RESUMO
We describe 2 patients, a 4-month-old male and a 17-month-old female, with de novo acute megakaryoblastic leukemia with increased number of hematogones at diagnosis. Both children were admitted in the hospital with thrombocytopenia. The bone marrow smears in the first child revealed the presence of 60% cells with morphologic features consistent with acute megakaryoblastic leukemia. In the other, the initial bone marrow aspirate was dry tap but on the following aspirate 10% cells with lymphoblastic morphology could be seen. The bone marrow flow cytometry showed the presence of hematogones-38% in the first case and 20% in the second-with absence of blasts. Repeated bone marrow aspirates, trephines, and immunophenotypic as well as molecular studies, confirmed the diagnosis of M7. Both children were treated according to the Berlin-Frankfurt-Munster 2004 protocol.
Assuntos
Medula Óssea/patologia , Leucemia Megacarioblástica Aguda/patologia , Células Precursoras de Linfócitos B/patologia , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Asparaginase/administração & dosagem , Terapia Combinada , Transplante de Células-Tronco de Sangue do Cordão Umbilical , Daunorrubicina/administração & dosagem , Evolução Fatal , Feminino , Citometria de Fluxo , Humanos , Imunofenotipagem , Lactente , Leucemia Megacarioblástica Aguda/diagnóstico , Leucemia Megacarioblástica Aguda/tratamento farmacológico , Leucemia Megacarioblástica Aguda/cirurgia , Transfusão de Linfócitos , Masculino , Prednisona/administração & dosagem , Prognóstico , Recidiva , Trombocitopenia/etiologia , Vincristina/administração & dosagemRESUMO
SUMMARY: We report a case of acute myeloid leukemia with morphologic features of M7 according to the FAB (French-American-British) classification and severe eosinophilia in the peripheral blood and bone marrow at diagnosis. We consider it as congenital leukemia, as the symptoms started in the first month of life of the affected child. This case of leukemia is characterized by t(3;4;6)(q26;q25;q21) cytogenetic abnormality. The blasts in flow cytometry analysis expressed markers of megakaryocytic lineage along with expression of myeloperoxidase in 30% of them. This type of acute myelogenous leukemia with severe eosinophilia can be considered as a distinct clinicopathologic entity.
Assuntos
Eosinofilia/genética , Leucemia Mieloide Aguda/congênito , Leucemia Mieloide Aguda/genética , Separação Celular , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 6/genética , Paralisia Facial/etiologia , Citometria de Fluxo , Humanos , Imunofenotipagem , Lactente , Recém-Nascido , Leucemia Mieloide Aguda/complicações , Masculino , Translocação GenéticaRESUMO
Dyskeratosis congenita (DC) is a rare disease characterised by bone marrow failure and skin manifestations. Patients with DC may exhibit short stature that is not usually related to growth hormone (GH) deficiency. Replacement treatment with GH should be done cautiously as it can predispose to haematological malignancy. We present a 10-year-old boy with DC and GH deficiency.
