Abstract
Vascular anomalies arise as a consequence of improper development and maintenance
of the vasculature. Our knowledge on the pathophysiological bases of vascular anomalies
has skyrocketed during the past 5 years. It is becoming clear that common intracellular
signaling pathways are often activated by mutations, causing endothelial cell dysfunction.
These mutations cause hyperactivation of two major intracellular signaling pathways
that may be controlled by inhibitors developed for cancer treatment. Although we do
not know yet all the downstream effects, it has become evident that normalization
of the abnormal signaling is an interesting target for therapy. This is a major paradigm
change, as developmental malformations were considered to be inert to any molecular
treatment.
Keywords
vascular malformations - mutations - interventional radiology
