How we approach the use of sirolimus and new agents: Medical therapy to treat vascular anomalies

Abstract

Vascular anomalies (VAs) are a heterogeneous group of primarily congenital tumors and malformations. The International Society for the Study of Vascular Anomalies (ISSVA) has developed a standard classification of these disorders, creating a uniform approach to their diagnosis. Recent discoveries evaluating the genetic causes of VAs have revealed that they are due to mutations in cancer pathways, including the PI3K/AKT/mTOR and RAS/MAPK/MEK pathways. These discoveries have led to improved phenotype-genotype correlation and have expanded medical therapy for this group of unique disorders.

Keywords: AKT inhibitor; MEK inhibitors; PIK3CA inhibitor; sirolimus; thalidomide; vascular anomalies.