Identification of the MYST3-CREBBP fusion gene in infants with acute myeloid leukemia and hemophagocytosis
Rev. bras. hematol. hemoter
; 38(4): 291-297, Oct.-Dec. 2016. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-829947
Biblioteca responsável:
BR1.1
Localização: BR408.1
ABSTRACT
ABSTRACT Background:
Acute myeloid leukemia presenting the MYST3-CREBBP fusion gene is a rare subgroup associated with hemophagocytosis in early infancy and monocytic differentiation. The aim of this study was to define the relevant molecular cytogenetic characteristics of a unique series of early infancy acute myeloid leukemia cases (≤24 months old), based on the presence of hemophagocytosis by blast cells at diagnosis.Methods:
A series of 266 infant cases of acute myeloid leukemia was the reference cohort for the present analysis. Acute myeloid leukemia cases with hemophagocytosis by blast cells were reviewed to investigate the presence of the MYST3-CREBBP fusion gene by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction.Results:
Eleven cases with hemophagocytosis were identified with hemophagocytic lymphohistiocytosis being ruled out. Six cases were classified as myelomonocytic leukemia, three as AML-M7 and two as AML-M2. In five cases, the presence of the MYST3-CREBBP fusion gene identified by molecular cytogenetics was confirmed by fluorescence in situ hybridization. All patients received treatment according to the Berlin-Frankfürt-Münster acute myeloid leukemia protocols and only one out of the five patients with the MYST3-CREBBP fusion gene is still alive.Conclusions:
Our findings demonstrate that the presence of hemophagocytosis in acute myeloid leukemia was not exclusively associated to the MYST3-CREBBP fusion gene. Improvements in molecular cytogenetics may help to elucidate more complex chromosomal rearrangements in infants with acute myeloid leukemia and hemophagocytosis.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Fagocitose
/
Leucemia Mieloide Aguda
/
Criança
Tipo de estudo:
Estudo diagnóstico
/
Guia de prática clínica
/
Estudo prognóstico
Idioma:
Inglês
Revista:
Rev. bras. hematol. hemoter
Assunto da revista:
Hematologia
Ano de publicação:
2016
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Brasil
Instituição/País de afiliação:
Instituto Nacional de Câncer/BR