Background The aim of this study is to identify the potential pathogenic and metastasis-related differentially expressed genes (DEGs) in osteosarcoma through bioinformatic analysis of Gene Expression Omnibus (GEO) database. Results Gene expression profiles of GSE14359, GSE16088, and GSE33383, in total 112 osteosarcoma tissue samples and 7 osteoblasts, were analyzed. Seventy-four normal-primary DEGs (NPDEGs) and 764 primary-metastatic DEGs (PMDEGs) were screened. VAMP8, A2M, HLA-DRA, SPARCL1, HLA-DQA1, APOC1 and AQP1 were identified continuously upregulating during the oncogenesis and metastasis of osteosarcoma. The enriched functions and pathways of NPDEGs include procession and presentation of antigens, activation of MHC class II receptors and phagocytosis. The enriched functions and pathways of PMDEGs include mitotic nuclear division, cell adhesion molecules (CAMs) and focal adhesion. With protein-protein interaction (PPI) network analyzed by Molecular Complex Detection (MCODE) plug-in of Cytoscape software, one hub NPDEG (HLA-DRA) and 7 hub PMDEGs (CDK1, CDK20, CCNB1, MTIF2, MRPS7, VEGFA and EGF) were eventually selected, and the most significant pathways in NPDEGs module and PMDEGs module were enriched in the procession and presentation of exogenous peptide antigen via MHC class II and the nuclear division, respectively. Conclusions By integrated bioinformatic analysis, numerous DEGs related to osteosarcoma were screened, and the hub DEGs identified in this study are possibly part of the potential biomarkers for osteosarcoma. However, further experimental studies are still necessary to elucidate the biological function and mechanism of these genes.

中文翻译：

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骨肉瘤潜在关键基因和关键通路的鉴定

背景本研究的目的是通过基因表达综合（GEO）数据库的生物信息学分析，确定骨肉瘤中潜在的致病和转移相关差异表达基因（DEG）。结果 分析了总共 112 个骨肉瘤组织样本和 7 个成骨细胞中 GSE14359、GSE16088 和 GSE33383 的基因表达谱。筛选了 74 个正常原发 DEG（NPDEG）和 764 个原发转移性 DEG（PMDEG）。VAMP8、A2M、HLA-DRA、SPARCL1、HLA-DQA1、APOC1 和 AQP1 在骨肉瘤的发生和转移过程中持续上调。NPDEG 的丰富功能和途径包括抗原的加工和呈递、MHC II 类受体的激活和吞噬作用。PMDEG 的丰富功能和途径包括有丝分裂核分裂、细胞粘附分子 (CAM) 和粘着斑。通过 Cytoscape 软件的分子复合物检测 (MCODE) 插件分析蛋白质-蛋白质相互作用 (PPI) 网络，1 个中枢 NPDEG (HLA-DRA) 和 7 个中枢 PMDEG（CDK1、CDK20、CCNB1、MTIF2、MRPS7、VEGFA 和 EGF ) 最终被选中，NPDEGs 模块和 PMDEGs 模块中最重要的通路分别通过 MHC II 类和核分裂在外源肽抗原的加工和呈递中富集。结论 通过综合生物信息学分析，筛选出大量与骨肉瘤相关的DEGs，本研究鉴定的枢纽DEGs可能是骨肉瘤潜在生物标志物的一部分。然而，仍需要进一步的实验研究来阐明这些基因的生物学功能和机制。