Transcriptomics

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Multi-omics data reveal the origin of cardiac myxoma


ABSTRACT: Cardiac myxoma, the most common primary cardiac tumor, presents significant challenges due to its heterogeneous cellular composition and poorly defined signaling mechanisms. In this study, we applied single-nucleus RNA sequencing (snRNA-seq) to cardiac myxoma and matched normal cardiac tissues to elucidate the tumor’s cellular origin and molecular characteristics. Our analysis provides strong evidence that myxomas arise from endothelial cells. Abnormal endothelial-to-mesenchymal transition (EndMT) contributes to the coexistence of endothelial and mesenchymal phenotypes, while activation of the MET-PTK2 signaling axis appears to drive tumor progression. Pseudotime trajectory analysis revealed dynamic transitions from endothelial-mesenchymal states to metabolically active phenotypes, uncovering distinct myxoma subtypes with potential therapeutic relevance. This study highlights the value of snRNA-seq in resolving the cellular heterogeneity of rare cardiac tumors and provides a molecular framework for developing personalized therapies.

ORGANISM(S): Homo sapiens

PROVIDER: GSE305759 | GEO | 2025/08/18

REPOSITORIES: GEO

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