Key Points Question What is the immunogenomic landscape of osteosarcoma? Findings In this genetic association study based on 84 samples from The Cancer Genome Atlas, 14 immune-related genes associated with survival in osteosarcoma were identified. Meaning These findings suggest that a diagnostic risk score based on immune-related gene expression profiles may be useful to planning individualized therapies for osteosarcoma.
This genetic association study examines immune-related gene expression in osteosarcoma samples from The Cancer Genome Atlas project and assesses the association of gene expression profiles with survival outcomes.
Importance Host immune dysregulation is associated with initiation and development of osteosarcoma. In addition, immunotherapy for osteosarcomas requires some knowledge of the immune state of patients. Objective To perform an immunogenomic landscape analysis based on The Cancer Genome Atlas (TCGA) project, which provides osteosarcoma samples with clinical information. Design, Setting, and Participants This genetic association study was conducted from July 20, 2020, to September 20, 2020, as a secondary analysis of public data. Cox regression and risk score analyses were used to construct signatures of immune-related genes (IRGs) in 84 patients with osteosarcoma from TCGA with corresponding clinical information. Patients were divided into high- and low-risk groups with 42 individuals in each group according to their risk scores. Data were analyzed from July 20 to September 20, 2020. Main Outcomes and Measures Differentially expressed genes (DEGs) were analyzed between groups, and potential molecular mechanisms, expression regulation, and immune cell infiltration were also explored using bioinformation methods. A prognostic model based on independent risk factors selected from multivariate Cox hazard ratio regression was established to estimate 1-year overall survival. Results In this genetic association study based on 84 samples from patients with osteosarcoma from TCGA (mean [SD] age, 15.0 [4.8] years; 47 [56.0%] men; mean [SD] follow-up time, 4.1 [2.8] years), a total of 14 survival-associated IRGs were identified. Patients assigned to the high-risk group had worse survival than patients from the low-risk group (1 death [2.4%] vs 26 deaths [61.9%%]; P