Molecular and cytogenetic abnormalities in acute myeloid leukemia: review and case studies

Elvira Deolinda Rodrigues Pereira Velloso, Carlos Henrique Ares Silveira da Motta, Juliana Braga Furtado, Nydia Strachman Bacal, Paulo Augusto Achucarro Silveira, Cynthia Bachir Moyses, Roberta Sitnik, João Renato Rebello Pinho

To study the frequency of mutations that may lead to a good or bad prognosis, as well as their relation with the karyotype and immunophenotype in patients with acute myeloid leukemia. Thirty samples of patients with acute myeloid leukemia were studied, in which FLT3-ITD, FLT3-TKD and NPM1 mutations were investigated. All samples were submitted to immunophenotyping and 25 to karyotyping. An occurrence of 33.3% NPM1 mutation and an equal number of FLT3-ITD mutation were observed. When only the cases with normal karyotype were studied, this figures increased to 50 and 40%, respectively. Eight percent of cases with normal karyotype and genotype NPM1+/FLT3- were included in the group of acute myeloid leukemia with good prognosis. The typical phenotype of acute myeloid leukemia with normal karyotype and mutated NPM1 (HLA-DR and CD34 negative) was not observed in this small series. Good prognosis cases were identified in this series, emphasizing the need to include new genetic markers in the diagnostic routine for the correct classification of acute myeloid leukemia, to more properly estimate prognosis and determine treatment.