NF1和NF2关键区别包括: 1) NF2中可见咖啡牛奶斑但明显更少见,且无Lisch结节。 2) NF2相关神经鞘瘤不会恶变为MPNST。 3) 两者均可出现脊神经根肿瘤,但NF2中为神经鞘瘤,NF1中为神经纤维瘤。 4) NF2患者不存在NF1患者中常见的认知功能障碍。 5) NF2患者的双侧听神经鞘瘤和脑脊膜瘤患病率极高。 Noonan综合...
Molecular analysis of the DNA isolated from peripheral blood and plexiform neurofibroma of the proband was performed with a custom designed multi-gene panel assay examining NF1, NF2, RAF1, KIT, SPRED1, SMARCB1, and PTPN11 genes. The libraries were prepared by using QIAGEN QIAseq targeted DNA cu...