摘要
【目的】本研究利用RNA转录组测序结合生物信息学分析,旨在鉴定与骨肉瘤发生发展密切相关的核心基因,并探讨其功能注释及涉及的信号通路。【方法】收集骨肉瘤患者的组织和血液样本:包括肿瘤组织中心区与边缘区各1例及对应的肿瘤全血样本1例,同时采集患者外周血2例和健康对照外周血3例,进行RNA转录组测序。应用生物信息学鉴别不同样本间的差异表达基因(differentially expressed genes,DEGs),并对筛选出的DEGs进行基因本体论(gene ontology,GO)功能富集及京都基因与基因组百科全书(Kyoto encyclopedia of genes and genomes,KEGG)通路富集分析。[结果]比较肿瘤中心区与边缘区时,共鉴定出4900个差异表达基因;在肿瘤全血与患者外周血的对比中,获得5312个DEGs;而患者外周血与健康对照外周血之间,则筛得13549个DEGs。通路富集结果显示,肿瘤中心区相较边缘区的DEGs在PI3K-Akt信号通路、细胞因子-细胞受体相互作用以及ECM-受体相互作用等与免疫和炎症相关的通路中呈现显著富集。【结论】骨肉瘤不同部位及血液样本中的差异表达基因均显著富集于免疫调节和炎症反应相关的信号通路,提示这些通路可能在骨肉瘤的发病机制和进展中发挥重要作用。
[Objective]This study uses RNA transcriptome sequencing combined with bioinformatics analysis,aiming to identify core genes closely related to the occurrence and development of osteosarcoma,and to explore their functional annotations and the signaling path-ways involved.[Method]We collected tissue and blood samples from osteosarcoma patients:including one tumor tissue sample each from the central and marginal regions and a corresponding whole blood sample;simultaneously collecting two peripheral blood samples from pa-tients and three peripheral blood samples from healthy controls,for RNA transcriptome sequencing.We applied bioinformatics to identify differentially expressed genes(DEGs)among different samples,and performed Gene Ontology(GO)functional enrichment and Kyoto Ency-clopedia of Genes and Genomes(KEGG)pathway enrichment analyses on the selected DEGs.[Results]When comparing the tumor central region with the peripheral region,a total of 4900 dfferentially expressed genes were identified.In the comparison between tumor whole blood and the patient's peripheral blood,5312 DEGs were obtained.Meanwhile,between the patient's peripheral blood and healthy control peripheral blood,13549 DEGs were screened.Pathway enrichment results show that the DEGs from the tumor central region compared to the peripheral region are significantly enriched in immune-and inflammation-related pathways such as the PI3K-Akt signaling pathway,cytokine-receptor interaction,and ECM-receptor interaction.[Conclusion]Differentially expressed genes in various sites of osteosarco-ma and blood samples are significantly enriched in immune regulation and inflammation-related signaling pathways,suggesting that these pathways may play important roles in the pathogenesis and progression of osteosarcoma.
作者
李思影
董一凤
贾锡辉
汪洪宇
伦登兴
Li Si-ying;DONG Y-feng;JA Xi-hui;WANG Hong-yu;LUN Deng-xing(Department of Spinal Degeneration and Oncology,Weifang Peoples Hospi-tal,Shandong Second Medical University,Weifang 261041,Shandong,China)
出处
《中国矫形外科杂志》
北大核心
2025年第14期1303-1309,共7页
Orthopedic Journal of China
基金
2024年潍坊市卫生健康委员会中医药科研项目(编号:WFZYY2024-1-009)。
关键词
骨肉瘤
转录组测序
生物信息学
差异基因分析
osteosarcoma
transcriptome sequencing
bioinformatics
differential gene analysis
