PIK3CA-related overgrowth spectrum
10.3760/cma.j.cn114453-20240227-00052
- VernacularTitle:PIK3CA基因相关过度生长疾病谱系
- Author:
Hongrui CHEN
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，上海 200011
- Keywords:
Gene targeting;
PIK3CA-related overgrowth spectrum;
Clinical features;
Precise treatment
- From:
Chinese Journal of Plastic Surgery
2024;40(6):678-682
- CountryChina
- Language:Chinese
-
Abstract:
The hyperactivation of the PI3K/AKT/mTOR signal pathway caused by PIK3CA mutation is associated with a category of overgrowth syndromes that are defined as PIK3CA-related overgrowth spectrum (PROS). The clinical features of PROS are highly heterogeneous and typically present with vascular malformations, bone and soft tissue overgrowth, neurological and visceral abnormalities. Detection of gene mutation are necessary for diagnosis and provide the basis for the genetic targeted therapy of PROS. Drugs that inhibits PI3K pathway have offered an alternative choice to conventional therapies. This article reviews the current knowledge of PROS and summarizes the latest progress for precise treatment.
