Etiology and Genetics of Congenital Vascular Lesions

Angela Queisser; Laurence M Boon; Miikka Vikkula

doi:10.1016/j.otc.2017.09.006

Etiology and Genetics of Congenital Vascular Lesions

Otolaryngol Clin North Am. 2018 Feb;51(1):41-53. doi: 10.1016/j.otc.2017.09.006.

Authors

Angela Queisser¹, Laurence M Boon², Miikka Vikkula³

Affiliations

¹ Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), Brussels B-1200, Belgium.
² Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), Brussels B-1200, Belgium; Division of Plastic Surgery, Center for Vascular Anomalies, Cliniques Universitaires St Luc, Avenue Hippocrate 10, B-1200 Brussels, Belgium.
³ Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), Brussels B-1200, Belgium. Electronic address: miikka.vikkula@uclouvain.be.

PMID: 29217067
DOI: 10.1016/j.otc.2017.09.006

Abstract

The detection of somatic, activating genetic mutations to underlie development of vascular tumors and malformations led to a better understanding of their pathophysiology. Proteins encoded by the detected mutated genes activate the two major signaling pathways, also involved in cancer: the RAS/MAPK/ERK pathway and/or the PI3K/AKT/mTOR pathway. This gives a strong basis for studies to repurpose cancer therapeutics to patients with vascular tumors and malformations.

Keywords: Gene; Inhibitor; Malformation; Mutation; Rapamycin; Signaling pathway; Vascular.

Publication types

Review

MeSH terms

Arteriovenous Malformations / etiology
Arteriovenous Malformations / genetics*
Capillaries / abnormalities
Head and Neck Neoplasms / etiology
Head and Neck Neoplasms / genetics*
Hemangioma / congenital
Hemangioma / genetics*
Humans
Lymphatic Abnormalities / genetics*
Mutation
Signal Transduction / genetics*