Oncology Department, Beijing Chest Hospital of Capital Medical University, Beijing, China.
Pathology Department, Beijing Chest Hospital of Capital Medical University, Beijing, China.
Int J Biol Markers. 2020 Dec;35(4):44-50. doi: 10.1177/1724600820967015. Epub 2020 Oct 16.
To understand the association between driver gene variations and age and gender in patients with lung adenocarcinoma, we investigated mutations of the three most important driver genes-epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK) fusion genes and c-ros oncogene 1 (ROS1)-in this retrospective cohort study.
Patients newly diagnosed with lung adenocarcinoma who received EGFR and ALK/ROS1 gene tests at our hospital from September 2014 to May 2019 were enrolled. EGFR mutations and ROS1 fusions were examined by ARMS-PCR and ALK fusions by Ventana-D5F3 IHC assay and ARMS-PCR.
Of 2544 eligible subjects, 2539 accomplished EGFR mutation tests. The prevalence of EGFR mutations was 62.1% in females, higher than that of 45.1% in males. In females, the EGFR mutation rate remained relatively stable at 60%-65% across the six age groups. Females showed an increased distribution of EGFR L858R and a decreased distribution of exon 19 deletion (19Del) by age. The incidence of ALK/ROS-1 rearrangements decreased significantly with age.
EGFR 19Del mutation is more prevalent in younger males and females, while L858R mutation is prevalent in older females. Both ALK and ROS1 rearrangements are more common in younger lung adenocarcinoma. The young lung adenocarcinoma population is a distinct group rich in targetable genomic alterations, and more research is needed to understand the mechanism.
为了了解肺腺癌患者中驱动基因变异与年龄和性别之间的关系，我们在这项回顾性队列研究中调查了三个最重要的驱动基因——表皮生长因子受体（EGFR）、间变性淋巴瘤激酶（ALK）融合基因和 c-ros 原癌基因 1（ROS1）的突变情况。
纳入 2014 年 9 月至 2019 年 5 月在我院新诊断为肺腺癌并接受 EGFR 和 ALK/ROS1 基因检测的患者。采用 ARMS-PCR 检测 EGFR 突变，采用 Ventana-D5F3 IHC 检测和 ARMS-PCR 检测 ALK 融合，采用 ARMS-PCR 检测 ROS1 融合。
在 2544 名合格的受试者中，有 2539 名完成了 EGFR 突变检测。女性 EGFR 突变率为 62.1%，高于男性的 45.1%。在女性中，EGFR 突变率在六个年龄组中相对稳定在 60%-65%。随着年龄的增长，女性 EGFR L858R 的分布增加，exon19 缺失（19Del）的分布减少。ALK/ROS-1 重排的发生率随年龄显著下降。
EGFR 19Del 突变在年轻的男性和女性中更为常见，而 L858R 突变在年长的女性中更为常见。ALK 和 ROS1 重排都更常见于年轻的肺腺癌患者。年轻的肺腺癌人群是一个富含可靶向基因组改变的独特群体，需要更多的研究来了解其机制。
