Descrição do Perfil Imunofenotípico de Indivíduos com Leucemia Mieloide Aguda Associado a Mutações em NPM1 e FLT3-ITD em População da Bahia

Abstract

Acute myeloid leukemia (AML) is caused by the clonal proliferation of precursor cells of the myeloid lineage. The diagnosis of AML is made by identifying clinical and laboratory signs, including the percentage of leukemic blasts in peripheral blood or bone marrow, immunophenotyping, and molecular alterations. It is described in the literature that genetic alterations associated with AML may influence prognosis, cellularity, and the expression of cellular markers on blasts in different populations. The objective of this study was to analyze, in the treated population, the cellularity, cellular markers in myeloblasts, and mutations in the NPM1 and FLT3 (ITD) genes in patients with AML in Bahia. Peripheral blood and bone marrow were collected from 114 individuals with de novo AML, non-APL subtype, without prior chemotherapy, confirmed by immunophenotyping between 2019 and 2025. The study participants were classified according to sex and NPM1 and FLT3-ITD mutational status. Cellularity and the presence of cellular markers in myeloblasts (CD2, memCD3, citCD3, CD7, CD10, CD11b, CD13, CD14, CD15, CD16, CD19, CD33, CD34, CD35, CD38, CD45, CD56, CD64, CD71, CD79a, CD117, CD123, CD300e, HLA-DR, MPO) were analyzed by flow cytometry. This study identified that the profile of this study population shows a lower average age, a higher predominance of females, and a lower frequency of NPM1 and FLT3-ITD mutations compared to those described in other studies. The population had high 90-day mortality, with a marked effect of NPM1 and FLT3-ITD co-mutation, different from what is described in the literature for this mutation status. There is an association of lower frequency of the CD34 and HLA-DR markers in individuals with NPM1 mutation and higher frequency of CD2, CD7, and CD11b in individuals with FLT3-ITD mutation. The analysis of overall survival and immunophenotyping demonstrates parameters that are not commonly described in the literature and may be associated with the profile of this population.