Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

The Ser and Thr kinase AKT, also known as protein kinase B (PKB), was discovered 25
years ago and has been the focus of tens of thousands of studies in diverse fields of biology …

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal
naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic …

Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …

PIK3CA is one of the most commonly mutated genes in solid cancers. PIK3CA mutations are
also found in benign overgrowth syndromes, collectively known as PIK3CA-related …

Abstract Phosphoinositide 3-kinases (PI3Ks) play a central role in tumourigenesis with
recurrent activating mutations of its p110α subunit (PIK3CA) identified in several tumours …

Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of …

The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …

Somatic mutations in TEK, the gene encoding endothelial cell tyrosine kinase receptor TIE2,
cause more than half of sporadically occurring unifocal venous malformations (VMs). Here …

Somatic activating mutations in the phosphatidylinositol‐3‐kinase/AKT/mTOR pathway
underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme …