Progress in the genetics research of infantile hemangioma and vascular malformations

Abstract

The etiology and pathogenesis of hemangiomas and vascular malformations are still unclear and face many challenges in terms of treatment. This article focuses on the etiology and genetic mechanism of common vascular tumors (such as infantile hemangiomas, congenital hemangioma and pyogenic granuloma) and vascular abnormalities (such as sporadic venous malformations, blue rubber bleb nevus syndrome, hereditary cutaneomucosal venous malformations, glomuvenous malformations, verrucous venous malformations, lymphatic malformations, and arteriovenous malformations). Some gene mutations have been identified and established. Several mutations in key proteins in the signaling pathways of endothelial cells (ECs) have been shown to play a major role in the pathogenesis of vascular abnormalities. Mutations in PIK3CA and G-protein coupled receptors were most frequently identified. The detection of genetic or somatic gene mutations is important for elucidating the underlying molecular mechanisms and developing effective therapeutic approaches.

Keywords

• hemangioma
• venous malformation
• lymphatic malformations
• arteriovenous malformation
• endothelial cells
• gene mutation
• signaling pathway
• signaling pathway inhibitor