淋巴管畸形致病基因及靶向治疗的研究进展  

Research progress of pathogenic genes and targeted therapy for lymphatic malformations

作　　者：林熙 吴桂涛 刘珍银 Lin Xi;Wu Guitao;Liu Zhenyin(Department of Interventional Radiology and Vascular Anomalies,Guangzhou Women and Children's Medical Center,Guangzhou 510623,China)

机构地区：[1]广州市妇女儿童医疗中心介入血管瘤科,广州510623

出　　处：《中华小儿外科杂志》2025年第3期281-288,共8页Chinese Journal of Pediatric Surgery

基　　金：广州市妇女儿童医疗中心博士启动基金(2023BS027)。

摘　　要：淋巴管畸形是常见的良性低流量型脉管病变,影响患儿的外观及器官功能,其一线治疗方法是脉管内硬化治疗,但对于大范围且累及多器官的病灶治疗效果并不理想。近年来,国内外学者一直致力于淋巴管畸形的分子遗传学研究,并在动物疾病模型和患儿来源的淋巴内皮细胞中阐明潜在机制。引起淋巴管畸形的致病突变主要是PI3K-AKT-mTOR等编码致癌信号通路组分的持续激活,癌症的靶向治疗在淋巴管畸形中的应用也成为新的治疗策略和研究热点。本研究将针对淋巴管畸形分子机制及靶向治疗的最新研究进展进行综述。Lymphatic malformations are benign low-flow vascular disease that affect the appearance and organ function of children.The first-line treatment is intravascular sclerotherapy.However,the treatment effect is not ideal for large and multi-organ lesions.In recent years,genetics of lymphatic malformations and mechanisms in animal models and patient-derived lymphatic endothelial cells have been growingly studied.Most pathogenic mutations responsible for lymphatic malformations occur in genes encoding components of the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of the rapamycin(PI3K/Akt/mTOR)and other oncogenic signaling pathways.This has led to successful repurposing of some cancer targeted therapeutics to the treatment of lymphatic malformations.Therefore,this review summarizes the advanced progress in targeted therapy of lymphatic malformations based on the identified molecular pathways.

关 键 词：淋巴管畸形 靶向治疗 分子遗传学 

分 类 号：R725.5[医药卫生—儿科]