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Chromosomal translocations and gene mutations are characteristics of the genomic profile of acute myeloid leukemia (AML). We aim to identify a gene signature associated with poor prognosis in AML patients with  FLT3-ITD  compared to AML patients with  NPM1/CEBPA  mutations. RNA-sequencing (RNA-Seq) count data were downloaded from the UCSC Xena browser. Samples were grouped by their mutation status into high and low-risk groups. Differential gene expression (DGE), machine learning (ML) and survival analyses were performed. A total of 471 differentially expressed genes (DEGs) were identified, of which 16 DEGs were used as features for the prediction of mutation status. An accuracy of 92% was obtained from the ML model.  FHL1 ,  SPNS3 , and  MPZL2  were found to be associated with overall survival in  FLT3-ITD  samples.  FLT3-ITD  mutation confers an indicative gene expression profile different from  NPM1/CEBPA  mutation, and the expression of  FHL1 ,  SPSN3 , and  MPZL2  can serve as prognostic indicators of unfavorable disease.

Upregulation of FHL1 , SPNS3 , and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation