Construction of Osteosarcoma Diagnosis Model by Random Forest and Artificial Neural Network

Osteosarcoma accounts for 28% of primary bone malignancies in adults and up to 56% in children and adolescents (<20 years). However, early diagnosis and treatment are still inadequate, and new improvements are still needed. Missed diagnoses exist due to fewer traditional diagnostic methods, and clinical symptoms are often already present before diagnosis. This study aimed to develop novel and efficient predictive models for the diagnosis of osteosarcoma and to identify potential targets for exploring osteosarcoma markers. First, osteosarcoma and normal tissue expression microarray datasets were downloaded from the Gene Expression Omnibus (GEO). Then we screened the differentially expressed genes (DEGs) in the osteosarcoma and normal groups in the training group. Next, in order to explore the biologically relevant role of DEGs, Metascape and enrichment analyses were also performed on DEGs. The “randomForest” and “neuralnet” packages in R software were used to select representative genes and construct diagnostic models for osteosarcoma. The next step is to validate the model of the artificial neural network. Then, we performed an immune infiltration analysis by using the training set data. Finally, we constructed a prognostic model using representative genes for prognostic analysis. The copy number of osteosarcoma was also analyzed. A random forest classifier identified nine representative genes (ANK1, TGFBR3, TNFRSF21, HSPB8, ITGA7, RHD, AASS, GREM2, NFASC). HSPB8, RHD, AASS, and NFASC were genes we identified that have not been previously reported to be associated with osteosarcoma. The osteosarcoma diagnostic model we constructed has good performance with areas under the curves (AUCs) of 1 and 0.987 in the training and validation groups, respectively. This study opens new horizons for the early diagnosis of osteosarcoma and provides representative markers for the future treatment of osteosarcoma. This is the first study to pioneer the establishment of a genetic diagnosis model for osteosarcoma and advance the development of osteosarcoma diagnosis and treatment.