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WT1 rs16754 polymorphism correlated with favorable outcomes in AML

By Anna Bartus

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Mar 2, 2018


Wilms’ Tumor-1 (WT1) single nucleotide polymorphism (SNP), SNP rs16754, has been reported that it is an independent prognostic factor for Acute Myeloid Leukemia (AML) patients. However, its role in the clinical outcomes of AML patients is still debatable.

Jessica Petiti from the University of Turin, Turin, Italy, et al. analyzed the association between SNP rs16754 and Overall Survival (OS) or Event Free Survival (EFS) of patients with AML. The data were published ahead of print in Leukemia Research on 29 January 2018.

Using a sensitive tool, peptide nucleic acid (PNA) directed polymerase chain reaction (PCR) Clamping technology, to identify polymorphisms, the authors analyzed bone marrow (BM) or peripheral blood (PB) mononuclear cells from 87 AML patients.  

Key findings:

  • WT1 rs16754 polymorphism (rs16754 GA/GG) was found in 32.2% (28/87) of all cases
  • Median OS in patients with rs16754 GA/GG (n = 28) and rs16754 AA (n = 59) genotype: 84 vs 9 months, P < 0.0001
  • Median EFS in patients with rs16754 GA/GG and rs16754 AA genotype: 23 vs 3 months, P < 0.0001
  • Compared to WT1 rs16754 AA, median OS was significantly better in WT rs16754 GA/GG patients treated with chemotherapy (P = 0.0007) and demethlyating therapy (P = 0.0095)
  • WT1 rs16754 GA/GG expression at diagnosis was an independent predictor of EFS (HR = 0.2, P < 0.0001) and OS (HR = 0.087), P < 0.0001

The study group concluded by stating that WT1 rs16754 GA/GG genotype correlated with favorable outcomes in adult patients with AML. Even though these data require further validations, the authors suggested that WT1 rs16754 GA/GG could be used as an independent prognostic factor for risk-stratification in AML.

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