ГЕНЕТИЧЕСКИЙ ПОЛИМОРФИЗМ ВНУТРИКЛЕТОЧНЫХ СИГНАЛЬНЫХ ПУТЕЙ У ПАЦИЕНТОВ С НЕМЕЛКОКЛЕТОЧНЫМ РАКОМ ЛЕГКОГО

А. Н. Щаюк, Э. В. Крупнова, М. Н. Шепетько, Е. П. Михаленко, Н. В. Чеботарёва, С. Ю. Дедик, А. В. Кильчевский
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Abstract

The key process in the pathogenesis of any malignant neoplasms, including non-small cell lung cancer (NSCLC), is the angiogenesis that is activated by two tyrosine kinase cascades (RAS/RAF/MAPK and PI3K/AKT/mTOR). The main genes controlling these pathways are EGFR, KRAS, PIK3CA and PTEN. The study analyzed the mutations in 18–21 exons of the EGFR gene, 2 exons of the KRAS gene, 9 and 20 exons of the PIK3CA gene and 7 exons of the PTEN gene in patients with NSCLC living in Belarus and their relationship with the clinical and morphological characteristics of the tumor. Our results revealed that mutations in the EGFR gene are significantly frequent more than 5 times in patients with non-small cell lung cancer than those in the control group. Classical mutations in the EGFR gene are found only in patients with lung adenocarcinoma, predominantly in women. Mutations of the KRAS gene are found only in men, and in patients with adenocarcinoma it is 3 times more likely than in patients with squamous cell lung carcinoma. There are no somatic mutations in the PIK3CA and PTEN genes in patients with NSCLC in this study.
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非小细胞肺癌患者的细胞内信号通路基因多态性
包括非小细胞肺癌(NSCLC)在内的任何恶性肿瘤发病的关键过程是由两种酪氨酸激酶级联反应(RAS/RAF/MAPK和PI3K/AKT/mTOR)激活的血管生成。控制这些通路的主要基因是EGFR、KRAS、PIK3CA和PTEN。本研究分析了生活在白俄罗斯的NSCLC患者EGFR基因18-21外显子、KRAS基因2外显子、PIK3CA基因9外显子和20外显子、PTEN基因7外显子的突变及其与肿瘤临床和形态特征的关系。我们的研究结果显示,非小细胞肺癌患者的EGFR基因突变频率明显高于对照组的5倍以上。EGFR基因的经典突变仅在肺腺癌患者中发现,主要发生在女性中。KRAS基因突变仅在男性中发现,并且在腺癌患者中其可能性是鳞状细胞肺癌患者的3倍。本研究中未发现NSCLC患者PIK3CA和PTEN基因的体细胞突变。
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