RESUMEN
@#Hemangiomas and vascular malformations are common clinical diseases. According to their clinical and imaging characterizations, the International Society for the Study of Vascular Anomalies (ISSVA) has systematically classified infantile hemangioma and vascular malformations, and the classification has been widely recognized and applied. To date, most vascular malformations involve the following important signaling pathways: PI3K/Akt/mTOR and RAS/MAPK/ERK. This discovery has major impacts on the diagnosis and treatment of vascular malformations including the following: the understanding of the biology of vascular malformations has been increased; the understanding of vascular malformations based on genotype has been refined; and the development of targeted drugs for the treatment of vascular malformations has been promoted. Despite facing many challenges, with the development of gene sequencing, molecular biology and imaging technology, the relevance of vascular malformation classification and the accuracy of diagnosis are improving, and this is accompanied by innovations in surgical treatment and sclerotherapy, interventional embolization, and continuous progress in targeted therapy. At present, investigations on vascular malformations are mostly retrospective clinical studies or low-level clinical trials. The purpose of this paper is to review the literature on the treatment of infantile hemangioma, lymphatic malformation, venous malformation and arteriovenous malformation and to review the research progress in evidence-based treatment of infantile hemangioma and vascular malformation.
RESUMEN
@#The etiology and pathogenesis of hemangiomas and vascular malformations are still unclear and face many challenges in terms of treatment. This article focuses on the etiology and genetic mechanism of common vascular tumors (such as infantile hemangiomas, congenital hemangioma and pyogenic granuloma) and vascular abnormalities (such as sporadic venous malformations, blue rubber bleb nevus syndrome, hereditary cutaneomucosal venous malformations, glomuvenous malformations, verrucous venous malformations, lymphatic malformations, and arteriovenous malformations). Some gene mutations have been identified and established. Several mutations in key proteins in the signaling pathways of endothelial cells (ECs) have been shown to play a major role in the pathogenesis of vascular abnormalities. Mutations in PIK3CA and G-protein coupled receptors were most frequently identified. The detection of genetic or somatic gene mutations is important for elucidating the underlying molecular mechanisms and developing effective therapeutic approaches.