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新疆维吾尔族非小细胞肺癌表皮生长因子受体基因突变与临床病理特征的关系
作者:张琰  马玲  单莉 
单位:新疆医科大学附属肿瘤医院肺内科  新疆 乌鲁木齐 830011 
关键词: 非小细胞肺 表皮生长因子受体 基因 外显子 突变 细胞凋亡 
DOI:R734.2
出版年,卷(期):页码:2013,28(5):469-472
摘要:
目的 探讨维吾尔族非小细胞肺癌(non-small cell lung cancers,NSCLC)患者肿瘤组织中表皮生长因子受体(epidermalgrowth factor receptor,EGFR)基因突变与临床病理特征的关系。方法 应用双环探针扩增阻滞突变系统(scorpions amplification refractory mutation system,Scorpions ARMS)检测68例NSCLC石蜡包埋肿瘤组织中EGFR基因第18、19、20和21外显子突变,统计分析EGFR基因突变与不同组织类型NSCLC临床和病理特征的相关性。结果 ARMS检测结果显示,68例NSCLC肿瘤组织中8例存在EGFR突变,突变检出率为11.8%,其中6例为EGFR第19外显子缺失改变,2例为EGFR第21外显子L858R点突变。腺癌与非腺癌EGFR基因突变比较差异具有统计学意义(P<0.05),突变更常见于腺癌。此外,比较EGFR基因突变与NSCLC各临床病理因素的关系,发现EGFR基因突变在性别、年龄、吸烟状况、肿瘤分期及有无淋巴结转移差异均无统计学意义(P>0.05)。结论 维吾尔族NSCLC患者EGFR基因突变更常见于腺癌。
Objective To investigate the mutations of epidermal growth factor receptor (EGFR)gene and its relationship with clinicopathological features in patients with non-small cell lung cancer (NSCLC)in Uygur ethnic groups.Methods Scorpions amplification refractory mutation system (Scorpions ARMS)was used to measure mutations in exons 18, 19, 20 and 21 of EGFR gene in paraffin-embedded tumor tissue from NSCLC, and statistical analysis was performed to investigate the relevance between EGFR genetic mutations and the clinicopathological features in different histological types of NSCLC.Results Results from ARMS testing showed EGFR mutations in tumor tissues from 8 of 68 NSCLC patients of Uygur ethnic group with a positive rate of 11.8%; 6 of them had exon 19 deletion in EGFR,and 2 had L858R point mutation in exon 21 of EGFR.Statistically significant difference was noted in EGFR genetic mutation between adenocarcinoma and non-adenocarcinoma (P < 0.05),but there were no differences between genders,age groups, smoking statuses, or staging and lymph node metastasis (P > 0.05).Conclusion Statistically significant differences are noted in the positive rates of EGFR genetic mutations in NSCLC patients with adenocarcinoma in Uygur ethnic groups.
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