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

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.

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).

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.

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.