婴幼儿血管瘤与脉管畸形的循证治疗研究进展  

Progress in evidencebased research on the clinical treatment of infantile hemangioma and vascular malformations

作　　者：郑家伟[1] 赵泽亮[1] ZHENG Jiawei;ZHAO Zeliang(Department of Oromaxillofacial Head and Neck Oncology,Shanghai Ninth People’s Hospital,College of Stomatology,Shanghai Jiao Tong University School of Medicine/National Clinical Re-search Center for Oral Diseases/Shanghai Key Laboratory of Stomatology&Shanghai Research Institute of Stomatology,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·口腔医学院口腔颌面-头颈肿瘤科,国家口腔疾病临床医学研究中心,上海市口腔医学重点实验室,上海市口腔医学研究所,上海200011

出　　处：《口腔疾病防治》2021年第11期721-732,共12页Journal of Prevention and Treatment for Stomatological Diseases

基　　金：国家自然科学基金项目(81771087)。

摘　　要：血管瘤及脉管畸形是临床上常见的疾病,根据临床及影像学表现,国际脉管异常研究学会(International Society for the Study of Vascular Anomalies,ISSVA)对其进行了详细分类,得到广泛认可和应用。迄今为止,大多数脉管畸形涉及PI3K/Akt/mTOR和RAS/MAPK/ERK这两条信号通路,这一发现对脉管畸形的诊疗产生了3个重大影响:增强了对脉管畸形生物学的理解;细化了基于基因型的脉管畸形分类;促进了治疗脉管畸形靶向药物的研发。随着基因测序、分子生物学和放射成像技术的发展,脉管畸形分类的相关性和诊断的准确性不断提高,硬化治疗、介入栓塞及靶向疗法取得了不断进步。目前,关于脉管畸形的研究多为回顾性临床研究或者低级别临床试验。本文旨在全面回顾婴幼儿血管瘤、淋巴管畸形、静脉畸形和动静脉畸形治疗的文献资料,对婴幼儿血管瘤与脉管畸形循证治疗研究进展作一述评。Hemangiomas and vascular malformations are common clinical diseases.According to their clinical and imaging characterizations,the International Society for the Study of Vascular Anomalies(ISSVA)has systematically classified infantile hemangioma and vascular malformations,and the classification has been widely recognized and applied.To date,most vascular malformations involve the following important signaling pathways:PI3K/Akt/mTOR and RAS/MAPK/ERK.This discovery has major impacts on the diagnosis and treatment of vascular malformations including the following:the understanding of the biology of vascular malformations has been increased;the understanding of vascular malformations based on genotype has been refined;and the development of targeted drugs for the treatment of vascular malformations has been promoted.Despite facing many challenges,with the development of gene sequencing,molecular biology and imaging technology,the relevance of vascular malformation classification and the accuracy of diagnosis are improving,and this is accompanied by innovations in surgical treatment and sclerotherapy,interventional embolization,and continuous progress in targeted therapy.At present,investigations on vascular malformations are mostly retrospective clinical studies or lowlevel clinical trials.The purpose of this paper is to review the literature on the treatment of infantile hemangioma,lymphatic malformation,venous malformation and arteriovenous malformation and to review the research progress in evidencebased treatment of infantile hemangioma and vascular malformation.

关 键 词：婴幼儿血管瘤 静脉畸形 淋巴管畸形 动静脉畸形 基因突变 信号通路抑制剂 治疗 循证研究 

分 类 号：R78[医药卫生—口腔医学]