Transcripto E2A-PBX1 en paciente pediátrico con leucemia aguda híbrida linfoide b/mieloide / E2A-PBX1 transcript in pediatric patient with acute hybrid lymphoid b/myeloid leukemia

Las leucemias agudas representan un grupo heterogéneo de hemopatías malignas que pueden ser de origen linfoide o mieloide en dependencia del clon celular que da lugar al proceso maligno. Sin embargo, existen casos de leucemias agudas con fenotipo mixto donde coexisten características propias de más de un linaje celular y que se conocen hoy como leucemias agudas de fenotipo mixto. Se presenta el caso de un paciente que se diagnosticó como una leucemia aguda híbrida linfoide B/mieloide mediante citometría de flujo. Se encontró la presencia del gen de fusión E2A-PBX1 que se forma como consecuencia de una traslocación entre los cromosomas 1 y 19. El paciente, un niño de 20 meses de nacido, falleció a los 12 días de iniciados los primeros síntomas clínicos. Se conoce que esta anormalidad cromosómica está asociada a un pronóstico desfavorable, principalmente por la grave afectación del sistema nervioso central como en efecto ocurrió. Hasta donde se alcanzó a revisar, no se encontró un reporte similar en la literatura de una leucemia aguda híbrida linfoide B/mieloide positiva al gen defusión E2A-PBX1(AU)

The acute leukemias are an heterogenous group of malignant hemopathies diseases characterized by excessive proliferation of an inmature cellular clon. Depending of the myeloid or lymphoid origin of such clon, the acute leukemia could be classified in myeloid or lymphoid respectivement. However, there are cases of acute leukemias with mixed phenotype where immunologic markers of more than on elineage are present. In the patient of this report was founded a mixed immunophenotype pattern by flow cytometry and the entity was classified as acute hybrid lymphoid B/ mieloid leukemia. Basedon theinicial diagnostic of acutelymphoidleukemia, the molecular studydiscoveredthepresence of E2A-PBX1 fusion gen. That molecular anomaly is formed as consequence of a traslocation between the1 and 19 chromosomes. The patient, a child of 20 months, died 12 days afte rthe first clynic symptoms begining. E2A-PBX1 fusion gen is associated to unfavorable outcome, mainly because the severe damage at the central nervous system as in fact it occurred. Until it was possible review, no any similar report was founded about a case of acute hybrid lymphoidB/myeloid leukemia positive to the E2A-PBX1 fusion gen(AU)

Clinical study of acute mixed-lineage leukemia in 14 children

Acute mixed-lineage leukemia [AMLL] is characterized as the acute leukemia involved with acute myeloid cells and lymphoid cells at the same time. The AMLL is easily misdiagnosed because of a dual character involved with lymphoid and myeloid cells. At present, researches of AMLL in adults are more common. Only some are reported for children. Therefore, our aim was to study clinical characteristics of the childhood AMLL. From January 2000 to July 2009, 14 cases of AMLL children were selected by morphological and immunophenotyping methods from 185 cases of childhood acute leukemia admitted to the Department of Pediatrics, Tongji Hospital, Tongji Medical College of Science and Technology of Huazhong University. Medical records of all AMLL cases were reviewed for clinical characteristics. Fourteen cases of AMLL were screened from 185 cases of acute leukemia by morphology, immunology, cytogenetics and molecular [MICM]. The rate of childhood AMLL accounted for 7.57% of pediatric acute leukemia [AL] diagnosed in the research period; white blood cell count in most of the patients was normal, the average value being 31.0xl0[9]/L in the first visit. In the 14 cases of AMLL, 8 cases were B-Ly+/My+, 2 cases were T-Ly+/My+B, and 4 were T+B-Ly+/My+. Among them, nine cases received treatment. Consequently, 6 cases reached complete remission [CR]; 1 case had not complete remission; 2 cases did not complete the treatment. The diagnosis of AMLL should depend on the comprehensive evaluation of MICM. As there are still many problems concerning AMLL, it is very necessary that the research units collaborate with each other to improve the prognosis of childhood AMLL. The limitations and applications of the results are that they are only based on the patients of one hospital

Invasive Aspergillus flavus sinusitis: case report in a patient with biphenotypic acute leukemia / Sinusite invasiva por Aspergillus flavus: relato de um caso associado a leucemia aguda bifenotípica

Here we report a case of invasive pansinusitis with proptosis of the right eye caused by Aspergillus flavus in an immunocompromised patient with acute biphenotypic leukemia without aggressive therapy response.

Descreve-se um caso de pansinusite invasiva com proptose do globo ocular direito causado por Aspergillus flavus em um paciente imunossuprimido com leucemia aguda bifenotípica sem resposta a terapia agressiva.

Concurrencia de marcacion citoquimica e inmune de diferentes linajes celulares en casos de leucemias agudas / Concurrence of cytochemical and immune patterns of different cellular lineages in cases of acute leukemia

Se registra la sinonimia entre leucemia mixta, bilineal, biclonal e híbrida, diferenciándola de leucemia bifenotípica. Se define leucemia aguda mixta (LA mixta) como aquella en la que coexistem 1) dos caracteres citoquímicos de línea diferente, o 2) uno de ellos y más de uno inmunológico opuesto, o 3) más de uno inmunológico opuesto a otra línea inmune. Se aportan 7 casos (5 de LA mixta común y 2 de viraje postratamiento). Se concluye que el carácter mixto de una leucemia aguda empeora el pronóstico y se discute la selección de la terapêutica.

Biologia e perfil imunológico das leucemias

Já está bem estabelecido que as leucemias são grupos heterogeneos de neoplasias tanto do ponto de vista clínico como de seus aspectos biológicos. Com o advento de técnicas imunológicas, demonstrou-se que as leucemias agudas são modelos ideais para pesquisas que levam ao conhecimento mais profundo do sistema hematopoiético. Reconhecendo o valor de uma abordagem multidisciplinar para classificar e investigar a origem da célula leucêmica, nós descrevemos neste trabalho os conceitos morfológicos, citoquímicos, imunológicos, citogenéticos e moleculares mais utilizados nos estudos dessas neoplasias. Inicialmente, fizemos uma revisão dos princípios básicos e dos elementos que constituem o sistema hematopoiético, bem como dos mecanismos que podem originar a transformação malígna de uma linhagem celular. Descrevemos as diferenciações antigênicas das linhagens linfóides e mielóides, bem corno a metodologia que detecta moléculas específicas de subtipos celulares. Finalmente, selecionamos dez artigos publicados nos quais estão descritos nossa experiência na identificação e classificação de leucemias agudas e síndromes linfoproliferativas, utilizando urna abordagem multidiscinlinar conforme mencionada acima.

Leukemia has been recognized to be a hetereogeneous malignant disorder, both clinically and biologically. Acute leukemias have been at the forefront of clinicotherapeutic research providing models for understanding hemopoietic system and kinetcs of cell differentiation and malignant transformation. Recognizing the value of a multidisciplinary approach to the investigation of leukemic cell origin, we have described a study that encompasses morphology, cytochemistry, immunophenotyping, cytogenetics and molecular biology to characterize acute and peripheral leukemias. First, we have reviewed several statements of the biological principles which have led to a further understanding of hemopoiesis and possible mechanisms of leukemogenesis. Then we have described the basic concepts of current methodology that has been suggested as new approaches together with frequently used techniques to diagnose and classify leukemias. Finally, we selcted ten consecutive papers, that were published, describing our experience to identify and characterize acute undifferentiated leukemias and lymphoproliferative disorders, through multidisciplinary approaches.