Neurofibromatosis type 1(NF1)is an autosomal dominant inherited disease caused by mutations in the NF1 gene.It is characterized by cafe-au-lait macules(CALMs),cutaneous neurofibromas(CNF),plexiform neurofibromas(PNF),...Neurofibromatosis type 1(NF1)is an autosomal dominant inherited disease caused by mutations in the NF1 gene.It is characterized by cafe-au-lait macules(CALMs),cutaneous neurofibromas(CNF),plexiform neurofibromas(PNF),Lisch nodules,optic pathway gliomas(OPG),potential skeletal abnormalities,and other complications involving multiple organs and systems.[1]Additionally,approximately 10%of individuals with NF1 may progress to develop malignant peripheral nerve sheath tumors(MPNST).[1]The NF1 gene encodes neurofibromin,which regulates Ras and its downstream signaling pathways,such as the mitogen-activated protein kinase(MEK)/extracellular signal-regulated kinase(ERK)and phosphatidylinositol-3-kinase(PI3K)/Akt/mammalian target of rapamycin(mTOR)pathways.展开更多
基金supported by grants from the National Natural Science Foundation of China(Nos.82102344 and 82172228)Shanghai Clinical Research Center of Plastic and Reconstructive Surgery supported by the Science and Technology Commission of Shanghai Municipality(No.22MC1940300)+3 种基金Innovative research team of high-level local universities in Shanghai(No.SHSMU-ZDCX20210400)Natural Science Foundation of Shanghai(No.22ZR1422300)Shanghai Municipal Key Clinical Specialty(No.shslczdzk00901)the Project of Biobank(No.YBKA202204)from Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine.
文摘Neurofibromatosis type 1(NF1)is an autosomal dominant inherited disease caused by mutations in the NF1 gene.It is characterized by cafe-au-lait macules(CALMs),cutaneous neurofibromas(CNF),plexiform neurofibromas(PNF),Lisch nodules,optic pathway gliomas(OPG),potential skeletal abnormalities,and other complications involving multiple organs and systems.[1]Additionally,approximately 10%of individuals with NF1 may progress to develop malignant peripheral nerve sheath tumors(MPNST).[1]The NF1 gene encodes neurofibromin,which regulates Ras and its downstream signaling pathways,such as the mitogen-activated protein kinase(MEK)/extracellular signal-regulated kinase(ERK)and phosphatidylinositol-3-kinase(PI3K)/Akt/mammalian target of rapamycin(mTOR)pathways.
