Abstract:
NPM1 mutation is emerging as significant prognostic marker of acute myeloid leukemia (AML). Clinical
outcome of the patients with NPM1 mutation has a good prognostic impact and responds well to therapy.
This study was carried out with the objective to see the frequency of NPM1 mutations in AML patients
in Pakistan.
Materials and Methods: We studied 37 AML patients between the ages 15 to 70 years. DNA extraction of
the samples was done. Conventional Polymerase chain reaction (PCR) was carried out on DNA samples
to get the required DNA fragment amplification. The resultant amplified products were analyzed by genotyping.
Results: There was males predominance (67.6%) in our AML population. These patients were also classified
according to French American British (FAB) Classification and M3 subgroup (35.1%) was the most
commonly diagnosed group in this AML group followed by M2 (29.7%) and M1 (27%) subgroups. Heterozygous
pattern on genotyping was found in three patients (8%) out of total 37 cases studied. All these
NPM mutated cases were males and less than 50 years of age, with high WBC count and blast percentages
and belonged to M1 and M4 subgroups.
Conclusion: It is concluded from this study that NPM1 mutation was found in only 3 (8%) male AML
patients.
