浙江省非小细胞肺癌患者EGFR基因与EML4-ALK融合基因突变的检测及其临床特征
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国家自然科学基金(31171289);浙江省自然科学基金(Y2111021)


Detection of EGFR gene and EML4-ALK fusion gene mutation and analysis of clinical features in NSCLC patients
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    摘要:

    目的:检测中国人非小细胞肺癌表皮生长因子受体(epidermal growth factor receptor,EGFR)基因和棘皮动物微管相关蛋白样-4与渐变性淋巴瘤激酶(EML4-ALK)融合基因的突变情况,同时分析这两种基因与非小细胞肺癌(non-small cell lung cancer,NSCLC)临床病理特征的关系。方法:采用PCR扩增和基因测序法检测252例NSCLCs EGFR基因外显子19和21的突变情况,real-time PCR法检测EML4-ALK融合基因的突变情况,分析突变与临床特征的关系。结果:252例非小细胞肺癌组织标本EGFR的突变率为38.8%(98例),其中19外显子突变率为15.8%(40例),21外显子突变率为23.0%(58例)。EGFR突变的患者多为女性-无吸烟史和腺癌(P < 0.05),与患者年龄无关(P > 0.05)。252例非小细胞肺癌组织标本中,EML4-ALK融合基因突变率4.7%(12例)。EML4-ALK基因突变患者多为女性和年龄较小者(P < 0.05),与患者吸烟史和病理类型无关(P > 0.05)。没有检测到EGFR和EML4-ALK的突变共存情况。结论:中国人中NSCLCs的EGFR突变率较高,在使用EGFR酪氨酸激酶抑制剂治疗前进行EGFR基因突变检测很有必要。EML4-ALK基因突变代表了NSCLC另一种分子亚型,这为临床NSCLC患者的治疗提供了一种新的选择方案。EML4-ALK融合基因突变与EGFR突变共存是罕见的现象。

    Abstract:

    Objective:To analyze the relationship between epidermal growth factor receptor(EGFR) gene,EML4-ALK fusion gene and clinical features in patients with non-small cell lung cancer(NSCLC). Methods:Mutations of exons 19 and 21 of EGFR in 252 NSCLCs were detected by PCR amplification and gene sequencing, EML4-ALK fusion gene mutations were detected by Real-time PCR. The relationships between mutations and clinical features of NSCLCs were analyzed by SPSS software. Results:The total mutation rate of EGFR gene was 38.8%, including 15.8% of exon 19 and 23.0% of exon 21, respectively, and EGFR mutations usually occurred in the female, non-smokers and adenocarcinoma patients(P < 0.05). However, there was no relationship in age(P > 0.05). The total mutation rate of EML4-ALK fusion gene was 4.7%, EML4-ALK fusion gene mutations usually occurred in the female and younger age patients(P < 0.05). Mutations were not related to non-smoking and pathological type (P > 0.05). No mutation was detected to coexist in EGFR and EML4-ALK gene mutation. Conclusion:Due to high mutation frequency of EGFR in Chinese NSCLC patients, it is highly recommended to investigate EGFR gene mutations before treatment with tyrosine kinase inhibitors. EML4-ALK fusion gene defines another molecular subset of NSCLC with distinct characteristics, which provides a new option for the clinical treatment of patients with NSCLC. The coexistence phenomenon of EGFR mutation and EML4-ALK mutation is rare.

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潘丽霞,李 娜,高文京,刘宁生,沈韦羽.浙江省非小细胞肺癌患者EGFR基因与EML4-ALK融合基因突变的检测及其临床特征[J].南京医科大学学报(自然科学版),2016,(7):830-834

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  • 收稿日期:2015-11-06
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  • 在线发布日期: 2016-07-15
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