Chen Hongrui, Gao Wei, Liu Hongyuan, Sun Bin, Hua Chen, Lin Xiaoxi
From the Department of Plastic & Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
Ann Plast Surg. 2023 May 1;90(5S Suppl 2):S209-S215. doi: 10.1097/SAP.0000000000003389. Epub 2022 Dec 21.
Hyperactivation of the PI3K/AKT/mTOR signaling pathway caused by PIK3CA mutations 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 usually present as vascular malformations, bone and soft tissue overgrowth, and neurological and visceral abnormalities. Detection of PIK3CA variants is necessary for diagnosis and provides the basis for targeted therapy for PROS. Drugs that inhibit the PI3K pathway offer alternatives to conventional therapies. This article reviews the current knowledge of PROS and summarizes the latest progress in precise treatment, providing new insights into future therapies and research goals.
由PIK3CA突变引起的PI3K/AKT/mTOR信号通路过度激活与一类过度生长综合征相关，这类综合征被定义为PIK3CA相关过度生长谱系（PROS）。PROS的临床特征高度异质，通常表现为血管畸形、骨骼和软组织过度生长以及神经和内脏异常。检测PIK3CA变异对于诊断是必要的，并为PROS的靶向治疗提供依据。抑制PI3K通路的药物为传统治疗提供了替代方案。本文综述了目前关于PROS的知识，并总结了精准治疗的最新进展，为未来的治疗和研究目标提供了新的见解。
