Recent advances in the study of somatic mutations in vascular malformations
10.3760/cma.j.issn.114453-20190919-00278
- VernacularTitle:脉管畸形的体细胞突变研究进展
- Author:
Jiangyuan ZHOU
1
;
Kaiying YANG
;
Yi JI
Author Information
1. 四川大学华西医院小儿外科，成都 610041
- Keywords:
Vascular malformations;
Lymphatic abnormalities;
Mutation;
Genetic testing
- From:
Chinese Journal of Plastic Surgery
2020;36(12):1395-1399
- CountryChina
- Language:Chinese
-
Abstract:
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.
