Theranostic Advances in Vascular Malformations

Valérie Dekeuleneer; Emmanuel Seront; An Van Damme; Laurence M Boon; Miikka Vikkula

doi:10.1016/j.jid.2019.10.001

Theranostic Advances in Vascular Malformations

J Invest Dermatol. 2020 Apr;140(4):756-763. doi: 10.1016/j.jid.2019.10.001.

Authors

Valérie Dekeuleneer¹, Emmanuel Seront², An Van Damme³, Laurence M Boon⁴, Miikka Vikkula⁵

Affiliations

¹ Centre for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc; European Reference Network for Rare Multisystemic Vascular Diseases Vascular Anomalies European Reference Centre, Brussels, Belgium.
² Centre for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc; European Reference Network for Rare Multisystemic Vascular Diseases Vascular Anomalies European Reference Centre, Brussels, Belgium; Institut Roi Albert II, Department of Medical Oncology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
³ Centre for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc; European Reference Network for Rare Multisystemic Vascular Diseases Vascular Anomalies European Reference Centre, Brussels, Belgium; Institut Roi Albert II, Department of Pediatric Hematology and Oncology, Cliniques universitaires Saint-Luc, Brussels, Belgium.
⁴ Centre for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc; European Reference Network for Rare Multisystemic Vascular Diseases Vascular Anomalies European Reference Centre, Brussels, Belgium; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
⁵ Centre for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc; European Reference Network for Rare Multisystemic Vascular Diseases Vascular Anomalies European Reference Centre, Brussels, Belgium; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium; Walloon Excellence in Lifesciences and Biotechnology, de Duve Institute, University of Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.

PMID: 32200879
DOI: 10.1016/j.jid.2019.10.001

Abstract

Vascular malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and mixed malformations, according to the type of affected vessels. Until a few years ago, treatment options were limited to sclerotherapy and/or surgery. Since, it has been demonstrated that the majority of vascular malformations are caused by inherited or somatic mutations in various genes. These mutations lead to hyperactivity of two major signaling pathways: the RAS/mitogen-activated protein kinase and the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin pathways. These discoveries paved the way for the development and testing of targeted molecular inhibitors as therapies for vascular anomalies via repurposing of anticancer drugs.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Disease Management*
Humans
Theranostic Nanomedicine / methods*
Vascular Malformations / therapy*