Plastic Surgery Education
Advances in the genetics and precision targeted therapy for arteriovenous malformations and related syndromes
Zhang Hao, Hua Chen, Lin Xiaoxi
Published 2023-07-25
Cite as Chin J Plast Surg, 2023, 39(7): 788-794. DOI: 10.3760/cma.j.cn114453-20210929-00396
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.
Key words:
Arteriovenous malformation; Syndromes; Genetics; Targeted therapy; Medication
Contributor Information
Zhang Hao
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China.
Hua Chen
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China.
Lin Xiaoxi
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China.
