RESUMO
BACKGROUND: Ewing sarcoma breakpoint region 1 gene (EWSR1) rearrangements are largely associated with the Ewing sarcoma family of tumors. OBSERVATIONS: We report the first case of infantile, mixed phenotype acute leukemia, B/myeloid (bilineal and biphenotypic [B-lymphoid and B-lymphoid/myeloid]), with a t(2;22)(q35;q12). The EWSR1-fifth Ewing variant gene fusion and nonsense mutation in STAG2 were detected by next-generation sequencing and markedly high expression of fifth Ewing sarcoma variant mRNA detected by quantitative reverse transcription polymerase chain reaction. The patient was treated with a combined myeloid/lymphoid leukemia regimen followed by allogeneic stem cell transplant and was in complete remission at 3.8-year follow-up. CONCLUSIONS: Our case study underscores the importance of a comprehensive evaluation of acute leukemia and provides insights into the phenotype of EWSR1 rearranged neoplasms in the context of partner genes and cell type.
Assuntos
Proteínas de Ligação a DNA/genética , Leucemia Aguda Bifenotípica/genética , Leucemia Mieloide Aguda/genética , Proteínas de Fusão Oncogênica/genética , Proteína EWS de Ligação a RNA/genética , Fatores de Transcrição/genética , Proteínas de Ciclo Celular/genética , Códon sem Sentido , Feminino , Humanos , Lactente , Translocação GenéticaRESUMO
Copper deficiency is a rare cause of sideroblastic anemia and neutropenia that often is not suspected clinically. The morphologic findings in bone marrow, while not pathognomonic, are sufficiently characteristic to suggest the diagnosis, leading to further testing to establish the correct diagnosis. Excess zinc ingestion is among the causes of copper deficiency. We present 3 cases of zinc-induced copper deficiency in which the diagnosis first was suggested on the basis of bone marrow examination. The first patient was a 47-year-old man with a debilitating peripheral neuropathy that had progressed during the previous 18 months, mild anemia, and severe neutropenia. The second was a 21-year-old man receiving zinc supplementation for acrodermatitis enteropathica in whom moderate normocytic anemia and neutropenia developed. The third patient was a 42-year-old man with anemia, severe neutropenia, and a peripheral neuropathy that had progressed during 8 months. The bone marrow findings in all cases suggested copper deficiency, which was confirmed by further laboratory testing and determined to be due to zinc excess. The morphologic features, clinical manifestations, differential diagnosis, and pathogenetic mechanisms are discussed.
Assuntos
Medula Óssea/patologia , Cobre/deficiência , Zinco/efeitos adversos , Adulto , Anemia Sideroblástica/etiologia , Biópsia , Exame de Medula Óssea , Cobre/metabolismo , Diagnóstico Diferencial , Humanos , Masculino , Metalotioneína/metabolismo , Pessoa de Meia-Idade , Neutropenia/etiologia , Doenças do Sistema Nervoso Periférico/etiologia , Zinco/metabolismoRESUMO
A paracentric inversion in the long arm of chromosome 5, inv(5)(q13q33), was found as a clonal abnormality in a patient with a treatment-resistant biphenotypic acute leukemia with B-lymphoid and myeloid differentiation. This cytogenetic aberration has not been reported previously in biphenotypic acute leukemia, although rearrangements of chromosome bands q13 and q33 have been implicated in the development of several hematologic malignancies. The presence of this aberration as the sole chromosomal abnormality suggests an important role in the pathogenesis of biphenotypic acute leukemia.
