Single-cell sequencing reveals cellular differences and potential mechanisms in congenital pulmonary airway malformation

This study employs single-cell RNA sequencing (scRNA-seq) to investigate cellular heterogeneity and molecular mechanisms underlying congenital pulmonary airway malformation (CPAM), a rare developmental lung disorder. By comparing lesion and adjacent normal lung tissues from a single patient, we identified distinct cell populations, differentially expressed genes (DEGs), and enriched pathways associated with CPAM pathogenesis. Key findings include increased proportions of erythrocytes, plasma cells, and mast cells in CPAM tissues, alongside upregulated genes (e.g., CCL5, NKG7, GZMB, SCGB1A1) linked to immune dysregulation and tissue remodeling.