Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.

ABSTRACT:

Purpose

Somatic activating variants in the PI3K-AKT pathway cause vascular malformations with and without overgrowth. We previously reported an individual with capillary and lymphatic malformation harboring a pathogenic somatic variant in PIK3R1, which encodes three PI3K complex regulatory subunits. Here, we investigate PIK3R1 in a large cohort with vascular anomalies and identify an additional 16 individuals with somatic mosaic variants in PIK3R1.

Methods

Affected tissue from individuals with vascular lesions and overgrowth recruited from a multisite collaborative network was studied. Next-generation sequencing targeting coding regions of cell-signaling and cancer-associated genes was performed followed by assessment of variant pathogenicity.

Results

The phenotypic a

SUBMITTER: Cottrell CE 

PROVIDER: S-EPMC8486672 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature