Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

ABSTRACT: Vascular malformations include various disorders characterized by morphological, structural and/or functional alterations of blood and lymph vessels. Most are sporadic, due to somatic mutations. Here, we report a cohort of patients with sporadic and/or unifocal vascular malformations, in whom we carried out next generation sequencing analysis of a panel of genes associated with vascular malformations. The 115 patients analyzed were from different clinical centres. In 37 patients (32%), we found pathogenic mutations: most of these were gain-of-function mutations in PIK3CA (18%, 21/115) and TEK (13/115, 11%). We also found mutations in GNAQ, CCM2 and PTEN. Identifying pathogenic variants in patients with vascular malformations can help improve management, particularly in cases with activatin

SUBMITTER: Paolacci S 

PROVIDER: S-EPMC7690376 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature