The genetic basis of vascular anomalies.

Abstract

Historically vascular anomalies have been categorised based on their clinical and histological characteristics and are largely divided into two main groups, namely vascular tumours and vascular malformations.1 Although there are a few well recognised familial forms, the majority of vascular anomalies are sporadic. Recent advances in molecular genomics have demonstrated somatic mosaic mutations in affected tissues as the cause of the majority sporadic vascular anomalies. These somatic mutations in vascular anomalies commonly affected tyrosine kinase receptor signalling through the RAS or PIK3CA pathways.2 An update on the current understanding of the genetic basis of vascular anomalies is presented highlighting the implications for future classification and the potential for new targeted therapies.