Lymphatic Malformations: Genetics, Mechanisms and Therapeutic Strategies

Lymphatic vessels maintain tissue fluid homeostasis by returning to blood circulation interstitial that has extravasated from the capillaries. They provide a trafficking route for cells of immune system, thus critically contributing surveillance. Developmental or functional defects in lymphatic vessels, their obstruction damage, lead accumulation tissues, resulting lymphedema. Here we discuss developmental anomalies called malformations and complex manifest as localized multifocal lesions vasculature, respectively. are rare diseases caused mostly somatic mutations can present with variable symptoms based upon size location composed fluid-filled cisterns channels. Substantial progress been made recently understanding molecular basis pathogenesis through identification genetic causes, combined elucidation underlying mechanisms animal disease models patient-derived endothelial cells. Most solitary cause occur genes encode components oncogenic growth factor signal transduction pathways. This led successful repurposing some targeted cancer therapeutics treatment anomalies. Apart act cell–autonomous drivers these anomalies, current evidence points superimposed paracrine contribute additional targets therapeutic intervention. Here, review advances new strategies on identified