ObjectiveResearch on auxiliary diagnosis of primary bone tumors can enhance diagnostic accuracy, facilitate early detection, and enable personalized treatment, thereby reducing misdiagnosis and missed cases, ultimately leading to improved patient prognosis and survival rates. In this study, we established a whole slide imaging (WSI) database comprising histopathological samples from all categories of bone tumors and integrated multiple neural network architectures for machine learning models. We then evaluated the accuracy of these models in diagnosing primary bone tumors. MethodsIn this paper, the machine learning model based on the deep convolutional neural network (DC-NN) method was combined with imaging omics analysis to analyze and discuss its clinical value in diagnosing primary bone tumors. In addition, this paper proposed a screening method for differentially expressed genes. Based on the paired T-test method, the process first estimated the tumor purity in the experimental data of each sample case, then assessed the actual gene expression value of the experimental data of each sample case, and finally calculated the optimized paired T-test statistics, and screened differentially expressed genes according to the threshold value. ResultsThe selected model demonstrated excellent diagnostic accuracy in distinguishing between normal and tumor images, with overall accuracy of (99.8 ± 0.4) % for five rounds of testing using the DCNN model and positive and negative predictive values of (100.0 ± 0.0) % and (99.6 ± 0.8) %, respectively. The mean area under each dataset’s curve (AUC) was (0.998 ± 0.004). Further, ten rounds of testing using the DCNN model showed an overall accuracy of (71.2 ± 1.6) % and a substantial positive predictive value of (91.9 ± 8.5) % in distinguishing benign from malignant bone tumors, with an average AUC of (0.62 ± 0.06) across datasets. ConclusionThe deep learning model accurately classifies bone tumor histopathology based on the degree of infiltration, achieving diagnostic performance comparable to that of senior pathologists. These findings affirm the feasibility and effectiveness of histopathological diagnosis in bone tumors, providing a theoretical foundation for the application and advancement of machine learning-assisted histopathological diagnosis in this field.
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