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Updated: Sep 19, 2025
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A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
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Genetic aspects of vascular malformations
Nicole Revencu1, Julien Coulie2, Laurence M Boon2
1Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, Brussels, Belgium; VASCERN VASCA European Reference Network.
Presse Medicale (Paris, France : 1983)
|May 31, 2025
Summary
Genetic discoveries have improved the understanding and treatment of vascular anomalies, including tumors and malformations. Research highlights key signaling pathways and the potential of precision medicine for these complex diseases.
Area of Science:
- Genetics
- Pathology
- Medical Science
Background:
- Vascular anomalies encompass a diverse range of conditions, including vascular tumors and malformations.
- Recent advancements in understanding their genetic underpinnings have transformed classification, management, and genetic counseling.
- Key signaling pathways like RAS/MAPK/ERK, PI3K/AKT/mTOR, and GPCR pathways are implicated in their development.
Purpose of the Study:
- To review the primary types of vascular malformations.
- To discuss the complexities of genetic testing and counseling for these conditions.
- To explore the future of precision medicine in treating vascular anomalies.
Main Methods:
- Literature review of genetic studies on vascular anomalies.
- Analysis of major signaling pathways involved in pathogenesis.
- Discussion of current challenges and future directions in genetic testing and precision medicine.
Main Results:
- Significant progress in identifying genetic causes of vascular anomalies.
- Established roles for RAS/MAPK/ERK, PI3K/AKT/mTOR, and GPCR pathways in disease development.
- Emerging therapeutic strategies leveraging genetic insights.
Conclusions:
- Genetic research has significantly advanced the field of vascular anomalies.
- Precision medicine holds promise for tailored treatments.
- Continued research is crucial for improving patient outcomes.
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