论文部分内容阅读
脉管异常根据其临床和组织学特征分为2大类：脉管肿瘤和脉管畸形。随着测序技术的发展，近年来关于脉管畸形体细胞突变的文献报道逐渐增多。脉管畸形中体细胞突变的发现改变了大家认识和诊断疾病的模式，突变及其通路为开发新的药物治疗提供了潜在的靶点。该文对毛细血管畸形、淋巴管畸形、静脉畸形、动静脉畸形、脉管畸形综合征等常见脉管畸形与其综合征的遗传分子学改变的研究进展进行综述。“,”Vascular anomalies are classified by their clinical and histologic characteristics into 2 broad categories: tumors or malformations. With the development of next-generation sequencing technologies, there have been more and more literatures on somatic mutations in vascular malformations in recent years. Identification of somatic mutations in vascular malformations is changing the paradigm by which lesions are diagnosed and understood. Mutations and their pathways are providing potential targets for the development of novel pharmacotherapy.This review summarizes progress on the molecular genetic alteration of common vascular malformations and their syndrome research, such as capillary malformations, lymphatic malformations, venous malformations, arteriovenous malformations, vascular malformations syndrome and so on.