PIK3CA相关过度生长谱系病, PI3K/AKT/mTOR信号通路, &emsp, 基因突变, &emsp, 靶向治疗

PIK3CA-related overgrowth spectrum （PROS） disorders are rare diseases with vascular malformations and segmental overgrowth of certain body parts. These disorders， collectively referred to as the PROS spectrum， are all caused by mutations in the PIK3CA gene during embryonic development. These mutations lead to alterations in the PI3K/AKT/mTOR signaling pathway， resulting in diverse phenotypic manifestations. In this paper， the specific loci of PROS mutations and the clinical applications and efficacy of various inhibitors targeting the PI3K/AKT/mTOR pathway were reviewed， and the various ongoing clinical trials and their future perspectives were discussed， in order to promote the development of innovative therapies and the implementation of more precise treatment strategies.

PIK3CA-related overgrowth spectrum disorders, PI3K/AKT/mTOR signaling pathway, Gene mutation,