Vascular malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and mixed malformations, according to the type of affected vessels. Until a few years ago, treatment options were limited to sclerotherapy and/or surgery. Since, it has been demonstrated that the majority of vascular malformations are caused by inherited or somatic mutations in various genes. These mutations lead to hyperactivity of two major signaling pathways: the RAS/mitogen-activated protein kinase and the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin pathways. These discoveries paved the way for the development and testing of targeted molecular inhibitors as therapies for vascular anomalies via repurposing of anticancer drugs.

根据受影响的血管类型，血管畸形可分为毛细血管，淋巴，静脉，动静脉和混合畸形。直到几年前，治疗选择还仅限于硬化疗法和/或手术。从那以后，已经证明大多数血管畸形是由各种基因中的遗传突变或体细胞突变引起的。这些突变导致两个主要信号通路的过度活跃：RAS /促分裂原激活的蛋白激酶和磷脂酰肌醇3-激酶/蛋白激酶B /雷帕霉素通路的哺乳动物靶标。这些发现为通过抗癌药物的重新开发来开发和测试靶向分子抑制剂作为血管异常疗法铺平了道路。