RESUMO
ABSTRACT CONTEXT: Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. CASE REPORT: Here, we describe the case of a 61-year-old obese female with clinically diagnosed AML who presented a complex karyotype involving an uncommon abnormality: ring chromosome 11. Immunophenotypic analysis confirmed the diagnosis. Classical and molecular cytogenetic analyses, using GTG banding and FISH (fluorescence in situ hybridization), revealed the presence of complex structural rearrangement involving r(11), add(12)(p13), der(5) and der(13). CONCLUSIONS: Molecular cytogenetic analysis is suitable for better identification and characterization of chromosomal rearrangements in AML. Case reports like this, as well as population-based studies, are necessary for understanding the karyotypic changes that occur in humans.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Cromossomos em Anel , Leucemia Mieloide Aguda/genética , Translocação Genética , Hibridização in Situ Fluorescente , Análise Citogenética , CariótipoRESUMO
INTRODUCTION: Leptospirosis is a zoonotic disease found in tropical and temperate countries, and its clinical diagnostic confusion with arboviruses (dengue fever, oropouche fever and yellow fever), Brazilian spotted fever, viral hepatitis and hantaviruses has been an ongoing public health concern. The aim of this observational study was to demonstrate an association between findings of atypical lymphocytosis and the progression of endemic leptospirosis. METHODS: A retrospective analysis was performed on the demographic, epidemiological, clinical and laboratory aspects of 27 human leptospirosis cases that occurred over a period of 13 years (1996-2009) with no reported epidemic outbreaks in Rio de Janeiro, Brazil. RESULTS: The overall mortality rate was 11.1 percent in our cohort of hospitalized cases. However, there was no mortality among patients with atypical lymphocytosis (OR = 11.1; 95 percent CI = 1.12-110.9; p = 0.04). Two patients who were in the septicemic phase showed signs of expansion of γδ T cell responses in peripheral blood. CONCLUSIONS: Atypical lymphocytosis may be observed in patients with leptospirosis. Our observations suggest that these atypical leukocyte subsets are associated with partial protection during the disease course of leptospirosis.
INTRODUÇÃO: Leptospirose é uma zoonose que permanece endêmica em regiões tropicais e temperadas. A dificuldade no diagnóstico clínico diferencial entre os quadros de leptospirose humana e as várias arboviroses (dengue, febre amarela, febre de oropouche), febre maculosa brasileira, hepatite viral e hantavirose permanece um problema na Saúde Pública. MÉTODOS: No presente estudo, foi realizada análise retrospectiva de características demográficas, epidemiológicas, clínicas e laboratoriais de 27 casos de leptospirose humana que ocorrerem durante um período de 13 anos sem ocorrência de notificação de surtos epidêmicos no Rio de Janeiro, Brasil (1996-2009). RESULTADOS: A mortalidade da coorte de pacientes com leptospirose correspondeu a 11,1 por cento, sem embargo, o grupo de pacientes com atipia linfocitária não evoluiu para o óbito (OR = 11,1; 95 por cento CI = 1,12-110,9; p = 0.04). Em duas oportunidades, foi observada uma expansão dos linfócitos T gama-delta no sangue periférico de pacientes na fase septicêmica da leptospirose. CONCLUSÕES: Atipia linfocitária pode ocorrer em pacientes com leptospirose. Nossos dados também sugerem que os linfócitos atípicos podem estar envolvidos na patogênese da leptospirose.