Congenital hemangioma: genetic pathogenesis and potential targeted therapy
10.3760/cma.j.cn114453-20210117-00027-1
- VernacularTitle:先天性血管瘤的遗传学研究进展及潜在药物治疗靶点
- Author:
Yishu WANG
1
;
Chen HUA
;
Xiaoxi LIN
Author Information
1. 上海交通大学医学院附属第九人民医院整复外科 200011
- Keywords:
Congenital hemangioma;
Pathogenesis;
Genetics;
Molecular targeted therapy
- From:
Chinese Journal of Plastic Surgery
2021;37(9):1057-1062
- CountryChina
- Language:Chinese
-
Abstract:
Congenital hemangioma (CH), a benign vascular tumor, is divided into rapidly involuting congenital hemangioma (RICH), noninvoluting congenital hemangioma (NICH) and partially involuting congenital hemangioma (PICH). Similarities and differences of clinical manifestation and histopathology exist in the three major subgroups, in which genetic variations probably play a part. This article focuses on genetic pathogenesis and provides potential targeted therapies. Somatic activating mutations in GNAQ or GNA11 and damaging de novo germline mutations in MYH9 were identified. GNAQ/GNA11 mutation that alters glutamine at amino acid 209 contributes to the formation of CH via RAS/MAPK/ERK and Hippo/YAP signaling pathways. Thus, ERK/MEK or Hippo/YAP, the critical components of aforementioned pathways, might become the potential target of CH therapy to develop a more specific treatment.
