【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。更多还原

【Abstract】 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.更多还原