EGFR基因在非小细胞肺癌、乳腺癌中突变的研究

表皮生长因子受体(EGFR)基因酪氨酸激酶域体细胞突变与非小细胞肺癌(NSCLC)患者对酪氨酸激酶抑制剂吉非替尼敏感性密切相关。文章分析和检测本院75例非小细胞肺癌、10例乳腺癌患者石蜡包埋标本EGFR基因突变状况。采用PCR技术进行EGFR基因19和21外显子突变分析。结果显示:75例NSCLC患者中有13例(13/75,17.33%)酪氨酸激酶域存在体细胞突变。其中7例(7/75,9.33%)为19外显子缺失突变,6例(6/75,8%)为21外显子替代突变(2573T>G,L858R)。病理分型显示,腺癌突变率高于其他几种类型NSCLC。乳腺癌患者均为免疫组化HER-2阳性女性,EGFR基因的19、21外显子中未见突变发生。中国非小细胞肺癌患者总突变率高于高加索人种,女性患者较男性患者突变率高,提示肺腺癌的患者突变率高可能在吉非替尼的治疗中获益。

Epidermal growth factor receptor mutation in non-small cell lung cancer and breast cancer

Somatic mutation in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene is associated with the sensitivity of non-smal cell lung cancer (NSCLC) to TK inhibitor Gefitinib. Mutational analysis for EGFR exons 19 and 21 was performed in 75 NSCLC and 10 breast cancer patients. All patients had not received treatment of Gefitinib. Somatic mutations in TK domain of EGFR were identified in 13 of the 75(13/75, 17.33%) patients, including 7 cases of in-frame deletion in exon 19 (7/75, 9.33%) and 6 cases of amino acid substitution (2573T>G, L858R) in exon 21 (6/75, 8%) . No other mutations were found in 10 breast cancer patients who stained positive for HER2 immunhistochemis- try. Adenocarcinoma has a higher rate of mutations than several other types of NSCLC, the mutations occurring more fre- quently in female patients. EGFR mutation rate in Chinese NSCLC patients was higher than that in Caucasians. Our data indicated that Chinese adenocarcinoma patients could benefit from TK inhibitor Gefitinib.