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Emerging importance of molecular pathogenesis of vascular malformations in clinical practice and classifications

Pang, C; Lim, CS; Brookes, J; Tsui, J; Hamilton, G; (2020) Emerging importance of molecular pathogenesis of vascular malformations in clinical practice and classifications. Vascular Medicine , 25 (4) pp. 364-377. 10.1177/1358863X20918941. Green open access

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Abstract

Introduction: Vascular malformations occur during early vascular development resulting in abnormally formed vessels that can manifest as arterial, venous, capillary or lymphatic lesions or in combination, and include local tissue overdevelopment. Vascular malformations are largely caused by sporadic somatic gene mutations. This article aims to review and discuss current molecular signaling pathways and therapeutic targets for vascular malformations and to classify vascular malformations according to the molecular pathways involved. / Methods: A literature review was performed using Embase and Medline. Different MeSH terms were combined for the search strategy, with the aim of encompassing all studies describing the classification, pathogenesis and treatment of vascular malformations. / Results: Major pathways involved in the pathogenesis of vascular malformations are VEGF, Ras/Raf/MEK/ERK, Angiopoietin-TIE2, TGF- β and PI3K/AKT/mTOR. These pathways are involved in controlling cellular growth, apoptosis, differentiation and proliferation, and play a central role in endothelial cell signaling and angiogenesis. Many vascular malformations share similar aberrant molecular signaling pathways with cancers and inflammatory disorders. Therefore, selective anti-cancer agents and immunosuppressants may be beneficial in treating vascular malformations of specific mutations. The current classification systems of vascular malformations including the ISSVA classification are primarily observational and clinical, and are not based on the molecular pathways involved in the pathogenesis of the condition. / Conclusions: Several molecular pathways with potential therapeutic targets have been demonstrated to contribute to the development of various vascular anomalies. Classifying vascular malformations based on their molecular pathogenesis may improve treatment by determining the underlying nature of the condition and their potential therapeutic target.

Type: Article
Title: Emerging importance of molecular pathogenesis of vascular malformations in clinical practice and classifications
Open access status: An open access version is available from UCL Discovery
DOI: 10.1177/1358863X20918941
Publisher version: https://doi.org/10.1177/1358863X20918941
Language: English
Additional information: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
Keywords: vascular malformation, vascular biology, vascular anomalies, classification, molecular biology
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Surgery and Interventional Sci
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Surgery and Interventional Sci > Department of Surgical Biotechnology
URI: https://discovery.ucl.ac.uk/id/eprint/10096367
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