Centre for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc; European Reference Network for Rare Multisystemic Vascular Diseases Vascular Anomalies European Reference Centre, Brussels, Belgium.
Centre for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc; European Reference Network for Rare Multisystemic Vascular Diseases Vascular Anomalies European Reference Centre, Brussels, Belgium; Institut Roi Albert II, Department of Medical Oncology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
J Invest Dermatol. 2020 Apr;140(4):756-763. doi: 10.1016/j.jid.2019.10.001.
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.
血管畸形根据受累血管的类型可分为毛细血管畸形、淋巴管畸形、静脉畸形、动静脉畸形和混合畸形。直到几年前，治疗方案还仅限于硬化治疗和/或手术。此后，已经证明大多数血管畸形是由各种基因的遗传或体细胞突变引起的。这些突变导致两种主要信号通路的过度活跃：RAS/丝裂原活化蛋白激酶和磷脂酰肌醇 3-激酶/蛋白激酶 B/雷帕霉素哺乳动物靶蛋白通路。这些发现为通过重新利用抗癌药物开发和测试针对血管异常的靶向分子抑制剂作为治疗方法铺平了道路。
