Elevated SPINK2 gene expression is a predictor of poor prognosis in acute myeloid leukemia

Acute myeloid leukemia (AML) has a high mortality rate and its clinical management remains challenging. The aim of the present study was to identify the hub genes involved in AML. In order to do so, the gene expression data of the GSE9476 database, including 26 AML and 10 normal samples, were downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were then identified via bioinformatics analysis. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses were performed on DEGs. Furthermore, the most upregulated genes were selected for further investigation in the Oncomine, gene expression profiling interactive analysis and UALCAN datasets. In total, 1,744 upregulated and 1,956 downregulated genes were detected. The GO and KEGG results revealed that upregulated genes were enriched in metabolic processes, while downregulated genes were associated with the immune response. Serine protease inhibitor Kazal-type 2 (SPINK2) ranked first among all the upregulated genes and was regarded as a hub gene in the development of AML. The overexpression of SPINK2 was validated in 12 patients with AML from the Linyi Central Hospital and in data from the Oncomine and Gene Expression Profiling Interactive Analysis (GEPIA) databases. Furthermore, the UALCAN and GEPIA datasets demonstrated that patients with high SPINK2 levels had shorter survival times. In conclusion, the results from the present study revealed that the SPINK2 gene was upregulated in patients with AML and that elevated SPINK2 expression was associated with poor outcomes in these patients.