Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.

ABSTRACT:

Objectives

To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS).

Study design

We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children's Hospital who had an isolated LM (n = 17), KTS (n = 21), fibro-adipose vascular anomaly (n = 8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (n = 33), the disorder for which we first identified somatic PIK3CA mutations. We

SUBMITTER: Luks VL 

PROVIDER: S-EPMC4498659 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature