摘要目的:探讨湖北十堰地区非小细胞肺癌（NSCLC）患者表皮生长因子受体（EGFR）基因突变情况及其与患者临床病理特征的关系。方法:回顾性分析2017年11月至2020年1月就诊于湖北医药学院附属国药东风总医院的173例NSCLC患者资料。通过突变扩增阻滞系统（ARMS）-TaqMan探针法检测NSCLC组织中EGFR基因突变情况，同时收集患者的临床病理资料，分析EGFR基因突变状态与患者临床病理特征之间的关系。结果:173例样本中76例发生EGFR基因突变，突变率为44.5%。其中第18号外显子突变率为6.6%（5/76），均为G719X突变；第19号外显子突变率为46.1%（35/76），均为Del突变；第20号外显子突变率为1.3%（1/76），为EGFR基因20ins突变；第21号外显子突变率为44.7%（34/76），其中33例为EGFR基因L858R突变，1例为EGFR基因L861Q突变；1例为第19号外显子Del合并第20号外显子T790M双重突变。不同性别、吸烟史、病理分型的患者EGFR突变率比较差异均有统计学意义（均 P<0.05），女性患者高于男性患者[59.7%（46/77）比31.3%（30/96）， χ2＝14.08， P<0.001 ]，有吸烟史的患者低于无吸烟史患者[27.1%（13/48）比52.9%（63/119）， χ2＝9.22， P<0.001]，腺癌患者高于非腺癌患者[50.7%（75/148）比4.0%（1/25）， χ2＝18.92， P<0.001 ]。EGFR突变情况与患者年龄无相关性。 结论:湖北十堰地区NSCLC患者中EGFR突变主要集中在第19号外显子Del及第21号外显子L858R，且易发生在腺癌、女性及无吸烟史的患者。

abstractsObjective:To investigate the epidermal growth factor receptor (EGFR) gene mutation status in patients with non-small cell lung cancer (NSCLC) in Shiyan, Hubei and its relationship with the clinicopathological characteristics of patients.Methods:The data of 173 NSCLC patients who were admitted to Affiliated Dongfeng Hospital of Hubei University of Medicine from November 2017 to January 2020 were retrospectively analyzed. EGFR gene mutations in NSCLC tissues were detected by amplification refractory mutation system (ARMS)-TaqMan probe method, and clinicopathological data of patients were also collected to analyze the relationship between EGFR gene mutation status and clinicopathological characteristics of patients.Results:EGFR gene mutations were found in 76 of 173 patients, and the total mutation rate was 44.5%. The mutation rate of exon 18 was 6.6% (5/76), all of which were G719X mutation; the mutation rate of exon 19 was 46.1% (35/76), all of which were Del mutation; the mutation rate of exon 20 was 1.3% (1/76), which were EGFR gene 20ins mutation; the mutation rate of exon 21 was 44.7% (34/76), of which 33 cases were EGFR gene L858R mutation, and 1 case was EGFR gene L861Q mutation; 1 case was a double mutation of exon 19 Del combined with exon 20 T790M. The differences in EGFR mutation rates were statistically significant among patients with different gender, smoking history and pathological staging (all P < 0.05), and EGFR mutation rate in female patients was higher than that in male patients [59.7% (46/77) vs. 31.3% (30/96), χ2 = 14.08, P < 0.001], it was lower in patients with smoking history than that in patients without smoking history [27.1% (13/48) vs. 52.9% (63/119), χ2 = 9.22, P < 0.001], and it was higher in patients with adenocarcinoma than that in patients with non-adenocarcinoma [50.7% (75/148) vs. 4.0% (1/25), χ2 = 18.92, P < 0.001]. EGFR mutation status had no relevance with patients' age. Conclusions:The main types of EGFR mutations are exon 19 Del and exon 21 L858R in NSCLC patients in Shiyan, Hubei. EGFR mutations are more likely to occur in adenocarcinoma, female and no-smoking patients.