Flow Cytometric Analysis of Mutant Nucleophosmin 1 Protein in Acute Myeloid Leukemia: Correlation with its Gene Mutation

Abstract

cute myeloid leukemia (AML) with mutated NPM1 accounts for approximately one-third of all AML cases. Its most distinguishing feature is the aberrant expression of NPM1 in the cytoplasm of leukemic cells. It has distinct genetic, pathologic, immunophenotypic, and clinical characteristics. It is commonly associated with high TLC, acute myelomonocytic and acute monocytic leukemia, CD34 negativity, normal karyotype and favourable prognosis in the absence of FLT-ITD mutation. The current study aimed to evaluate the efficiency of flow cytometric assay of mutant NPM1 protein in newly diagnosed AML patients and to correlate it with NPM1 gene mutation. Also, the relation between this mutation and clinical, morphological and immunophenotypic data was investigated. Thirty four newly diagnosed AML patients were evaluated for expression of mutant NPM1 using an antibody specific to it using flow cytometry. Twenty eight patients (out of 34) were evaluated for the presence of NPM1 exon 12 mutations using HRM PCR. The NPM1 mutation was found in 9 (32.1%) patients by HRM PCR. These patients showed a statisticall