Advances in the genetics and precision targeted therapy for arteriovenous malformations and related syndromes

VernacularTitle:动静脉畸形及相关综合征遗传学精准靶向治疗
Author: Hao ZHANG ¹ ; Chen HUA ; Xiaoxi LIN
Author Information

1. 上海交通大学医学院附属第九人民医院整复外科，上海　200011
Keywords: Arteriovenous malformation; Syndromes; Genetics; Targeted therapy; Medication
From: Chinese Journal of Plastic Surgery 2023;39(7):788-794
CountryChina
Language:Chinese
Abstract: Arteriovenous malformation (AVM) is a congenital high-flow vascular malformation. It is the most aggressive and difficult type of vascular malformation. At present, conventional treatment methods based on interventional embolization and surgical resection have limited efficacy, and the lesions are very likely to recur. Moreover, conventional treatments are extremely difficult to treat complex and diffuse lesions, with a high complication rate. Therefore, based on the research basis of genetics and pathogenesis, accelerating the research of precision targeted therapy is a top priority in this field. In this article, the causative genes of AVM and its related syndromes were examined. The functional effects, pathophysiology changes and potential therapeutic targets of KRAS, EphB4, MAP2K1, RASA-1 and related pathways RAS/RAF/MAPK were summarized, and the clinical application of the existing targeted drug trametinib was analyzed, hoping to provide a theoretical basis and reference for the precise targeted therapy of AVM.