神经纤维瘤病1例及文献复习

目的探讨神经纤维瘤病的临床特点、病理特征、诊断、治疗及预后。方法回顾分析1例NF-1型神经纤维瘤病患者的临床资料,并结合文献进行讨论。结果NF-1型神经纤维瘤病一般在儿童期发病,以皮肤色素沉着(牛奶咖啡斑)、多发性神经纤维瘤为特征,组织学表现以施万(Schwann)细胞为主。免疫组化标记显示:S-100、NSE、V im等阳性,而D esm in、SMA等阴性。结论神经纤维瘤病是常染色体显性遗传病,可分为NF-1和NF-2两种亚型,临床表现明显,病灶分布广泛。

Report of One Case of Neurofibroma and Review of Relative Literature

Objective To investigate the clinicopathological features,diagnosis,therapy and prognosis of neurofibroma.Methods One case of superior mediastinum neurofibroma associated with neurofibromatosis type 1 was discussed and relative literature was reviewed.Results Neurofibromatosis type 1,characterized by skin pigmentation(café-au-lait spots) and multiple neurofibromas,usually occurred in childhood.Schwann cell was the main histological manifestation.Immunohistochemical examination showed positive reaction for s-100,NSE and Vim,but negative reaction for Desmin and SMA.Conclusion Neurofibroma is an autosomal dominant syndrome,including two types(NF-1 and NF-2).Its clinical manifestation is distinct.It exists mostly in posterior mediastinum,except some other unusual locations including thorax,lung and superior mediastinum.