Review
Theranostic Advances in Vascular Malformations

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Vascular malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and mixed malformations, 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 malformations are caused by inherited or somatic mutations in various genes. These mutations lead to hyperactivity of two major signaling pathways: the RAS/mitogen-activated protein kinase and the phosphatidylinositol 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.

Abbreviations

AE
adverse event
AKT
protein kinase B
AVM
arteriovenous malformation
CM
capillary malformation
EC
endothelial cell
ERK
extracellular signal–regulated kinase
HHT
hereditary hemorrhagic telangiectasia
LM
lymphatic malformation
MAPK
mitogen-activated protein kinase
MEK
MAPK/ERK kinase
mTOR
mammalian target of rapamycin
PI3K
phosphatidylinositol-3-kinase
PROS
PIK3CA-related overgrowth spectrum
VM
venous malformation

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