Zhang B, He R, Song L, Ma L
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.
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Zhonghua Yu Fang Yi Xue Za Zhi. 2023 Sep 6;57(9):1481-1488. doi: 10.3760/cma.j.cn112150-20220930-00940.
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.
血管畸形是由于胚胎期血管和/或淋巴管发育异常，而无内皮细胞增殖。由于发病机制尚不清楚，以前的大多数治疗方法都是如手术和硬化疗法等对症治疗方法。随着分子生物学的发展，血管畸形的发病机制被认为与遗传和/或体细胞突变有关，这些突变最终激活PI3K/ATK/mTOR、Ras/Raf/MEK/ERK通路。此外，相关研究推动了靶向抑制剂的应用。本文综述了儿童血管畸形的当前致病基因和靶向药物，旨在为促进这些疾病的精确分子诊断和精准靶向治疗提供依据。
