The Prognostic Impact of WT1 Expression Levels, Mutations, and SNP rs16754 in AML Patients: A Retrospective Cohort Study

Background and Objective: The clinical outcomes and treatment options for acute myeloid leukemia (AML) patients are highly dependent upon molecular markers. In this study, Wilms tumor (WT1) (exons 7 and 9) mutations, SNP rs16754, and WT1 expression levels in 130 random AML patients were screened; FMs-like tyrosine kinase-3 internal tandem duplication (FLT3-ITD), nucleophosmin (NPM1), and CCAAT/enhancer-binding protein alpha (CEBPA) mutations were also evaluated. Material and Methods: Overall, 130 AML patients were recruited for our study. WT1 mutations were determined by Sanger sequencing, and expression levels were determined by real-time PCR. The Kaplan-Meier method was used to calculate overall survival (OS) and disease-free survival (DFS). Results: The frequency of WT1 mutations in the study population was 5.4%, and it did not affect overall survival (OS) (p=0.98), disease-free survival (DFS) (p=0.97), or complete remission (CR) rates in AML patients. The major allele of SNP rs16754 in the current study was A. No significant differences were found for OS (p=0.52), DFS (p=0.42), or complete remission rates among all SNP rs16754 genotypes. The overexpression of WT1 was observed in 83% of patients at diagnosis. No significant difference was found for OS (p=0.84), DFS (p=0.82), or complete remission rates between AML patients with high and low WT1 expression levels. Conclusion: The results of the current study do not support WT1 mutation, SNP rs16754, or WT1 overexpression at diagnosis, as they were found to be poor prognostic markers in AML patients.