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2020, Number 2

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Rev Cubana Hematol Inmunol Hemoter 2020; 36 (2)

A rare case of acute myeloid leukemia with coexistence of NPM1-A mutation and chromosome 16 inversion

Ruiz MV, Díaz ACA, Amor VAM, Fernández ML, Garrote SH, González GS

Language: Spanish
References: 26
Page: 1-9
PDF size: 308.80 Kb.


ABSTRACT

Introduction: Acute myeloid leukemia (AML) is a heterogeneous group of clonal disorders with great variability in terms of pathogenesis, morphological, genetic and immunophenotypic characteristics. NPM1 mutations represent one of the most common in AML and are associated with favorable clinical response. By cytogenetics, chromosome 16 inversion defines, with a favorable prognosis, the core‐binding factor for the subgroup of AMLs
Objective: To describe a AML case in which the molecular study of the NPM1 gene and the chromosome 16 inversion were positive.
Clinical case: At the molecular level, fluorescent in situ hybridization was positive for chromosome 16 inversion and, by molecular biology, it was positive for both chromosome 16 inversion and for the NPM1-A gene, elements with a low frequency of appearance. The patient was administered a non-intensive combination as part of a chemotherapy regimen to improve her clinical status. After initial clinical improvement, the patient began with complications and died.
Conclusions: The coexistence of these two mutations is very rare in patients with AML. Despite presenting a good prognosis, the patient died after a few days of treatment.


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