新疆维吾尔族肺腺癌患者表皮生长因子受体基因的多态性研究

Research on polymorphism of epidermal growth factor receptor gene in Uighur patients with lung adenocarcinoma

  • 摘要: 目的:研究维吾尔族肺腺癌患者表皮生长因子受体(EGFR)的突变特征。方法选择维、汉民族临床肺腺癌患者181例(维吾尔族76例,汉族105例),记录每位患者的临床特征。留取手术或穿刺组织的石蜡标本,采用 ARMs 法检测肿瘤组织 EGFR 基因18~21外显子突变,比较维、汉两族患者 EGFR 基因突变率,并分析 EGFR 突变与临床特征的关系。结果所有患者总 EGFR 突变率为32.6%,其中维吾尔族突变率为15.8%,汉族为45.7%,2组突变率比较差异显著,且突变均以19号外显子缺失突变及21号外显子 L858R 为主,维吾尔族19号外显子缺失突变更为多见。汉族患者 EGFR 基因突变与性别、吸烟史、肿瘤分化程度有关,而维吾尔族患者 EGFR 基因突变与吸烟史有关,与其他因素关系不确定。结论新疆地区维吾尔族患者 EGFR 基因突变率较同地域内的汉族患者低,19号外显子敏感突变更为常见。

     

    Abstract: Objective To explore the characteristics of epidermal growth factor receptor (EGFR)mutation in patients with lung adenocarcinoma in Xinjiang automonous region.Methods 181 patients with lung adenocarcinoma were collected (Uighur:71 cases;Han:105 cases).The clinical characteristics of each patient was recorded,and the paraffin embedded tumor tissue was col-lected.Exons 18~21 of EGFR genes were detected by ARMs.The mutation rates of EGFR genes were compared in Uyghur and Han nationalities,and the relationship between EGFR gene muta-tions and clinical ccharacteristics were analyzed.Results EGFR mutation rate was 32.6% in all patients ,in which the mutations rate in Han patients (4 5 .7 % )was higher than Uyghur patients (15.8%).The main mutation types were the deletion of exon 19 and L858R of exon 21.The dele-tion of exon 19 was more common in Uyghur patients.In Han patients,EGFR mutation was relat-ed to the gender,smoking history and the differentiated degree of tumors,whereas Uyghur patients was only associated with smoking history.Conclusion For Uyghur patients,EGFR mutation rate is lower than Han patients in the same area,and exon 19 sensitive mutation is more frequent.

     

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