New and Emerging Targeted Therapies for Vascular Malformations

An Van Damme; Emmanuel Seront; Valérie Dekeuleneer; Laurence M. Boon; Miikka Vikkula


Am J Clin Dermatol. 2020;21(5):657-668. 

In This Article


Several insights have improved the outlook and treatment possibilities for patients with vascular malformations in recent years. Consensus regarding proper classification and terminology has permitted correct diagnosis and treatment guidance. Furthermore, the elucidation of underlying genetic and molecular mechanisms has led to better pathophysiological understanding of these lesions and has paved the way for the use of targeted treatments. Whereas vascular malformations historically were treated by surgery and/or embolization, targeted drugs are currently under investigation, based on the underlying cellular pathways involved. Medical treatment will likely be an effective addition to the therapeutic possibilities for these often difficult-to-treat entities.

The mTOR inhibitor sirolimus is the most extensively studied drug in this context so far. Promising results from several phase I and II prospective studies and from retrospective case series have led to a phase III clinical trial (VASE) that is currently underway in Europe. Evidence for the successful use of other targeted compounds in other indications, such as the PIK3CA inhibitor alpelisib, the MEK inhibitor trametinib, and the monoclonal anti-VEGF antibody bevacizumab is also accumulating, but needs further careful study.