提供理论依据。

Objective To investigate gene mutations of epidermal growth factor receptor（EGFR）in esophageal cancer tissues and esophageal cancer cells.Methods In this study,30 matched pairs of esophageal squamous cancer tissues and non-cancerous epithelium and 13 esophageal cancer cell lines were collected.Then total DNA was extracted beforenested PCR and DNA sequencing targeting exons 18-21 of EGFR gene were performed to detect the presence of mutations in esophageal cancer tissues and esophageal cancer cells, The sequencing data were then analyzed by CodonCode Aligner.Results EGFR mutations were detected in 4 of 30 specimens of esophageal cancer tissues,they were V819V,E866V andL858R.EGFR mutation in exon 20（S768I） and in exon 18 （A702D） were detected in KYSE450 and KYSE510,respectively.EGFR mutation in exon 20 （Q787Q）was found in KYSE180,KYSE680 and EC9706 cells.Conclusion EGFR mutation may be involved in the pathogenesis of esophageal cancer,which may provide theoretical foundation for further research on the initiation and progression of esophageal cancer.