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Semin intervent Radiol 2017; 34(03): 233-238
DOI: 10.1055/s-0037-1604296
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies

Ha-Long Nguyen
1   Laboratory of Human Molecular Genetics, de Duve Institute, University of Louvain (UCL), Brussels, Belgium
,
Laurence M. Boon
1   Laboratory of Human Molecular Genetics, de Duve Institute, University of Louvain (UCL), Brussels, Belgium
2   Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, University of Louvain (UCL), Brussels, Belgium
,
Miikka Vikkula
1   Laboratory of Human Molecular Genetics, de Duve Institute, University of Louvain (UCL), Brussels, Belgium
2   Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, University of Louvain (UCL), Brussels, Belgium
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Publikationsdatum:
11. September 2017 (online)

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Abstract

Vascular anomalies arise as a consequence of improper development and maintenance of the vasculature. Our knowledge on the pathophysiological bases of vascular anomalies has skyrocketed during the past 5 years. It is becoming clear that common intracellular signaling pathways are often activated by mutations, causing endothelial cell dysfunction. These mutations cause hyperactivation of two major intracellular signaling pathways that may be controlled by inhibitors developed for cancer treatment. Although we do not know yet all the downstream effects, it has become evident that normalization of the abnormal signaling is an interesting target for therapy. This is a major paradigm change, as developmental malformations were considered to be inert to any molecular treatment.

Keywords

vascular malformations - mutations - interventional radiology