A Primer on a Comprehensive Genetic Approach to Vascular Anomalies.

Alexandra J Borst,Denise M Adams,Taizo A Nakano,Francine Blei,Jessica Duis

doi:10.3389/fped.2020.579591

Abstract

The field of vascular anomalies has grown tremendously in the last few decades with the identification of key molecular pathways and genetic mutations that drive the formation and progression of vascular anomalies. Understanding these pathways is critical for the classification of vascular anomalies, patient care, and development of novel therapeutics. The goal of this review is to provide a basic understanding of the classification of vascular anomalies and knowledge of their underlying molecular pathways. Here we provide an organizational framework for phenotype/genotype correlation and subsequent development of a diagnostic and treatment roadmap. With the increasing importance of genetics in the diagnosis and treatment of vascular anomalies, we highlight the importance of clinical geneticists as part of a comprehensive multidisciplinary vascular anomalies team.

Highlights

Vascular anomalies encompass both vascular malformations and vascular tumors [1]
The goal of this review is to provide teams taking care of children and adults with vascular anomalies an overview of the molecular pathways involved in disease pathogenesis and an organizational framework based on the current classification system that encompasses knowledge of their genetic and molecular etiologies
Mammalian target of rapamycin signaling is initiated in the phosphoinositide 3-kinase (PI3K)/AKT pathway involved in cell cycle regulation and often implicated in patients with vascular anomalies and overgrowth who have somatic mutations in PIK3CA

Summary

A Primer on a Comprehensive Genetic Approach to Vascular Anomalies

The field of vascular anomalies has grown tremendously in the last few decades with the identification of key molecular pathways and genetic mutations that drive the formation and progression of vascular anomalies. Understanding these pathways is critical for the classification of vascular anomalies, patient care, and development of novel therapeutics. The goal of this review is to provide a basic understanding of the classification of vascular anomalies and knowledge of their underlying molecular pathways. With the increasing importance of genetics in the diagnosis and treatment of vascular anomalies, we highlight the importance of clinical geneticists as part of a comprehensive multidisciplinary vascular anomalies team

INTRODUCTION

Findings

DISCUSSION