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目的研究非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因突变与样本来源关系。探讨组织样本、血液样本及恶性胸腔积液样本检测EGFR基因突变的可行性及可靠性。方法收集锦州医科大学附属第一医院胸外科、肿瘤内科及普外科2013年7月1日至2016年7月1日NSCLC患者的组织样本157例、血液样本23例和胸腔积液样本20例。其中男性127例,女性73例;年龄35~82岁,平均年龄61岁。≤61岁67例,>61岁133例。采用E.Z.N.A.TM Tissue DNA Kit提取组织样本DNA,Human EGFR Gene Mutation Fluorescence Polymerase Chain Reaction(PCR)Diagnostic Kit提取血液及恶性胸腔积液样本DNA,使用荧光定量RCR进行EGFR检测。结果 157例组织样本EGFR基因突变率为42.7%(67/157),23例血液样本EGFR基因突变率为34.8%(8/23),胸腔积液样本EGFR基因突变率为80.0%(16/20)。组织样本中,EGFR基因突变率在不同性别(χ~2=1.837,P=0.274)、不同年龄(χ~2=0.645,P=0.247)、TNM分期(χ~2=1.645,P=0.427),各组间差异无统计学意义;吸烟和非吸烟患者差异有统计学意义(χ~2=2.674,P=0.036);手术切除样本和活检样本EGFR基因突变率差异无统计学意义(χ~2=2.165,P=0.374);转移灶EGFR基因突变率高于原发灶,差异有统计学意义(χ~2=4.148,P=0.043)。腺癌EGFR基因突变率高于非腺癌,差异有统计学意义(χ~2=5.274,P=0.021)。结论 NSCLC患者EGFR基因突变率在腺癌人群中高发,与不同性别、年龄、TNM分期、吸烟,身体状态无关;转移灶较原发灶高,有胸腔积液患者较无胸腔积液患者高;腺癌患者高于非腺癌患者。由于肿瘤异质性的存在,应早期尽可能获取不同部位(原发灶和转移灶)、不同部分的肿瘤组织用于检测。在不能获取肿瘤组织样本时,也可以用患者的血液或者胸腔积液样本来代替。
Objective To investigate the relationship between the mutation of epidermal growth factor receptor (EGFR) gene and the sample in patients with non-small cell lung cancer (NSCLC). To investigate the feasibility and reliability of detecting EGFR gene mutations in tissue samples, blood samples and malignant pleural effusion samples. Methods 157 cases of NSCLC from July 1, 2013 to July 1, 2016 were collected from the Department of Thoracic Surgery, Oncology and General Surgery, the First Affiliated Hospital of Jinzhou Medical University. Twenty-three blood samples and 20 pleural effusion samples were collected. Including 127 males and 73 females; aged 35 to 82 years, mean age 61 years. Sixty-one patients aged 61 years and 133 years old> 61 years old. Tissue DNA was extracted from E.Z.N.A.TM. Tissue DNA Kit, DNA from samples of blood and malignant pleural effusion was extracted from Human EGFR Gene Mutation Fluorescence Polymerase Chain Reaction (PCR) Diagnostic Kit, and EGFR detection was performed using fluorescent quantitative RCR. Results The mutation rate of EGFR gene in 157 samples was 42.7% (67/157), the EGFR gene mutation rate was 34.8% (8/23) in 23 blood samples, and the rate of EGFR gene mutation in pleural effusion samples was 80.0% (16/20 ). In the tissue samples, the mutation rate of EGFR gene was significantly higher in patients with different genders (χ ~ 2 = 1.837, P = 0.274), TNM stage (χ ~ 2 = 1.645, P = 0.427) (Χ ~ 2 = 2.674, P = 0.036). There was no significant difference in the mutation rate of EGFR gene between the resected samples and biopsy samples (χ ~ 2 = 2.674, P = 0.036) 2 = 2.165, P = 0.374). The mutation rate of EGFR gene in metastasis was higher than that in primary tumor (χ ~ 2 = 4.148, P = 0.043). The mutation rate of EGFR gene in adenocarcinoma was higher than that in non-adenocarcinoma, the difference was statistically significant (χ ~ 2 = 5.274, P = 0.021). Conclusion The mutation rate of EGFR gene in patients with NSCLC is high in patients with adenocarcinoma, regardless of gender, age, TNM stage, smoking status, body condition. The metastasis rate is higher in patients with pleural effusion than in patients without pleural effusion. Patients with adenocarcinoma than non-adenocarcinoma patients. Due to the existence of tumor heterogeneity, different parts (primary and metastatic lesions) should be obtained as early as possible, and different parts of the tumor tissue should be used for detection. In the case of tumor tissue samples can not be obtained, you can also use the patient’s blood or pleural effusion samples instead.