细支气管肺泡癌患者EGFR基因突变的研究

Epidermal growth factor receptor mutation in bronchioloalveolar carcinoma

目的探讨表皮生长因子受体(EGFR)基因酪氨酸激酶域体细胞在细支气管肺泡癌(BAC)患者中突变的相关因素。方法分析和检测本院37例细支气管肺泡癌石蜡包埋标本EGFR基因突变状况,采用PCR技术进行EGFR基因18、19、20和21外显子突变分析。结果37例BAC患者中有18例(48.6%)酪氨酸激酶域存在体细胞突变,其中3例(8.1%)为18外显子替代突变,5例(13.5%)为19外显子突变,7例(18.9%)为20外显子替代突变,8例(21.6%)为21外显子替代突变。结论EGFR基因与BAC密切相关。

Objective To study the somatic mutation of tyrosine kinasc （TK） domain of epidermal growth factor receptor （EGFR gene） in bronchioloalveolar carcinoma （BAC） patients. Methods Mutational analysis for EGFR exons 18 -21 was performed in 37 BAC patients. Results Somatic mutations in the TK domain of EGFR were identified in 18 of the 37（48.6% ） patients, including 3 cases of amino acid substitution in exon 18 （ 8.1% ） , 5 eases in exon 19（ 13.5% ） , 7 eases of amino acid substitution in exon 20（ 18.9% ） and 8 cases of amino acid substitution in exon 21 （21.6%）. Conclusion EGFR gene is associated with BAC.