摘要
PIK3CA相关的过度生长现象(PROS)是一类疾病的总称,包括多种过度生长性的罕见病,从单个手指到整个肢体,甚至可以包括腹部和脑[1]。该类疾病常为先天性.无家族史,病程呈进展性。其病因为PIK3CA基因突变.活化下游的AKT及mTOR信号通路,促进组织细胞过度生长[2]。
Phostphatidylinositol 3-Kinase(PI3K)-Protein Kinase B(PKB/AKT)mammalian target of rapamycin(mTOR)signal pathway regulates cell growth,proliferation,apoptosis,angiogenesis and autophagy.PIK3CA gene is a key oncogenen in this pathway.Mutants of this gene give rise to kinase activity,continuously stimulating downstream AKT and increasing the signaling events regulated by AKT including mTOR,and eventually lead to a increased ability of cells to invade and metastasize.Asymmetric overgrowth disorders due to PIK3CA mutant is called PIK3CA-related overgrowth spectrum(PROS).Rapamycin inhibits mTOR by binding to FK506-binding protein 12(FKBP12),so as to inhibit the pathway.Rapamycin has been used to treat multiple diseases with trustworthy safety.Clinical trials of rapamycin for PROS have also been reported,and it has the potential to be a therapeutic drug for PROS.
作者
殷悦涵
孙丽颖
田文
YIN Yue-han;SUN Li-ying;TIAN Wen(Department of Hand Surgery,Beijing Jishuitan Hospital,Beijing,100035,China)
出处
《中国骨与关节杂志》
CAS
2020年第11期858-863,共6页
Chinese Journal of Bone and Joint