Identification of effective diagnostic genes and immune cell infiltration characteristics in small cell lung cancer by integrating bioinformatics analysis and machine learning algorithms.

Objectives: To identify potential diagnostic markers for small cell lung cancer (SCLC) and investigate the correlation with immune cell infiltration.

Methods: GSE149507 and GSE6044 were used as the training group, while GSE108055 served as validation group A and GSE73160 served as validation group B. Differentially expressed genes (DEGs) were identified and analyzed for functional enrichment. Machine learning (ML) was used to identify candidate diagnostic genes for SCLC. The area under the receiver operating characteristic curves was applied to assess diagnostic efficacy. Immune cell infiltration analyses were carried out.

Results: There were 181 DEGs identified. The gene ontology analysis showed that DEGs were enriched in 455 functional annotations, some of which were associated with immunity. The kyoto encyclopedia of genes and genomes analysis revealed that there were 9 signaling pathways enriched. The disease ontology analysis indicated that DEGs were related to 116 diseases. The gene set enrichment analysis results displayed multiple items closely related to immunity. and were screened using ML and further validated as diagnostic genes. Significant differences were observed in SCLC with normal lung tissue samples among immune cell infiltration characteristics. Strong associations were found between the diagnostic genes and immune cell infiltration.

Conclusion: This study identified 2 diagnostic genes, and , that were related to immune cell infiltration by integrating bioinformatics analysis and ML algorithms. These genes could serve as potential diagnostic biomarkers and provide possible molecular targets for immunotherapy in SCLC.