Perspectives on molecular diagnosis and targeted therapy for complex vascular malformations in pediatrics.
10.3760/cma.j.cn112150-20220930-00940
- Author:
Bin ZHANG
1
;
Rui HE
2
;
Li SONG
3
;
Lin MA
2
Author Information
1. Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China Department of Dermatology, Children's Hospital Affiliated of Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450000, China.
2. Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
3. Department of Dermatology, Children's Hospital Affiliated of Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450000, China.
- Publication Type:Journal Article
- MeSH:
Humans;
Child;
Cell Proliferation;
Vascular Malformations/therapy*
- From:
Chinese Journal of Preventive Medicine
2023;57(9):1481-1488
- CountryChina
- Language:Chinese
-
Abstract:
Vascular malformations are due to abnormal development of blood and/or lymphatic vessels during embryonic life without endothelial cell proliferation. Most of the previous treatments were symptomatic methods as surgery and sclerotherapy because the pathogenic mechanism was not clearly understood. With advances in molecular biology, the pathogenesis of vascular malformations is thought to be related to inherited and/or somatic mutations that eventually activate the PI3K/ATK/mTOR, Ras/Raf/MEK/ERK pathways. Also, related studies have promoted the use of targeted inhibitors. This article provides a review of current causative genes and targeted drugs for pediatric vascular malformations, aiming to provide a basis for promoting accurate molecular diagnosis and precision targeted therapy for these diseases.
