Molecular landscape of acute myeloid leukemia based on nucleophosmin1 gene: Bangladesh perspective

Background: Acute myeloid leukemia (AML) is a disorder that exhibits a high degree of heterogeneity on both a clinical and molecular level. Nucleophosmin (NPM1) is a nuclear phosphoprotein that contributes to the progression of acute myeloid leukemia (AML). NPM1 exon 12 is the most common site of genetic mutation in AML. Studies have been done to determine the diagnostic and prognostic levels of AML worldwide. The study of NPM1 gene mutation in adult AML patients has not been reported so far in Bangladesh. Objectives: The objective of the study is to detect the mutation in exon 12 of the NPM1 gene in adult AML patients of the Bangladeshi population. Methods: This research was a cross-sectional descriptive study. For detection of mutation in NPM1, genomic DNA was isolated and quantified. The target sequence was amplified by short-range PCR. To detect a mutation in exon 12 of the NPM1 gene, the amplicons were validated by gel electrophoresis and the sequence was performed using a Sanger sequencer. Data analysis was done using different databases and software. Results: In this research, the most frequent type of mutation identified was the frame-shift variant (57.11%). CATG/CCT was the most frequent allele change found in this study (16.16%). In this study, 7.21% of mutations were newly identified mutation. Conclusions: The sample size was small to decide and furthermore study is recommended. Despite of limitations this study emphasizes the importance of exploring the genetic makeup of the Bangladeshi population to develop a database.