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<p>This study investigates the distinct cellular composition of cardiac myxoma (CM), the pathways underlying its origin, and the mechanisms driving the development of diverse tumor morphologies. A comprehensive single-cell RNA sequencing (scRNA-seq) analysis was performed on five CM tissue samples and five normal atrial septum samples, encompassing the construction of a CM cell atlas, cell differentiation trajectory reconstruction, cell-cell interaction prediction, identification of cluster-specific transcription factor regulons, and assessment of tumor cell heterogeneity. Validation of scRNA-seq results was conducted through hematoxylin-eosin staining, multiplex immunofluorescence, cellular experiments, and a public database. This study profiled a total of 86,741 cells and identified 13 distinct cell sub-populations based on gene expression. Mesenchymal cells predominated in CM tissues, with high expression of calretinin. Findings from scRNA-seq analysis demonstrated that cardiac endothelial cells undergo endothelial-to-mesenchymal transition (EndoMT), giving rise to mesenchymal-like CM cells. Moreover, hematoxylin-eosin staining and multiplex immunofluorescence revealed variations in the subtypes and functions of tumor-associated fibroblasts and mural cells across different CM morphologies (lobulated and villous). This study demonstrated that CM cells exhibit mesenchymal-like characteristics and their origin is linked to the EndoMT of cardiac endothelial cells. The subtypes of tumor-associated fibroblasts and mural cells contribute to the morphological diversity of CM.</p>

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Single-cell transcriptomics and multimodal molecular profiling revealed the oncogenesis and tumor microenvironment of cardiac myxoma

  • 期刊论文

  • 发表日期：

    2026年5月27日

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  • Xinyi Yu,
  • Yibo Shi,
  • Mingjie Xie,
  • Kailong Deng,
  • Zean Fu,
  • Shuang Hao,
  • Yu Pei,
  • Zhenxing Liang,
  • Longhui Guo,
  • Jia Li,
  • Jingchao Zhang,
  • Xinwei Han

摘要

This study investigates the distinct cellular composition of cardiac myxoma (CM), the pathways underlying its origin, and the mechanisms driving the development of diverse tumor morphologies. A comprehensive single-cell RNA sequencing (scRNA-seq) analysis was performed on five CM tissue samples and five normal atrial septum samples, encompassing the construction of a CM cell atlas, cell differentiation trajectory reconstruction, cell-cell interaction prediction, identification of cluster-specific transcription factor regulons, and assessment of tumor cell heterogeneity. Validation of scRNA-seq results was conducted through hematoxylin-eosin staining, multiplex immunofluorescence, cellular experiments, and a public database. This study profiled a total of 86,741 cells and identified 13 distinct cell sub-populations based on gene expression. Mesenchymal cells predominated in CM tissues, with high expression of calretinin. Findings from scRNA-seq analysis demonstrated that cardiac endothelial cells undergo endothelial-to-mesenchymal transition (EndoMT), giving rise to mesenchymal-like CM cells. Moreover, hematoxylin-eosin staining and multiplex immunofluorescence revealed variations in the subtypes and functions of tumor-associated fibroblasts and mural cells across different CM morphologies (lobulated and villous). This study demonstrated that CM cells exhibit mesenchymal-like characteristics and their origin is linked to the EndoMT of cardiac endothelial cells. The subtypes of tumor-associated fibroblasts and mural cells contribute to the morphological diversity of CM.