Abstract
Background: The precise diagnosis and classification of acute myeloid leukemia (AML) has important implications for clinical management and medical research. Methods: We investigated the expression of protein-coding genes in blood samples from AML patients and controls using The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) databases. Subsequently, we applied the feature selection method of the least absolute shrinkage and selection operator (LASSO) to select the optimal gene subset for classifying AML patients and controls as well as between a particular FAB subtype and other subtypes of AML. Results: Using LASSO method, we identified a subset of 101 genes that could effectively distinguish between AML patients and control individuals; these genes included 70 up-regulated and 31 down-regulated genes in AML. Functional annotation and pathway analysis indicated the involvement of these genes in RNA-related pathways, which was also consistent with the epigenetic changes observed in AML. Results from survival analysis revealed that several genes are correlated with the overall survival in AML patients. Additionally, LASSO-based gene subset analysis successfully revealed differences between certain AML subtypes, providing valuable insights into subtype-specific molecular mechanisms and differentiation therapy. Conclusions: This study demonstrated the application of machine learning in genomic data analysis for identifying gene subsets relevant to AML diagnosis and classification, which could aid in improving the understanding of the molecular landscape of AML. The identification of survival-related genes and subtype-specific markers may lead to the identification of novel targets for personalized medicine in the treatment of AML.