Background: Lung cancer is among the leading causes of mortality. Nearly 90% of all lung cancers are histologically classified as non-small cell lung cancer (NSCLC). A subset of these tumors harbor mutations on the epidermal growth factor receptor gene (EGFR) and such patients are candidates for targeted therapy with EGFR tyrosine kinase inhibitors (EGFR TKIs). Aim: To compare and contrast the clinicogenomic characteristics of EGFR mutant and wildtype NSCLC. Methods and results: A retrospective cohort study design was used to analyze publicly available data on cBioPortal.org. Patients with EGFR mutations were more likely to be, female; of Asian ethnicity; never-smokers and diagnosed with lung adenocarcinoma. Metastasis to, the pleura; pleural fluid and liver were common in patients with EGFR mutant NSCLC. On the other hand, lymph node, brain and adrenal gland metastases were more common in patients with other mutations. While the median overall survival was about the same in the two groups, progression free survival was significantly shorter in the EGFR mutant group. The mutational landscape was significantly different in the two groups with EGFR mutant NSCLCs having a lower mutational burden. Differences in copy number alterations between the two groups were also noted. Conclusions: The clinicogenomic profiles of EGFR mutant and wildtype significantly differ. Further studies on these differences and underlying mechanisms are likely to lead to new druggable targets that overcome EGFR TKI resistance.

中文翻译：

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EGFR突变体和野生型NSCLC临床基因组学特征的回顾性研究

背景： 肺癌是导致死亡的主要原因。在组织学上，将近90％的肺癌被归类为非小细胞肺癌（NSCLC）。这些肿瘤的一部分在表皮生长因子受体基因（EGFR）上具有突变，此类患者适合用EGFR酪氨酸激酶抑制剂（EGFR TKI）进行靶向治疗。目的： 比较和对比EGFR突变体和野生型NSCLC的临床基因组学特征。方法和结果： 回顾性队列研究设计用于分析cBioPortal.org上的公开数据。EGFR患者女性更容易发生突变；亚洲人 从不吸烟者，并被诊断出患有肺腺癌。转移至胸膜；EGFR突变型NSCLC患者的胸水和肝很常见。另一方面，淋巴结转移，脑转移和肾上腺转移在其他突变患者中更为常见。尽管两组中位总生存期大致相同，但EGFR突变组的无进展生存期明显缩短。两组的突变情况显着不同，其中EGFR突变NSCLC具有较低的突变负担。还指出了两组之间拷贝数变化的差异。结论： 肝癌的临床基因组学特征EGFR突变体和野生型明显不同。对这些差异和潜在机制的进一步研究可能会导致克服EGFR TKI耐药性的新药物靶标。