PIK3CA相关过度生长谱研究新进展

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

摘要:

PIK3CA相关过度生长谱（PIK3CA-related overgrowth spectrum，PROS）是由于胚胎时期PIK3CA基因激活突变导致的遗传性疾病，属于嵌合体突变，是引起节段性过度生长的常见原因之一。由于PROS的异质性，其发病率被严重低估，因而此病的临床表现、诊断、管理尤其困难。通过对PROS的早期识别、诊断、PI3K/AKT通路异常的发病机制以及围绕该信号通路的治疗方法等研究进展进行总结，为临床针对PROS患者的诊治提供参考。

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.