非小细胞肺癌EML4-ALK融合基因检测结果的初步分析

Initial analysis of EML4-ALK fusion gene in non-small cell lung cancer

目的探讨非小细胞肺癌(NSCLC)组织棘皮动物微管样蛋白4-间变淋巴瘤激酶(EML4-ALK)融合基因的突变情况,及其与NSCLC临床病理特征和预后的关系。方法采用突变扩增阻滞系统检测26例NSCLC组织中EML4-ALK融合基因的9种突变和表皮生长因子受体(EGFR)的18、19、20、21外显子突变,进一步分析EML4-ALK融合基因突变与NSCLC临床病理特征和总生存期(OS)的关系。结果 26例NSCLC患者中检测到6例EML4-ALK融合基因突变。EML4-ALK融合基因突变与年龄、吸烟史、临床分期、组织分化和EGFR突变有关,与病理类型、性别、标本类型和血清癌胚抗原无关(P>0.05)。EML4-ALK融合基因阳性者的中位OS为9个月,低于阴性者的12个月,但差异无统计学意义(P=0.460)。结论 NSCLC中EML4-ALK融合基因突变多见于无吸烟史或少量吸烟、年龄较小、临床分期较晚、组织分化较差、无EGFR突变的患者。

Objective To investigate the mutation of echinoderm microtubule associated protein like 4-anaplastic lymphoma ki- nase （EMIA-ALK） fusion gene in non-small cell lung cancer （NSCLC）, and analyze its mutation with clinicopathologic characteristics and prognosis. Methods Amplification refractory＂ mutation system was used to detect 9 mutations of EMIA-ALK fusion gene and 4 muta- tions including exon 18, 19, 20 and 21 of epidermal growth factor receptor （EGFR） in 26 patients with NSCLC. The relationship between EMIA-ALK mutations and clinicopathologic characters, overall survival （OS） was further analyzed. Results There were 6 patients with EMIA-ALK fusion gene mutations out of 26 patients. EMIA-ALK fusion gene mutations were not related to pathological types, gender, specimen types and sermn carcinoenbryonie antigen, but with smoking, age, clinical stage, EGFR mutations and histological differentia- tion. The median OS of patients with EMIA-ALK fusion gene mutations was 9 months, while those without mutations were 12 months （P = 0. 460）. Conclusion EML4-ALK fusion gene mutations are often found in NSCLC patients with younger age, no history of smoking o1＂ a small amount of smoking, later clinical stage, poor histological differentiation and without EGFR mutation.