Vascular malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and mixed malfor- mations, according to the type of affected vessels. Until a few years ago, treatment options were limited to sclerotherapy and/or surgery. Since, it has been demonstrated that the majority of vascular malfor- mations are caused by inherited or somatic mutations in various genes. These mutations lead to hyperac- tivity of two major signaling pathways: the RAS/ mitogen-activated protein kinase and the phosphati- dylinositol 3-kinase/protein kinase B/mammalian target of rapamycin pathways. These discoveries paved the way for the development and testing of targeted molecular inhibitors as therapies for vascular anomalies via repurposing of anticancer drugs.
Dekeuleneer, V., Seront, E., Van Damme, A., Boon, L., & Vikkula, M. (2020). Theranostic advances in vascular malformations. The Journal of Investigative Dermatology, 140(4), 756. https://doi.org/10.1016/j.jid.2019.10.001 (Original work published 2020)