国际肿瘤学杂志

国际肿瘤学杂志 ›› 2014, Vol. 41 ›› Issue (6): 467-470.doi: 10.3760/cma.j.issn.1673422X.2014.06.020

• 论著 • 上一篇    下一篇

非小细胞肺癌患者肿瘤组织和血清EML4ALK融合基因突变的研究

李立则,于忠和   

  1. 100700 北京市北京军区总医院全军肿瘤内科诊治中心(李立则，于忠和)；山西省太原市山西医科大学第二临床医学院（李立则）
  • 出版日期:2014-06-08 发布日期:2014-05-08
  • 通讯作者: 于忠和，Email: zhonghe88@263.com E-mail: zhonghe88@263.com
  • 基金资助:

    基金项目：国家自然科学基金（81372489）

EML4ALK rearrangement in cancer tissue and serum of nonsmall cell lung cancer patients

Li Lize*, Yu Zhonghe   

  1.  *Department of the Center of Diagnosis and Treatment of Oncology of PLA, Military General Hospital of Beijing PLA. Beijing 100700, China
  • Online:2014-06-08 Published:2014-05-08
  • Contact: Yu Zhonghe E-mail: zhonghe88@263.com

PDF

1418

摘要： 目的观察在中国人群中非小细胞肺癌（NSCLC）患者血清及肿瘤组织的棘皮动物微管相关蛋白样4间变性淋巴瘤激酶（EML4ALK）融合基因突变表达率，及血清与肿瘤组织中突变的一致性，探讨临床应用实时荧光定量PCR（FQ PCR）技术进行实时、动态检测EML4ALK融合基因指导临床治疗的可行性。方法采用FQPCR检测123例NSCLC血清和98例NSCLC组织EML4ALK融合基因突变，其中77例血清和肿瘤组织进行配对检测，并研究分析接受ALK抑制剂（克唑替尼）治疗患者的临床疗效。结果123例血清中EML4ALK融合基因突变13例（10.6%），98例肿瘤组织中EML4ALK融合基因突变11例（11.2%），EML4ALK融合基因突变主要存在于腺癌（χ2=4.083，P=0.036）、非吸烟患者（χ2=5.326，P=0.019）。以组织标本基因突变为标准，血清与组织突变一致性达到66.7%（6/9，κ=0.779）。EML4ALK融合基因突变的患者接受间变性淋巴瘤激酶（ALK）抑制剂（克唑替尼）治疗取得显著获益。结论NSCLC肿瘤组织和血清EML4ALK融合基因突变主要存在于腺癌、非吸烟人群。在无法获取肿瘤组织标本时可以采用FQPCR检测血清EML4ALK融合基因突变代替组织基因检测，筛选出适合克唑替尼治疗的NSCLC患者。

关键词: 癌, 非小细胞肺, 逆转录聚合酶链反应, EML4ALK

Abstract: ObjectiveTo observe EML4ALK fusion gene mutation expression rate in serum and cancer tissue of patients with nonsmall cell lung cancer (NSCLC) in Chinese populations, and the consistency of mutation in serum and cancer tissues, and the feasibility of realtime, dynamic detection of EML4ALK fusion gene therapy by using FQPCR.Methods123 cases of serum and 98 cases of tissue of NSCLC patients were detected by fluorescence quantitative polymerase chain reaction, and 77 cases of which were matched. The clinical curative effects of ALK inhibitor (crizotinib) were analyzed.Results13 rearrangement in 123 (10.6%) of the patients′serum samples and 11 rearrangement in 98 (11.2%) tumor tissue. EML4ALK rearrangement were mainly discovered in adenocarcinoma (χ2=4.083, P=0.036)， and nonsmokers in NSCLC(χ2=5.326, P=0.019). The consistency of patients with EML4ALK matched tumor tissue and serum reached 66.7% (6/9, κ=0.779). The EML4ALK fusion gene rearrangement in patients receiving ALK inhibitor (crizotinib) treatment achieved significant benefit.  ConclusionThe EML4ALK rearrangement mainly exists in the serum and tumor tissue of adenocarcinoma and nonsmokers in NSCLC. When tumor tissue samples are unable to be obtained, FQPCR can be used to detect serum EML4ALK fusion gene mutation for selecting NSCLC patients suitable for crizotinib therapy instead of tumor tissue.

Key words: Carcinoma, nonsmall cell lung, Reverse transcriptase polymerase chain reaction, EML4ALK