Prevalence of Classification of Nucleophosmin 1 Gene Mutations in Iraqi Cohort of Acute Myeloid Leukemia

Abstract BACKGROUND: Acute myeloid leukemia (AML) is a hematological cancer that disrupts normal hematopoietic processes, eventually promoting bone marrow failure and death. One of the most prevalent genetic mutations in adult AML is within the nucleophosmin 1 ( NPM1 ) gene, and it is especially predominant in AML. This study aimed to identify the three most common types of mutations (A, B, and D) in NPM1 in a sample of patients with newly diagnosed AML in Iraqi. MATERIALS AND METHODS: Blood samples were collected from 50 newly diagnosed AML patients and 50 healthy individuals as the control group. Deoxyribonucleic acid was extracted to detect the NPM1 gene mutation types studied. RESULTS: NPM1 mutations were detected in 32% ( n = 16) of the AML patients, 18% ( n = 9) were female and 14% ( n = 7) were male. Out of the detected mutations in the present study, the percentages of A, B, and D types were 56.25%, 25%, and 18.75%, respectively. Of the seven mutated AML in males, the number of A, B, and D types were 3, 3, and 1, respectively, whereas for the 9 females were 6, 1, and 2, respectively. According to the French-American-British (FAB) classification, mutated AML patients were most common in subtype M5 (9/16), followed by subtype M4 (2/16), whereas the numbers in M0, M2, M3, M6, and M7 were 1/16 in each subtype. White blood cells count was significantly higher in patients with AML than in apparently healthy subjects. CONCLUSION: In newly diagnosed Iraqi patients with AML, the majority of NPM1 mutations were found in the M5 subtype according to the FAB classification. Furthermore, approximately 40% or more of NPM1 gene mutations in both sexes were of A type.