Exploring the Cause of Survival Disparities in EGFR-Mutated Lung Cancer Subtypes: Unraveling Distinctive Genomic and Phenotypic Features of 19Del and L858R Mutation Subtypes

IF 0.4 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Biochemistry (Moscow), Supplement Series B: Biomedical Chemistry Pub Date : 2024-08-27 DOI:10.1134/S1990750824600079

Yongguang Cai, Jiayi Cai, Wei Lu, Haiyan Liang, Sixian Chen, Yongfeng Chen, Qiayi Zha, Yuanyuan Li, Shuiqiang Hong, Suli Zhou, Yuan Lu

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Abstract

Different efficacy of epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKI) has been observed between lung cancer patients with 19 exon deletion (19Del) and with L858R mutation. We investigate the multi-omics information from the TCGA Lung adenocarcinoma (LUAD) dataset and validate it using the GEO (GSE190139, GSE147377) and MSK datasets. Somatic loss-of-function alteration of RBM10 and altered Immune infiltration profile correlated with L858R decreased survival. Meanwhile, 9p21.3 loss, CDKN2B methylation, and increased cell cycle-related gene expression are differential characteristics in the L858R mutation group. Comprehensive genomic and phenotypic analysis of the EGFR-mutated lung cancer subtypes reveals distinctive features of each subtype, laying the groundwork for subtype-specific treatment and care options for lung cancer patients.

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探索表皮生长因子受体突变肺癌亚型生存率差异的原因：揭示19Del和L858R突变亚型的基因组和表型特征

摘要观察发现，表皮生长因子受体酪氨酸激酶抑制剂（EGFR-TKI）对19外显子缺失（19Del）和L858R突变的肺癌患者的疗效不同。我们研究了TCGA肺腺癌（LUAD）数据集的多组学信息，并利用GEO（GSE190139、GSE147377）和MSK数据集进行了验证。RBM10的体细胞功能缺失改变和免疫浸润特征的改变与L858R生存率的降低相关。同时，9p21.3缺失、CDKN2B甲基化和细胞周期相关基因表达增加是L858R突变组的差异特征。对表皮生长因子受体突变的肺癌亚型进行全面的基因组和表型分析，揭示了每种亚型的独特特征，为肺癌患者的亚型特异性治疗和护理方案奠定了基础。

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Biochemistry (Moscow), Supplement Series B: Biomedical Chemistry BIOCHEMISTRY & MOLECULAR BIOLOGY-

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1.10

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期刊介绍： Biochemistry (Moscow), Supplement Series B: Biomedical Chemistry covers all major aspects of biomedical chemistry and related areas, including proteomics and molecular biology of (patho)physiological processes, biochemistry, neurochemistry, immunochemistry and clinical chemistry, bioinformatics, gene therapy, drug design and delivery, biochemical pharmacology, introduction and advertisement of new (biochemical) methods into experimental and clinical medicine. The journal also publishes review articles. All issues of the journal usually contain solicited reviews.