Integrative single-cell and bulk RNA sequencing unravels the role of ACTN1 in promoting lung cancer with brain metastasis and epidermal growth factor receptor-tyrosine kinase inhibitor resistance

整合单细胞和批量RNA测序揭示了ACTN1在促进肺癌脑转移和表皮生长因子受体酪氨酸激酶抑制剂耐药中的作用。

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Abstract

BACKGROUND: Brain metastasis (BM) remains a severe and fatal complication in patients with lung cancer (LC), presenting a major therapeutic challenge. Although epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) have emerged as a cornerstone of targeted therapy, their clinical efficacy is often limited by the inevitable development of drug resistance. METHODS: We initially constructed a general atlas of the tumor microenvironment (TME) in LCBM lesions by integrating single-cell RNA sequencing (scRNA-seq) data. The sensitivity of each cell cluster to EGFR-TKIs was assessed by the "Beyondcell" method. By performing high-dimensional Weighted Gene Co-expression Network Analysis (hdWGCNA), we identified hub genes within an EGFR-TKI resistance-associated cell cluster. Finally, the functional role of the most promising candidate, ACTN1, was further investigated in a constructed osimertinib-resistant LC cell line. RESULTS: We identified a malignant and therapy-resistant ACTN1(+) epithelial cell subcluster. Both signaling and functional enrichment analyses demonstrated marked activation of PI3K-Akt and IL-17 signaling pathways in ACTN1-high patient subgroups. Finally, we applied machine learning methods to the ACTN1-related genes to select prognostic factors. In vitro experiments confirmed the pro-resistance and pro-metastatic functions of ACTN1 in osimertinib-resistant LC cells. CONCLUSION: ACTN1 was discovered to induce malignant progression and formation of EGFR-TKI resistance. Targeting ACTN1-related pathways may provide novel insights to treat LCBM and overcome intracranial EGFR-TKI resistance.

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