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越南人群非小细胞肺癌患者的可操作突变特征。

Actionable Mutation Profiles of Non-Small Cell Lung Cancer patients from Vietnamese population.

机构信息

University of Medicine and Pharmacy at Ho Chi Minh city, Ho Chi Minh city, Vietnam.

Gene Solutions, Ho Chi Minh city, Vietnam.

出版信息

Sci Rep. 2020 Feb 17;10(1):2707. doi: 10.1038/s41598-020-59744-3.

DOI:10.1038/s41598-020-59744-3
PMID:32066856
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7026432/
Abstract

Comprehensive profiling of actionable mutations in non-small cell lung cancer (NSCLC) is vital to guide targeted therapy, thereby improving the survival rate of patients. Despite the high incidence and mortality rate of NSCLC in Vietnam, the actionable mutation profiles of Vietnamese patients have not been thoroughly examined. Here, we employed massively parallel sequencing to identify alterations in major driver genes (EGFR, KRAS, NRAS, BRAF, ALK and ROS1) in 350 Vietnamese NSCLC patients. We showed that the Vietnamese NSCLC patients exhibited mutations most frequently in EGFR (35.4%) and KRAS (22.6%), followed by ALK (6.6%), ROS1 (3.1%), BRAF (2.3%) and NRAS (0.6%). Interestingly, the cohort of Vietnamese patients with advanced adenocarcinoma had higher prevalence of EGFR mutations than the Caucasian MSK-IMPACT cohort. Compared to the East Asian cohort, it had lower EGFR but higher KRAS mutation prevalence. We found that KRAS mutations were more commonly detected in male patients while EGFR mutations was more frequently found in female. Moreover, younger patients (<61 years) had higher genetic rearrangements in ALK or ROS1. In conclusions, our study revealed mutation profiles of 6 driver genes in the largest cohort of NSCLC patients in Vietnam to date, highlighting significant differences in mutation prevalence to other cohorts.

摘要

全面分析非小细胞肺癌(NSCLC)中的可操作突变对于指导靶向治疗至关重要,从而提高患者的生存率。尽管越南 NSCLC 的发病率和死亡率很高,但越南患者的可操作突变谱尚未得到彻底研究。在这里,我们采用大规模平行测序技术,在 350 名越南 NSCLC 患者中鉴定了主要驱动基因(EGFR、KRAS、NRAS、BRAF、ALK 和 ROS1)的改变。结果显示,越南 NSCLC 患者的 EGFR(35.4%)和 KRAS(22.6%)突变最为常见,其次是 ALK(6.6%)、ROS1(3.1%)、BRAF(2.3%)和 NRAS(0.6%)。有趣的是,晚期腺癌患者的 EGFR 突变率高于高加索人群的 MSK-IMPACT 队列。与东亚队列相比,EGFR 突变率较低,而 KRAS 突变率较高。我们发现 KRAS 突变在男性患者中更为常见,而 EGFR 突变在女性患者中更为常见。此外,年龄较小(<61 岁)的患者中 ALK 或 ROS1 的基因重排更为常见。总之,本研究揭示了迄今为止越南最大的 NSCLC 患者队列中 6 个驱动基因的突变谱,突显了与其他队列相比,突变发生率存在显著差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a99e/7026432/e7b8a25367e5/41598_2020_59744_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a99e/7026432/400a83e79ecb/41598_2020_59744_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a99e/7026432/0d9cd07dcf13/41598_2020_59744_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a99e/7026432/e7b8a25367e5/41598_2020_59744_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a99e/7026432/400a83e79ecb/41598_2020_59744_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a99e/7026432/0d9cd07dcf13/41598_2020_59744_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a99e/7026432/e7b8a25367e5/41598_2020_59744_Fig3_HTML.jpg

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