PIK3CA基因相关过度生长综合征群；&emsp, 基因检测；&emsp, 阿培利司；&emsp, 米仑色替

PIK3CA-related overgrowth spectrum （PROS） is characterized by multi-site overgrowth manifestations caused

by activating mutations in the PIK3CA gene， resulting in high phenotypic variability. With the expansion and deepening of research， the disease spectrum is still expanding. PROS's phenotype is highly overlapping and commonly includes segmental overgrowth， vascular malformations， and nonvascular lesions. It is closely linked to the timing and location of mutations in the PIK3CA gene during embryonic development. Diagnosis of PROS remains challenging and requires confirmation through clinical manifestations， genetic and molecular testing， and differentiation from similar clinical diseases. Traditional treatment strategies primarily aim to correct local deformities and manage symptoms associated with the disease. Ongoing research focuses on developing targeted therapeutic interventions to enhance treatment effectiveness and improve the prognosis of PROS patients.

PIK3CA-related overgrowth syndrome, Genetic testing, Alpelisib, Miransertib