Study of NAD(P)‎H : quinone oxidoreductase-1 gene polymorphism in aml in correlation to treatment and prognosis

Abstract EN

Background : NAD (P)H Quinone Oxidoreductase is a flavoenzyme that plays an important role in protection of cells from oxidative oxygen damage.

The polymorphism in position 609 in exon 6(C→ T} in the human NQO1 gene leads to a proline to serine substitution at position 187 in the amino acid structure of the NQO1 protein resulting in loss of enzyme activity.

Aim of the present work was to study the frequency of NQO1 gene polymorphism in acute myeloid leukemia (AML) patients and its impact on treatment and prognosis.

Methods : Our study was conducted on 30 newly diagnosed patients with AML (GP I) and 20 age and sex matched normal healthy controls.

All cases were subjected at diagnosis to thorough history taking, clinical examination, routine investigations, hematological assessment including complete blood picture and bone marrow examination with immunophenotyping , and PCR restriction fragment length polymorphism of the NQO1 gene.

After receiving the first cycle of induction chemotherapy patients were re-evaluated to assess their response to treatment.

Results : 80% of our AML patients had a heterozygous mutation of the NQO1 gene, while the mutation was homozygous in 6.7% of patients.

On the other hand, 10% of our controls had a heterozygous mutation of the NQO1 gene.

The effect of the NQO1 gene polymorphism on the risk of AML was similar for both males and females and for smokers and non smokers.

There were no significant differences regarding this polymorphism among different morphological (FAB ) subtypes of AML.

Remission response to chemotherapy was lower in patients harboring the mutant type of NQO1 gene than in patients with the wild type although this finding was statistically insignificant.