PIK3CA基因相关过度生长疾病谱系

PIK3CA-related overgrowth spectrum

PIK3CA基因相关过度生长疾病谱系(PROS)是与PIK3CA突变引起PI3K通路过度激活相关的一类过度生长综合征。PROS的临床特征具有高度异质性,典型表现有脉管畸形、骨和软组织过度增生、神经系统和内脏异常。基因检测结果是诊断必备的条件,并提供了基因靶向治疗的依据。抑制PI3K通路的药物提供了传统治疗以外的替代选择。该文回顾了目前已知的PROS相关内容,并总结了该领域精准治疗的最新进展。

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.