How we approach the use of sirolimus and new agents: Medical therapy to treat vascular anomalies
Kristin A. Shimano, Whitney Eng, Denise M. Adams
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.
Topics & Concepts
SirolimusMedicinePI3K/AKT/mTOR pathwayPhenotypeMAPK/ERK pathwayCancer therapyBioinformaticsMedical therapyGenotypeDiscovery and development of mTOR inhibitorsCancerOncologyInternal medicineSignal transductionGeneticsGeneBiologyVascular Malformations and HemangiomasVascular Malformations Diagnosis and TreatmentTuberous Sclerosis Complex Research