Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development

The vascular system plays a crucial role in maintaining homeostasis, ensuring the supply of oxygen and nutrients to tissues, while facilitating the removal of metabolic waste. Additionally, it contributes to immune defense, temperature regulation, and the transport of hormones and signaling molecules. Vascular anomaly (VA) arises due to developmental abnormalities or functional defects in the vessels. This review describes venous malformations (VM), a rare disorder predominantly caused by somatic mutations. Advances in recent research have substantially improved our understanding of the molecular mechanisms underlying these malformations, largely through the identification of their genetic origins and the study of animal models and endothelial cells derived from patients. Most of the somatic mutations associated with venous malformations affect genes within oncogenic growth factor signaling pathways, making it possible to repurpose certain cancer therapies to treat these VAs. This article summarizes the key molecular findings and explores emerging therapeutic strategies aimed at novel targets.