New and Emerging Targeted Therapies for Vascular Malformations
An Van Damme,Emmanuel Seront, Valerie Dekeuleneer, Laurence M. Boon, Miikka Vikkula
Extensive insight into the genetic origin and molecular mechanism of development has been accumulated over the last 20 years. Since the discovery of the first somatic mutations in a vascular anomaly 10 years ago, it is now recognized that they are perhaps all caused by inherited or somatic mutations in genes that hyperactivate two major intracellular signal-ing pathways: the RAS/MAPK/ERK and/or the phosphatidylinositol 3 kinase (PIK3)/protein kinase B/mammalian target of rapamycin (mTOR) pathway. Repurposing of cancer drugs has become a major focus in this rapidly evolving field.