Assuntos
Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 22/genética , Hepatoblastoma/diagnóstico , Cariotipagem/métodos , Leucemia Megacarioblástica Aguda/diagnóstico , Proteínas de Fusão Oncogênica/genética , Translocação Genética , Diagnóstico Diferencial , Hepatoblastoma/genética , Humanos , Lactente , Leucemia Megacarioblástica Aguda/genética , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/genética , Masculino , PrognósticoRESUMO
This paper chronicles a 2-year-old girl who presented with acute leukemia/lymphoma syndrome of the T cell immunophenotype. At this time, the cytogenetic analysis of her bone marrow cells showed a reciprocal translocation between the short arm of chromosome 12 and the long arm of chromosome 13, t(12;13)(p13;q14). The immunophenotyping of bone marrow blast cells by flow cytometry revealed a population of cells positive for CD56, CD117, CD45, partial CD33, partial HLA-DR, CD13, CD7, CD2 and CD5. Therefore, a diagnosis of acute leukemia with a mixed T cell/myeloid phenotype was made. The patient had a poor response to classic T cell acute lymphocytic leukemia/lymphoma therapy; thus, her treatment was changed to a myeloid leukemia protocol, which produced a good response. She underwent a successful cord blood transplantation from an unrelated HLA partially matched donor. The coexistence of these two phenotypes prompts questions about the existence of clonal instability, which might influence the choice of therapy. The rarity of the t(12;13)(p13;q14) and the coexistence of T cell/myeloid markers suggest a nonrandom association. To the best of our knowledge, this is the first reported case in which a cell clone bearing a t(12;13)(p13;q14) translocation in a mixed T cell/myeloid lesion was detected.