脉管异常的ISSVA分类概要及分子生物学研究进展

doi:10.19438/j.cjoms.2023.03.014

中国口腔颌面外科杂志 ›› 2023, Vol. 21 ›› Issue (3): 286-290.doi: 10.19438/j.cjoms.2023.03.014

脉管异常的ISSVA分类概要及分子生物学研究进展

李晓¹, 范新东^2,*, 郑家伟^3,*

1.上海交通大学医学院附属第九人民医院口腔第二门诊部,2.介入科,3.口腔颌面-头颈肿瘤科,上海交通大学口腔医学院,国家口腔医学中心,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

收稿日期:2022-11-10 修回日期:2022-12-02 出版日期:2023-05-20 发布日期:2023-08-16
通讯作者: 范新东,E-mail: fanxindong@aliyun.com;郑家伟,E-mail: davidzhnegjw@hotmail.com。^*共同通信作者
作者简介:李晓（1991-）,女,博士,E-mail: 1315771252@qq.com

Summary of ISSVA classification of vascular anomalies and review of literature in molecular biology

LI Xiao¹, FAN Xin-dong², ZHENG Jia-wei³

1. Second Dental Center, 2. Department of Interventional Therapy, 3. Department of Oromaxillofacial Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology; Shanghai Research Institute of Stomatology. Shanghai 200011, China

Received:2022-11-10 Revised:2022-12-02 Online:2023-05-20 Published:2023-08-16

摘要/Abstract

摘要： 脉管异常类疾病是一组疾病的总称,国际脉管异常研究学会（ISSVA）将其分为2大类：脉管肿瘤和脉管畸形。本文结合脉管异常类疾病的分子病理学表现,对其遗传学改变的最新研究成果加以总结。在球形静脉畸形中,突变的球蛋白可能通过与c-met的相互作用激活PI3K信号。此外,它们可能抑制TGF-β介导的平滑肌细胞分化,并诱导所谓的血管球细胞增殖。淋巴管畸形中的PIK3CA突变可能刺激VEGF-C或VEGFR3表达,诱导PIK3CA与细胞膜结合;或通过激活下游Akt/mTOR,促进细胞增殖、趋化性和血管生成。动静脉畸形中的RAS通路突变可能激活MEK/ERK信号,RAS激活可能诱导内皮细胞形态变化、出芽行为增加、血管管腔扩大以及动脉和静脉之间异常连接而不伴有细胞增殖。婴幼儿血管瘤中VEGFR2和TEM8突变导致VEGFR2、TEM8和整合素之间的相互作用增加,由此导致整合素/NFATc2/VEGFR1通路失活,导致VEGFR2磷酸化和内皮活化。

关键词: 静脉畸形, 淋巴管畸形, 婴幼儿血管瘤, 分子生物学

Abstract: Vascular abnormalities are the general name of a group of diseases, which are divided into two categories by the International Society for the Study of Vascular Anomalies(ISSVA): vascular tumors and vascular malformations. In this paper, the latest research results of genetic changes in vascular diseases were summarized in combination with their molecular pathological manifestations. In glomuvenous malformations, the mutant globulin may activate PI3K signal through interaction with c-met. In addition, they may inhibit TGF-β-mediating smooth muscle cell differentiation and induce proliferation of so-called vascular globular cells. The mutation of PIK3CA in lymphatic malformation may stimulate the expression of VEGF-C or VEGFR3, induce the combination of PIK3CA with cell membrane, or increase cell proliferation, chemotaxis and angiogenesis by activating downstream Akt/mTOR. Mutation of RAS pathway in AVM may activate MEK/ERK signal, and RAS activation may induce morphological changes of endothelial cells, increase of budding behavior, expansion of vascular lumen, and abnormal connection between arteries and veins without cell proliferation. Mutation of VEGFR2 and TEM8 in infantile hemangioma leads to increased interaction between VEGFR2, TEM8 and integrin, and the resulting inactivation of integrin/NFATc2/VEGFR1 pathway may lead to phosphorylation of VEGFR2 and endothelial activation.

Key words: Venous malformation, Lymphatic malformation, Infantile hemangioma, Molecular biology

中图分类号:

R739.8

李晓, 范新东, 郑家伟. 脉管异常的ISSVA分类概要及分子生物学研究进展[J]. 中国口腔颌面外科杂志, 2023, 21(3): 286-290.

LI Xiao, FAN Xin-dong, ZHENG Jia-wei. Summary of ISSVA classification of vascular anomalies and review of literature in molecular biology[J]. China J Oral Maxillofac Surg, 2023, 21(3): 286-290.

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脉管异常的ISSVA分类概要及分子生物学研究进展

Summary of ISSVA classification of vascular anomalies and review of literature in molecular biology

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