Department of Orthopedics, National Cancer Center, National Clinical Research Center for Cancer, Cancer Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 17 Nanli, Panjiayuan, Chaoyang District, Beijing 100021, China.
Medicina (Kaunas). 2024 Jan 4;60(1):95. doi: 10.3390/medicina60010095.
Osteosarcoma, the most prevalent malignant bone tumor in children and adolescents, presents a complex pathogenesis characterized by various genetic and epigenetic alterations. This study aims to identify key differentially expressed genes (DEGs) in pediatric osteosarcoma, with a focus on those influencing metastasis and patient survival. We utilized the GSE33382 dataset from the GEO database for a comprehensive bioinformatic analysis. This included a protein-protein interaction (PPI) network analysis, Cox regression, and Kaplan-Meier survival analysis to identify central DEGs associated with osteosarcoma metastasis and patient survival. Our analysis identified 88 DEGs related to osteosarcoma metastasis. Among them, three survival-related central DEGs-C1QA, CD74, and HLA-DMA-were significantly linked to patient outcomes. Further correlation analysis established a strong relationship between these genes, tumor mutation burden (TMB), immune checkpoint gene expression, and overall survival. Notably, C1QA and CD74 exhibited higher expression in non-metastatic osteosarcoma cases, suggesting a potential role in disease progression. The identified DEGs, particularly C1QA, CD74, and HLA-DMA, may serve as critical biomarkers for pediatric osteosarcoma prognosis and potential targets for immunotherapy. These findings provide a deeper understanding of the molecular landscape of osteosarcoma and open new avenues for therapeutic intervention.
骨肉瘤是儿童和青少年中最常见的恶性骨肿瘤,其发病机制复杂,存在多种遗传和表观遗传改变。本研究旨在鉴定小儿骨肉瘤中关键的差异表达基因(DEGs),重点关注那些影响转移和患者生存的基因。我们利用 GEO 数据库中的 GSE33382 数据集进行了全面的生物信息学分析。这包括蛋白质-蛋白质相互作用(PPI)网络分析、Cox 回归和 Kaplan-Meier 生存分析,以鉴定与骨肉瘤转移和患者生存相关的核心 DEGs。我们的分析确定了 88 个与骨肉瘤转移相关的 DEGs。其中,三个与生存相关的核心 DEGs-C1QA、CD74 和 HLA-DMA-与患者预后显著相关。进一步的相关性分析表明,这些基因与肿瘤突变负担(TMB)、免疫检查点基因表达和总生存之间存在很强的关系。值得注意的是,C1QA 和 CD74 在非转移性骨肉瘤病例中表达较高,提示其在疾病进展中可能发挥作用。鉴定出的 DEGs,特别是 C1QA、CD74 和 HLA-DMA,可能成为小儿骨肉瘤预后的关键生物标志物,也是免疫治疗的潜在靶点。这些发现加深了我们对骨肉瘤分子图谱的理解,并为治疗干预开辟了新途径。