RESUMO
Acute basophilic leukaemia is an uncommon form of acute leukaemia, rarely occurring as de novo disease. Due to rarity of the disease, consistent diagnostic criteria for the identification of this entity still remain the topic of discussion. Immunophenotypic profile, electron microscopy and cytogenetic analysis in addition to morphological features, are said to be highly desirable for correct identification of this entity. In set-up like ours, where such facilities are either not available or not in reach of the patients due to financial constraints, morphological features and simple technique like demonstration of metachromasia in blasts with toluidine blue stain remain the most useful diagnostic tool for identification of this rare condition. We present a case of acute basophilic leukaemia with (11q23)-MLL gene rearrangement, in an 18-year-old male with review of literature and discussion of diagnostic criteria.
Assuntos
Adolescente , Corantes , Rearranjo Gênico , Humanos , Leucemia Basofílica Aguda/diagnóstico , Masculino , Proteína de Leucina Linfoide-Mieloide/genética , Coloração e Rotulagem , Cloreto de TolônioRESUMO
Presentamos una paciente de 41 años, portadora de leucemia mastocitaria, sin antecedentes previos de leucemia mieloide crónica, ni manifestaciones cutáneas iniciales. La enfermedad estaba asociada a una tuberculosis peritoneal y hepática, que curó espectacularmente. La enfermedad principal se complicó con la aparición de lesiones cutáneas viscerales y ganglionares. Se trató con inhibidores de degranulación de mastocitos sin ningún resultado. El cuadro se agravó con aparición de tumores cutáneos, urticaria, diarrea intratable y severo deterioro. La autopsia reveló: mastocitosis generalizada en ganglios linfáticos, hígado, brazo, pulmones, médula ósea y piel. En el corazón y riñones se demostró aspergilosis marcada