Molecular Detection of Type A Nucleophosmin Mutation for the First Time in Forty Four Iraqi Patients with AML: Correlation with prognosis

Background and Aims: Type A NPM1 mutation, the most common type of NPM1 mutations, requires highly specific and sensitive method for its detection; therefore, this study was conducted to detect the frequency of type A NPM1 mutation in Iraqi AML patients and to correlate this mutation with prognostic parameters of AML patients. Materials and Methods: Detection of type A NPM1 mutation was done using allele specific oligonucleotide reverse transcriptase polymerase chain reaction. Results: Type A NPM mutation was found in 11 / 32 adult cases, and in 1/12 pediatric cases. In adult AML patients, 45.45% of adult mutated cases had achieved complete hematological remission in comparison with 33.33% of non-mutated cases, (P=0.733).Furthermore, mean WBC count, peripheral and bone marrow aspiration blast cell percent in mutated patients were lower than in non-mutated patients , ( P>0.05).Similarly, the child harbored type A mutation had achieved complete hematological remission. These findings indicate the good prognostic effect of this mutation in adult & pediatric AML patients. Furthermore, four adult cases whose NPM1 genotype was NPM1 mutated lacked type A NPM1 mutation in this assay; therefore they had other types of NPM1 mutations. Similarly, there were 2 children had NPM1 mutations, but they lacked type A mutation, so they had other type of NPM1 mutations. Type A mutation represented 73.33% of all NPM1 mutations in adult patients, and 66.66% of all NPM1 mutations in pediatric patients. Conclusions: in this noval study for the detection of type A NPM 1 mutation in Iraqi AML patients Type A mutation correlated with good prognostic parameters in adult age group in addition to its high rate of detection in adult than pediatric AML. Allele specific oligonucleotide technique was very specific analytic test for this mutation detection and might be used for monitoring of minimal residual disease.