组织工程与重建外科杂志2025，Vol.21Issue(4)：401-407,7.DOI:10.3969/j.issn.1673-0364.2025.04.012
PIK3CA基因相关过度生长疾病谱的研究现况及进展
Research status and progress of PIK3CA-related overgrowth spectrum
摘要
Abstract
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.关键词
PIK3CA基因相关过度生长综合征群/基因检测/阿培利司/米仑色替Key words
PIK3CA-related overgrowth syndrome/Genetic testing/Alpelisib/Miransertib分类
医药卫生引用本文复制引用
熊菲,袁斯明..PIK3CA基因相关过度生长疾病谱的研究现况及进展[J].组织工程与重建外科杂志,2025,21(4):401-407,7.基金项目
江苏省基础研究计划(自然科学基金,BK20231504). （自然科学基金,BK20231504）
