RESUMO
A variety of genetic alterations are considered hallmarks of cancer development and progression. The Ikaros gene family, encoding for key transcription factors in hematopoietic development, provides several examples as genetic defects in these genes are associated with the development of different types of leukemia. However, the complex patterns of expression of isoforms in Ikaros family genes has prevented their use as clinical markers. In this study, we propose the use of the expression profiles of the Ikaros isoforms to classify various hematological tumor diseases. We have standardized a quantitative PCR protocol to estimate the expression levels of the Ikaros gene exons. Our analysis reveals that these levels are associated with specific types of leukemia and we have found differences in the levels of expression relative to five interexonic Ikaros regions for all diseases studied. In conclusion, our method has allowed us to precisely discriminate between B-ALL, CLL and MM cases. Differences between the groups of lymphoid and myeloid pathologies were also identified in the same way.
Assuntos
Neoplasias Hematológicas/genética , Fator de Transcrição Ikaros/genética , Transcriptoma , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Processamento Alternativo , Criança , Pré-Escolar , Análise por Conglomerados , Progressão da Doença , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Neoplasias Hematológicas/diagnóstico , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Pessoa de Meia-Idade , Família Multigênica , Especificidade de Órgãos/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Isoformas de Proteínas , Adulto JovemRESUMO
La enfermedad hemolítica del recién nacido por incompatibilidad ABO es la más frecuente de todas las incompatibilidades de grupo sanguíneo entre la madre y el recién nacido. Se estudiaron 46 recién nacidos a término, afectos de esta enfermedad, que fueron diagnosticados en el Hospital General Enrique Cabrera entre junio de 2004 y marzo del 2006. El diagnóstico se realizó por examen físico, exámenes de laboratorio y exámenes inmunohematológicos: fenotipificación de grupo ABO, prueba de Coombs directa y el título de IgG anti-A/B materno. El 60,8 por ciento de los 46 recién nacidos afectados fueron de fenotipo A y procedían de madres de fenotipo O. El Coombs directo fue positivo en 2 casos y el título de IgG materno en estos casos fue mayor o igual a 1024. La fototerapia fue la modalidad de tratamiento más empleada. Aunque esta entidad es la menos grave de todos los conflictos de grupo sanguíneo entre la madre y el recién nacido, se debe estar alerta ante un curso inusual para poder brindar el tratamiento óptimo en el momento adecuado y disminuir la morbilidad(AU)
The hemolytic disease of the newborn due to ABO incompatibility is the most frequent of all the blood group incompatibilities between the mother and the infant. 46 infants at term, who were diagnosed this disease at Enrique Cabrera National Hospital from June 2004 to March 2006, were studied. The diagnosis was made by physical examination, lab tests and immunohematological tests: ABO phenotyping, direct Coombs test, and the maternal IgG anti-A/B titer. 60.8 percent of the newborn infants affected were phenotype A and their mothers were phenotype O. the direct Coombs test yielded positive in 2 cases. The maternal IgG titer in these cases was higher than or equal to 1024. Phototherapy was the most used treatment modality. Although this entity is the least severe of all the blood grouping conflicts between the mother and the infant, one should be alert before an unusual course to apply the optimal treatment at the right time to reduce morbidity
Assuntos
Humanos , Recém-Nascido , Eritroblastose Fetal/diagnóstico , Fototerapia/métodosRESUMO
La enfermedad hemolítica del recién nacido por incompatibilidad ABO es la más frecuente de todas las incompatibilidades de grupo sanguíneo entre la madre y el recién nacido. Se estudiaron 46 recién nacidos a término, afectos de esta enfermedad, que fueron diagnosticados en el Hospital General Enrique Cabrera entre junio de 2004 y marzo del 2006. El diagnóstico se realizó por examen físico, exámenes de laboratorio y exámenes inmunohematológicos: fenotipificación de grupo ABO, prueba de Coombs directa y el título de IgG anti-A/B materno. El 60,8 por ciento de los 46 recién nacidos afectados fueron de fenotipo A y procedían de madres de fenotipo O. El Coombs directo fue positivo en 2 casos y el título de IgG materno en estos casos fue mayor o igual a 1024. La fototerapia fue la modalidad de tratamiento más empleada. Aunque esta entidad es la menos grave de todos los conflictos de grupo sanguíneo entre la madre y el recién nacido, se debe estar alerta ante un curso inusual para poder brindar el tratamiento óptimo en el momento adecuado y disminuir la morbilidad.
The hemolytic disease of the newborn due to ABO incompatibility is the most frequent of all the blood group incompatibilities between the mother and the infant. 46 infants at term, who were diagnosed this disease at Enrique Cabrera National Hospital from June 2004 to March 2006, were studied. The diagnosis was made by physical examination, lab tests and immunohematological tests: ABO phenotyping, direct Coombs test, and the maternal IgG anti-A/B titer. 60.8 percent of the newborn infants affected were phenotype A and their mothers were phenotype O. the direct Coombs test yielded positive in 2 cases. The maternal IgG titer in these cases was higher than or equal to 1024. Phototherapy was the most used treatment modality. Although this entity is the least severe of all the blood grouping conflicts between the mother and the infant, one should be alert before an unusual course to apply the optimal treatment at the right time to reduce morbidity.
