This was a prospective cohort study of eighteen patients with large and debilitating vascular
malformations with one or more major systemic complications. In all patients, we discovered …

Objective: The goal of this report is to describe, through a series of 5 cases, the clinical
response and safety of alpelisib (BYL719) use in children and adults with PIK3CA-related …

Vascular malformations are inborn errors of vascular morphogenesis and consist of
localized networks of abnormal blood and/or lymphatic vessels with weak endothelial cell …

Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-
function mutation of PIK3CA or TEK, an endothelial transmembrane receptor signaling …

Low-flow vascular malformations are congenital overgrowths composed by abnormal blood
vessels potentially causing pain, bleeding, and obstruction of different organs. These …

Low‐flow vascular malformations are congenital overgrowths composed of abnormal blood
vessels potentially causing pain, bleeding and obstruction of different organs. These …

Mosaic PIK3R1 variants have recently been demonstrated in patients with complex vascular
malformations and overgrowth in a syndrome resembling PIK3CA-related overgrowth …

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

Background PIK3CA-related overgrowth syndrome (PROS) include a heterogeneous group
of disorders characterized by segmental overgrowth secondary to somatic mosaic activating …

Vascular malformations are a complex and diverse group of disorders. They may enlarge
with time, impair quality of life, and even be fatal. While many are sporadic, others are part of …