Expression and clinical significance of H3K27me3 in hemangioma and vascular malformation

Abstract

Objective To investigate the expression and clinical significance of H3K27me3 in vascular hemangioma and malformation. Methods Paraffin-embedded tissue blocks from 244 patients with hemangioma and vascular malformation admitted in our hospital from January 2010 and June 2021 were collected. The expression levels of H3K27me3 and smooth muscle actin (SMA) in vascular endothelial and perivascular cells were detected by immunohistochemical SP assay, and its expression differences between hemangioma and vascular malformation was analyzed. Bioinformatics analysis was further applied to explore its potential role in anigodysplasia in combination of the results of SMA immunostaining. Receiver operating characteristic (ROC) curve was drawn to evaluate its diagnostic value in differentiation of hemangioma and vascular malformation. Results In vascular hemangioma, H3K27me3 expression was mainly restricted to vascular endothelial cells, with an expression rate of 50%~90%. However, in vascular malformations, it was expressed in vascular endothelial cells, with an expression rate of 30%~50%, and lost in perivascular cells. There were top 10 endothelium restricted genes derived from GSE21212 dataset based on concerning literatures. According to ChIP-seq data from ENCODE website, H3K27me3 was enriched in the SOX2 promoter of different endothelium lineages, and the molecular interaction of H3K27me3 and SOX2 may be associated with vessel development and differentiation. Conclusion The expression of H3K27me3 in vascular endothelial cells can be used as a candidate marker to distinguish hemangioma and vascular malformation. However, its expression in infantile hemangioma is immunologically heterogeneous.

Keywords

• h3k27me3
• vascular lesions
• epigenetics
• histone
• methylation