AUTHOR=Kane Gavin , Fernandez-Pineda Israel 

TITLE=Targeted therapies for vascular malformations

JOURNAL=Frontiers in Medicine

VOLUME=Volume 11 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2024.1446046

DOI=10.3389/fmed.2024.1446046

ISSN=2296-858X

ABSTRACT=Targeted medical therapies for the treatment of vascular malformations is an exciting and evolving area of research. As the identification of specific causative genetic mutations involved in vascular malformations becomes more accessible and inexpensive, the development of targeted therapies to address these genetic anomalies becomes all the more enticing. It is an excellent example of the potential of translational research where basic science discoveries are translated to clinical practice from 'bench to bedside'. In this mini-review we aim to synopsise some of the recent studies published in this area with specific focus on the paediatric population. We also aim to highlight the growing demand for future research in the field to elucidate further the optimum duration of treatments, strategies for discontinuation, potential for combination of therapies and the effects of prolonged use of these medications.PIK3CA-Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha TEK-TEK Receptor Tyrosine Kinase (also called TIE2 gene) KRAS= Kristen Rat Sarcoma Viral oncogene BRAF= v-raf murine sarcoma viral oncogene homolog B1 NRAS= neuroblastoma RAS viral oncogene homolog. CLOVES-Congenital lipomatous overgrowth, vascular malformations, epidermal nevi and skeletal anomalies