非小细胞肺癌患者EML4-ALK融合基因的检测及其临床病理特征分析  

Detection of EML4- ALK Fusion Gene and Analysis of its Clinicopathological Characteristics in NSCLC Patients

作　　者：张海燕[1] 王捷[1] 陈晓东[2] 廖秋林[2] 张伟[2] 陈钰[1] 冼江[1] 

机构地区：[1]广州军区广州总医院医学实验科,广东广州510010 [2]广州军区广州总医院病理科,广东广州510010

出　　处：《生物技术通讯》2015年第3期377-380,共4页Letters in Biotechnology

摘　　要：目的：检测EML4-ALK融合基因在非小细胞肺癌（NSCLC）人群中的突变率,并分析其与临床病理特征的关系。方法：采用逆转录定量PCR检测66例NSCLC患者组织标本中EML4-ALK融合基因的突变率;采用DNA扩增后直接测序的方法检测EML4-ALK阳性患者的组织标本中EGFR基因（18~21号外显子）及K-Ras基因（2号外显子）的突变情况。结果：66例NSCLC患者的组织标本中,有5例（7.6%）存在EML4-ALK融合基因阳性,这5例组织标本的EGFR（18~21号外显子）及K-Ras（2号外显子）均为野生型。5例阳性患者中,4例年龄小于总体患者的平均年龄（59±11）岁,占80%（4/5）;女性患者4例,占80%（4/5）;不吸烟患者3例,占60%（3/5）。EML4-ALK融合基因阳性NSCLC患者均为腺癌,1例NSCLC组织为腺泡样结构,3例组织为印戒细胞样结构,4例伴有胞内或胞外黏液。结论：EML4-ALK融合基因阳性NSCLC多见于年轻女性腺癌患者,多为伴有黏液产生的印戒细胞样结构,不同时合并EGFR和KRas突变。Objective： To detect the frequency of EML4-ALK fusion gene in non-small-cell lung cancer（NSCLC）patients and to analyze the relationship between EML4- ALK fusion gene and clinicpathological characteristics.Methods： Sixty six patients with NSCLC were identified the EML4-ALK gene by RT realtime-PCR.In EML4-ALK-positive samples,exon 18 to 21 EGFR mutations and exon 2 K-Ras mutation were detected byDNA directsequencing after PCR amplification.Results： Five specimens（7.6%） were identified with EML4-ALK fusion genesfrom 66 NSCLC tissues.In 5 EML4-ALK-positive samples,exon 18 to 21 EGFR and exon 2 K-Ras were wildtypes.Among 5 EML4-ALK-positive cases,4 cases（4/5,80%） were younger than the mean age[（59±11） years].Four cases（4/5,80%） were female and 3 cases（4/5,80%） were non-smokers.All cases had adenocarcinoma his-tology.One case was of acinar-like structure,3 cases were of signet-ring like structures and 4 cases with mucuspresent in intracellular and extracellular.Conclusion： EML4-ALK-positive NSCLC were mostly found in young fe-male adenocarcinoma patients.The pathological characteristics were signet-ring predominant with intra/extracytoplas-mic mucin.EML4-ALK-positive cases are without EGFR or K-Ras mutation under the general condition.

关 键 词：EML4-ALK融合基因 非小细胞肺癌 基因突变 

分 类 号：R734.2[医药卫生—肿瘤] Q78[医药卫生—临床医学]