Advancement of genetics and target therapy of extracranial arteriovenous malformation

VernacularTitle:颅外动静脉畸形的遗传学与靶向治疗研究进展
Author: Hechen JIA ¹ ; Yunbo JIN ; 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　200011
Keywords: Extracranial arteriovenous malformation; Genetics; Target therapy; Proteomics
From: Chinese Journal of Plastic Surgery 2020;36(5):571-576
CountryChina
Language:Chinese
Abstract: Extracranial arteriovenous malformation (AVM) is a high-flow vascular malformation, of which the first-line therapies including surgery and ethanol embolization are of high risk. Besides, the outcomes of complex cases are usually poor. Therefore, it is urgent to accelerate the development of target therapy for extracranial AVM, based on the discoveries in pathogenesis and genetics. Breakthroughs have been made on the genetic research of extracranial AVM, as somatic mutations of RAS/RAF/MAPK signaling pathway genes have been found in this entity. Genetic polymorphism and epigenetics might also play important role in the development of the disease. Several anti-angiogenic treatment emerge therapeutic effects on extracranial AVM, meanwhile high-throughput proteomics ignites the sparks of precision medicine. This review focuses on the advancement in the pathogenesis, genetics and target therapy related to extracranial arteriovenous malformations.