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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

梁乃新 刘雅昕 刘磊 李单青

梁乃新, 刘雅昕, 刘磊, 李单青. 非小细胞肺癌患者PIK3CA基因与其他致癌基因共突变[J]. 协和医学杂志, 2015, 6(3): 186-190. doi: 10.3969/j.issn.1674-9081.2015.03.005
引用本文: 梁乃新, 刘雅昕, 刘磊, 李单青. 非小细胞肺癌患者PIK3CA基因与其他致癌基因共突变[J]. 协和医学杂志, 2015, 6(3): 186-190. doi: 10.3969/j.issn.1674-9081.2015.03.005
Nai-xin LIANG, Ya-xin LIU, Lei LIU, Shan-qing LI. Co-mutation of PIK3CA and Other Oncogenes in Patients with Non-small Cell Lung Cancer[J]. Medical Journal of Peking Union Medical College Hospital, 2015, 6(3): 186-190. doi: 10.3969/j.issn.1674-9081.2015.03.005
Citation: Nai-xin LIANG, Ya-xin LIU, Lei LIU, Shan-qing LI. Co-mutation of PIK3CA and Other Oncogenes in Patients with Non-small Cell Lung Cancer[J]. Medical Journal of Peking Union Medical College Hospital, 2015, 6(3): 186-190. doi: 10.3969/j.issn.1674-9081.2015.03.005

非小细胞肺癌患者PIK3CA基因与其他致癌基因共突变

doi: 10.3969/j.issn.1674-9081.2015.03.005
基金项目: 

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

详细信息
    通讯作者:

    李单青 电话:010-69152630, E-mail:lsq6768@sohu.com

  • 中图分类号: R604;R34

Co-mutation of PIK3CA and Other Oncogenes in Patients with Non-small Cell Lung Cancer

More Information
  • 摘要:   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。
  • 表  1  9例非小细胞肺癌致癌基因三突变和五突变患者特征

    病例 性别 吸烟史 PIK3CA基因突变 共突变基因
    1 2 3 4
    1 E9(p.E542K) EGFR E19(deletion) KRAS E2(p.G13D) - -
    2E9(p.E542K)EGFR E19(deletion)EGFR E20(p.T790M)--
    3E9(p.E542K)EGFR E19(deletion)EGFR E20(p.S768I)--
    4E9(p.E542K)EGFR E18(p.G719A)EGFR E20(p.S769I)--
    5E9(p.E545K)EGFR E19(deletion)KRAS E2(p.G12)--
    6E9(p.E545K)EGFR E19(deletion)KRAS E3(p.Q61K)--
    7E20(p.H1047R)EGFR E18(p.G719A)EGFR E21(p.L861Q)--
    8E20(p.H1047R)EGFR E19(deletion)EGFR E20(p.T790M)--
    9E20(p.H1047L)EGFR E19(deletion)EGFR E20(p.T791M)EGFR E21(p.L858R)KRAS E2(p.G12)
    下载: 导出CSV
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  • 收稿日期:  2015-02-07
  • 刊出日期:  2015-05-30

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