协和医学杂志

2015, v.6(03) 186-190

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非小细胞肺癌患者PIK3CA基因与其他致癌基因共突变
Co-mutation of PIK3CA and Other Oncogenes in Patients with Non-small Cell Lung Cancer

梁乃新;刘雅昕;刘磊;李单青;
LIANG Nai-xin;LIU Ya-xin;LIU Lei;LI Shan-qing;Department of Thoracic Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

摘要(Abstract):

目的研究中国非小细胞肺癌患者PIK3CA基因与其他致癌基因共突变现象及特点。方法 2009年9月至2012年4月全国25家医院病理证实为非小细胞肺癌并进行基因突变检测的患者纳入本研究。收集和分析9个基因位点数据,包括PIK3CA E9、PIK3CA E20、KRAS E2、KRAS E3、BRAF,以及EGFR E18、E19、E20、E21。结果在纳入研究的5125例患者中,有161例(3.14%)存在多个突变,其中77例存在PIK3CA突变,包括50例E9突变和27例E20突变。与PIK3CA共存的其他致癌基因突变位点包括KRAS E2(11例)、KRAS E3(1例)、BRAF(2例)、EGFR E18(4例)、EGFR E20(5例)、EGFR E21(28例)和EGFR E19缺失突变(37例)。在存在PIK3CA共突变的病例中,E9与E20相比,更容易产生共突变现象;与EGFR E20相比,更易与EGFR E21的L858R型突变共存。在PIK3CA E20突变中,H1047R型突变较H1047L型更为常见。与PIK3CA共突变的KRAS突变经常出现在E2的G12位点。BRAF V600E突变也存在与PIK3CA共突变的倾向。结论 PIK3CA是中国非小细胞肺癌常见的共突变致癌基因,其E9与E20突变相互排斥,但均可与其他致癌基因同时存在。其在肺癌发生发展中的作用和对患者预后的意义有待进一步研究。
Objective To investigate the co-mutation of PIK3 CA gene and other oncogenes in non-small cell lung cancer( NSCLC) patients in China. Methods Data were obtained from the patients with pathologically confirmed NSCLC and receiving gene mutation testing in 25 hospitals in China between September 2009 and April 2012. Nine genetic loci were tested and analyzed,including PIK3 CA E9,PIK3 CA E20,KRAS E2,KRAS E3,BRAF,and EGFR( E18,E19,E20,E21). Results A total of 5125 patients were included in this study,of which 161( 3. 14%) had multiple mutations,including 77 with mutations in PIK3 CA,50 in E9 and the other 27 in E20. The other oncogene mutations coexisting with PIK3 CA mutations included KRAS E2( 11 cases),KRAS E3( 1 case),BRAF( 2 cases),EGFR E18( 4 cases),EGFR E20( 5 cases),EGFR E21( 28 cases),and EGFR E19 deletions( 37 cases). Among mutations in PIK3 CA,E9 was more likely than E20 to have coexisting mutations,also more likely to coexist with EGFR E21 L858 R than EGFR E20; whereasamong mutations in PIK3 CA E20,H1047 R was more common than H1047 L. Mutations in KRAS coexisting with PIK3 CA appeared mostly in E2 G12 locus. Mutations in BRAF V600 E were also inclined to coexist with PIK3 CA. Conclusions PIK3 CA might tend to appear concurrently with other oncogene mutations in Chinese NSCLC patients,while mutations in PIK3 CA E9 and E20 are mutually exclusive. Further research is need to reveal the significance of coexistence of PIK3 CA and other oncogene mutations in NSCLC and its impact on patient outcome.

关键词(KeyWords): PIK3CA;致癌基因;突变;非小细胞肺癌
PIK3CA;oncogene;mutation;non-small cell lung cancer

Abstract:

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基金项目(Foundation): 教育部科学技术研究重大项目(311037);; 北京协和医院青年基金(2010116)

作者(Author): 梁乃新;刘雅昕;刘磊;李单青;
LIANG Nai-xin;LIU Ya-xin;LIU Lei;LI Shan-qing;Department of Thoracic Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

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