山西医科大学学报2026，Vol.57Issue(8)：857-866,10.DOI:10.13753/j.issn.1007-6611.2026.08.002
基于单细胞测序的骨肉瘤异质性解析及预后风险预测模型的构建
Heterogeneity analysis of osteosarcoma based on single-cell sequencing and construction of a prognostic prediction model
摘要
Abstract
Objective To identify distinct cellular clusters and analyze their functional characteristics based on osteosarcoma single-cell RNA sequencing(scRNA-seq)data,and construct a risk assessment model based on the core genes derived from these subpopulations.Methods Osteosarcoma scRNA-seq data GSE152048 from GEO database were firstly applied to annotate the cell types based on the expression of known marker genes,and the tumor cells were focused for subpopulation analysis.Afterwards,the primary biological functions of each subpopulation were investigated using Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment analyses.Then,the top 100 most significantly differentially expressed genes(DEGs)across subpopulations were identified and analyzed to develop a prognostic risk prediction model.Results Based on GEO osteoarcoma scRNA-seq data,a total of nine tumor cell subpopulations were identified,and different subpopulations exerted distinct functions in cell proliferation,mitosis,immune regulation,and metabolic regulation.Moreover,a four-gene prognostic signature model was successfully constructed based on the most significant DEGs among these subpopulations.Based on the model,osteosarcoma patients were divided into high-risk group and low-risk group,and the survival of patients was significantly lower in high-risk group than in low risk group,and the proliferation ability of tumor was stronger in high-risk group(P<0.001).Conclusion The study systematically delineates the heterogeneity of osteo-sarcoma at single-cell level,and establishes a prognostic risk assessment model based on intercellular gene expression differences,which provides new insights for precise subtyping,prognostic evaluation and identification of potential therapeutic targets in osteosarcoma.关键词
骨肉瘤/异质性/单细胞测序/基因特征/风险评估Key words
osteosarcoma/heterogeneity/single-cell sequencing/gene signature/risk assessment分类
医药卫生引用本文复制引用
吴亦菲,苗蕾,吴礼泽,薛华英,杨志清,申宁宁,高丽芳,马文霞,王晨..基于单细胞测序的骨肉瘤异质性解析及预后风险预测模型的构建[J].山西医科大学学报,2026,57(8):857-866,10.基金项目
国家自然科学基金项目(82572996) （82572996）
山西省科技厅应用基础研究项目(202303021222333,202403021211135,202403021222467) （202303021222333,202403021211135,202403021222467）
