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1型神经纤维瘤病（ NF1）是一种常染色体显性肿瘤易患性综合征，基因定位于人染色体17q11．2区域。近期新一代测序技术揭示了散发的体细胞肿瘤与NF1基因的畸变或缺失相关。 NF1基因及其蛋白具有肿瘤抑制作用，在肿瘤的发生、发展中扮演着关键角色。由于基因突变或缺失，失去正常功能的神经纤维蛋白通过相应肿瘤通路导致细胞增殖和迁移加剧。进一步研究 NF1基因及其产物在散发肿瘤中的机制，可为发展新的治疗策略提供依据。“,”Neurofibromatosis type 1 (NF1) is a tumour predisposition syndrome as an autosomal domi-nant aberrations of NF1.Recently, the new generation sequencing technology have revealed somatic NF1 aberrations in various sporadic tumours.NF1 gene and its protein product, as tumour suppressor, play criti-cal role in wide range of tumours.NF1 alterations appear to be associated with the occurrence of tumor and adverse outcomes in several tumour types .Neurofibromin-deficient or mutations can lead to increased cell proliferation and migration .To further research of the mechanism of NF1 in sporadic cancers may lead to the improvement of understanding of the implications of NF1 aberrations and the development of NF1-based treat-ments, which is critical for the development of novel therapeutic strategies.