The bioinformatic analysis of genes in pathogenesis and malignancy of neurofibromatosis type 1
10.3760/cma.j.cn114453-20200315-00146
- VernacularTitle:Ⅰ型神经纤维瘤病发生与恶变相关基因的生物信息学数据分析
- Author:
Chengrui GUO
1
;
Xiaoxi LIN
;
Xiaojie HU
Author Information
1. 上海交通大学医学院附属第九人民医院整复外科 200011
- Keywords:
Neurofibromatosis type 1;
Precision medicine;
Computational biology;
Neurofibroma
- From:
Chinese Journal of Plastic Surgery
2020;36(5):523-530
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To screen regulatory genes of neurofibromatosis type 1 (NF1) involved in occurring and malignancy.Methods:The NF1-related gene expression data set (GSE14038) and methylation expression data set (E-GEOD21714) were obtained from the GEO public database. According to their sample sources, 10 cases were classified as normal samples and 48 cases were benign neurofibroma group and 19 cases of malignant peripheral nerve sheath tumor. The gene expression of different samples was analyzed to identify the differentially expressed genes, and the data were processed by applying gene annotation (GO), pathway enrichment analysis and protein interaction analysis (PPI) tools.Results:After comparing difference of gene expression and methylation. in the database, compared with normal group, there were 14 genes in the benign neurofibroma group that might be related to the occurrence of neurofibroma, and 105 genes in the malignant peripheral nerve sheath tumor group that might be related to malignant transformation. The main functions of the differential gene in the benign neurofibromatosis group are positive regulation of DNA dependent/directed transcription, transcription factor binding and mainly located in the spindle microtubules. The main function of the differential gene in the malignant neurofibroma group is regulation of cell proliferation, sequence-specific DNA binding and mainly located in the cell body of neuron. According to pathway enrichment analysis, the differential genes in the benign neurofibroma group were mainly enriched in sphingolipid metabolism, and the differential genes in the malignant neurofibroma group were mainly enriched in axonal guidance. Protein-protein interaction analysis of differential genes showed that the encoded proteins are mainly located in stem cell development, of which PAX3, PTGS2, SNAI2, MBP and NOG are the top 5 related expressed hub genes. Conclusions:PAX3 may be related to the occurrence of neurofibromatosis, while PTGS2, SNAI2, MBP and NOG may be related to the malignant transformation of MPNST.
