摘要
目的检测晚期肺腺癌患者肿瘤组织中驱动基因表皮生长因子受体(epidermal growth factor receptor,EGFR)突变和棘皮动物微管样蛋白4-间变淋巴瘤激酶(echinoderm microtubule associated protein like 4-anaplasitic lymphoma kinase,EML4-ALK)融合状态,并分析其与生存的相关性。方法通过过扩增受阻突变系统(amplification refractory mutation system,ARMS)PCR方法检测74例晚期肺腺癌患者中EGFR基因突变状态,荧光原位杂交(fluorescence in situ hybridization,FISH)方法检测ALK基因融合状态,分析EGFR基因突变率与性别、吸烟史的相关性,EGFR基因突变和ALK基因融合对生存的影响。结果肺腺癌患者中EGFR基因突变率分别为40.5%(30/74),ALK基因融合6.8%(5/74)。EGFR基因外显子18、19、20、21的突变率分别为1.4%(1/74)、20.3%(15/74)、1.4%(1/74)、17.6%(13/74),肺腺癌患者中女性EGFR基因突变高于男性(P=0.007),但未见与吸烟史有明显相关(P=0.099)。EGFR基因突变和ALK基因融合的患者接受靶向治疗后有明显的生存优势(P=0.007)。结论肺腺癌患者中EGFR基因19和21外显子存在较高的突变率,女性患者中尤为明显,针对驱动基因靶向治疗的患者有明显的生存优势。
Objective To analyze the correlation between the expression of cancer driver genes and the survival in patients with lung adenocarcinoma. Methods The mutations of epidermal growth factor receptor（ EGFR） gene were detected by amplification refractory mutation system（ ARMS）-PCR,and the fusion between echinoderm microtubule associated protein like 4 gene and anaplastic lymphoma kinase gene（ EML4-ALK） were detected by fluorescence in situ hybridization（ FISH）,in 74 patients with advanced lung adenocarcinoma. The association of EGFR gene mutation with gender and smoking history of patients was analyzed. The impact of EGFR mutation and ALK fusion on survival rate was examined.Results In lung adenocarcinoma patients,the rates of EGFR gene mutation and ALK gene fusion were 40. 5%（ 30 /74）and 6. 8%（ 5 /74）. Among all detected EGFR mutations,1. 4%（ 1 /74） occurred on exon 18,20. 3%（ 15 /74） on exon19,1. 4%（ 1 /74） on exon 20,and 17. 6%（ 13 /74） on exon 21. Moreover,EGFR mutation rate was higher in females compared to males（ P = 0. 007）,but was not associated with smoking history（ P = 0. 099）. Patients with EGFR gene mutation and ALK gene fusion had significant survival benefit（ P = 0. 007） after targeted therapy. Conclusion In lung adenocarcinoma patients,EGFR gene mutations are more likely to take place on exon 19 and 21,especially in female patients.Patients with mutations of cancer driver genes have higher survival rate after driver gene- targeted therapy.
出处
《实用肿瘤杂志》
CAS
2016年第3期246-249,共4页
Journal of Practical Oncology
基金
浙江省自然科学基金项目(LZ13H160001
LY14H160006)
杭州市卫生科技计划重点项目(2015Z03)
关键词
肺肿瘤
腺癌
基因
erb
B-1
突变
基因融合
无病生存
聚合酶链反应
预后
lung neoplasms
adenocarcinoma
genes
erb B-1
mutation
gene fusion
disease-free survival
polymerase chain reaction
prognosis
