Samar Khurram, Saba Shahid, Sadaf Shahab, Shariq Ahmed, Tahir Shamsi.
Frequency of Nucleophosmin1 Gene Mutation (NPM1) in Acute Myeloid Leukemia - A Single Center Experience.
Natl J Health Sci Jan ;2(4):168-72.

Introduction: NPM1 mutation is considered to be an important event in the process of leukemogenesisas it affects the p53 tumor suppressor pathway in the form of frame shift mutation. It is thought to provide a favorable outcome to the disease especially in the absence of FLT3 mutation.This study was conducted to find out the frequency of NPM1 mutations in patients with AML in Pakistani population. Materials & Methods: This was a descriptive cross sectional study conducted for a time period at the National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi. Study subjects? demographics including age, gender, presence and duration of the symptoms. Diagnosis was made on the morphology of blood and/or bone marrow samples in accordance to the revised WHO classification of myeloid neoplasms, 2016. All the patients were treatment naive at the time ofenrollment into the study. Sanger sequencing was performed to detect NPM1 mutation. Results: Out of 100 patients who were enrolled in the study, 60% were males. The mean age of patients was 38.9 years (range: 8yrs - 60yrs). NPM1mutation was detected in 14(14%) patients of the total AML cases with equal presence in both genders. According to the WHO classification 2016, NPM1 was found in 3(3%) in AML without maturation, 4(4%) in AML with maturation, 3(3%) in acute promyelocytic leukemia and 3(3%) in acute myelomonocytic leukemia. Conclusion: NPM1 was detected in 14% cases of AML in our study. The presence of the NPM1 mutationhas a considerable impact on the prognosis of the disease as it may help in the tailoring of the future treatment of the AML patients particularly those with normal cytogenetics.

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