Calibasi-Kocal Gizem, Amirfallah Arsalan, Sever Tolga, Umit Unal Olcun, Gurel Duygu, Oztop Ilhan, Ellidokuz Hulya, Basbinar Yasemin
Department of Translational Oncology, Institute of Oncology, Dokuz Eylul University, Izmir 35340, Turkey.
Biomedical Center, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Biomed Rep. 2020 Aug;13(2):2. doi: 10.3892/br.2020.1308. Epub 2020 Jun 2.
Epidermal growth factor receptor mutations are potential markers driving carcinogenesis, and may alter the response to EGFR tyrosine kinase inhibitors in patients with non-small cell lung cancer (NSCLC). The frequency of mutations in patients with NSCLC differs according to sex, smoking habits and regional-based ethnicity differences. The aim of the present study was to determine the frequency of mutations in Turkish patients with NSCLC to highlight the importance of regional differences, and their associations with patient characteristics. Genomic DNA was extracted from formalin-fixed and paraffin-embedded tumor tissue sections of 409 NSCLC patients. The most common mutations in exons 18, 19, 20 and 21 were detected using BioFilmChip-based microarray assay. The overall mutation frequency was 16.6%, and the highest mutation frequencies were observed in exon 19 (6.4%) and exon 21 (7.3%). There was a higher frequency of mutations in females compared with males and in never-smokers compared with smokers (both P≤0.05). These results were similar to other European population-based studies, but not consistent Middle-Eastern based studies. The present study may contribute to understanding the gradient frequency of mutation across different ethnicities, and in designing genome wide-based collaborations that may reveal novel decision making and susceptibility mutations in in patients with NSCLC.
表皮生长因子受体突变是驱动致癌作用的潜在标志物,并且可能改变非小细胞肺癌(NSCLC)患者对表皮生长因子受体酪氨酸激酶抑制剂的反应。NSCLC患者中突变的频率因性别、吸烟习惯和基于地区的种族差异而有所不同。本研究的目的是确定土耳其NSCLC患者中突变的频率,以突出地区差异的重要性及其与患者特征的关联。从409例NSCLC患者的福尔马林固定石蜡包埋肿瘤组织切片中提取基因组DNA。使用基于生物膜芯片的微阵列分析检测外显子18、19、20和21中最常见的突变。总体突变频率为16.6%,在外显子19(6.4%)和外显子21(7.3%)中观察到最高的突变频率。女性患者的突变频率高于男性患者,从不吸烟者的突变频率高于吸烟者(P均≤0.05)。这些结果与其他基于欧洲人群的研究相似,但与基于中东地区的研究不一致。本研究可能有助于理解不同种族间突变的梯度频率,并有助于设计全基因组范围的合作研究,从而揭示NSCLC患者新的决策和易感性突变。