脉管畸形相关信号通路和分子遗传学研究进展  

Advances in signaling pathways and molecular genetics of vascular malformations

作　　者：沈禹辰 王德明[1] 范新东[1] Shen Yuchen;Wang Deming;Fan Xindong(Department of Interventional Therapy,Shanghai Ninth People's Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200011,China)

机构地区：[1]上海交通大学医学院附属第九人民医院介入科,上海200011

出　　处：《血管与腔内血管外科杂志》2021年第6期716-722,共7页Journal of Vascular and Endovascular Surgery

基　　金：国家自然科学基金(81871458);上海交通大学医学院附属第九人民医院临+计划(JYLJ201801)。

摘　　要：脉管性疾病可分为血管肿瘤和脉管畸形两大类。脉管畸形作为一类先天性疾患,不但会给患者的生活质量造成严重影响,也为临床医师的临床诊治带来严峻的挑战。脉管畸形的传统疗法包括硬化治疗、介入栓塞、手术治疗、脉冲染料激光治疗等。随着分子遗传学的快速发展和分子生物学研究的逐渐深入,脉管畸形的发生机制和所涉及的通路也逐渐明朗,其中主要的是:磷脂酰肌醇3-激酶/蛋白激酶B/哺乳动物雷帕霉素靶蛋白和鼠肉瘤病毒基因/快速增长型纤维肉瘤/促分裂素原活化蛋白激酶激酶/细胞外调节蛋白激酶信号通路。近年来,基于这些通路所研制的靶向药物的问世也为脉管畸形的治疗提供了新的方法。Vascular anomalies could be divided into vascular tumors and vascular malformations.As congenital disorder,vascular malformation not only has serious impact on patient's quality of life,but also poses serious challenges to clinicians.Traditional therapies for vascular malformations include sclerotherapy,interventional embolization,surgery and pulsed dye laser therapy.With the rapid development of molecular genetics and the deepening of molecular biology researches,the mechanism of vascular malformation and involved pathways gradually become clear,of which the main ones are phosphoinositide 3-kinase/protein kinase B/mammalian target of rapamycin and rat sarcoma/rapidly accelerated fibrosarcoma/mitogen-activated protein kinase kinase/extracellular signal-regulated kinase signaling pathways.Recently,the coming out of targeted drugs based on these pathways also provided new ideas for the treatment of vascular malformations.

关 键 词：脉管性疾病 脉管畸形 信号通路 

分 类 号：R543[医药卫生—心血管疾病]