A review of new progress in PIK3CA-related overgrowth spectrum research

Abstract:

PIK3CA-related overgrowth spectrum（PROS） is a genetic disease caused by PIK3CA gene activation mutations in the embryonic stage，which belongs to mosaic mutations and is one of the common causes of segmental overgrowth. Due to the heterogeneity of PROS，the morbidity is severely underestimated，and the clinical manifestations，diagnosis，and management of the disease are particularly difficult. This paper summarizes the latest research progress in the early recognition and diagnosis of PROS，and the pathogenesis of abnormal PI3K/AKT pathway and the treatment methods around this signal pathway，thus providing reference for clinical diagnosis and treatment of PROS patients.