RESUMEN
Estudos epidemiológicos sobre Síndromes Mielodisplásicas (SMD) não são encontrados na literatura brasileira, o que requer investigação dessa doença prevalente em idosos e com incidência maior com o aumento da idade. Esse trabalho objetivou investigar o perfil sociodemográfico e clínico dos pacientes portadores de SMD. Tratase de um corte transversal, desenvolvido no Rio Grande do Norte, realizado de janeiro de 2000 a dezembro de 2010. Para análise descritiva foi utilizado o programa Epi Info 2002, versão 3.5.2. Os cálculos da probabilidade de associação entre as características analisadas e o gênero foram realizados pelos Testes do qui-quadrado, de Fisher e Exato de Fisher. O nível de significância considerado foi de 0,05. O trabalho foi aprovado em seus aspectos éticos e metodológico pelo Comitê de Ética em Pesquisa CEP/HUOL protocolo 432/10. Dos 29 pacientes selecionados, houve predomínio de idosos, do sexo masculino, com baixa escolaridade, que apresentaram anemia como sintoma inicial. A maior parte foi de pessoas de pele branca, residentes em casa própria, moradores em zona urbana e com renda inferior a dois salários mínimos. Todos utilizaram terapia com hemoderivados, principalmente o concentrado de hemácias, numa frequência de quatro ou mais unidades por mês de consumo, sendo que 20% realizou dosagem de ferritina sérica, todos com valores acima do normal referenciado. Conclui-se que se faz necessário a realização de pesquisas com maiores populações, de caráter multicêntrico a fim de melhor evidenciamento dos dados sociodemográficos e clínicos com possibilidade de avaliação por regiões do país.
Epidemiological studies on Myelodysplastic Syndromes (MDS) are not found in Brazilian literature, which requires investigation of this prevalent disease in the elderly and higher incidence with increasing age. This study aimed to investigate the sociodemographic and clinical characteristics of patients with MDS to characterize this population at a referral center for high complexity. It is a cross-performed from January 2000 to December 2010. For descriptive analysis was conducted using Epi Info 2002, version 3.5.2. The calculations of the likelihood of association between the characteristics analyzed and gender were performed using the chi-square, Fisher and Fisher's Exact. The level of significance was 0.05. The study was approved in its ethical aspects and the methodological Ethics Committee in Research ECR/HUOL Protocol 432/10. We selected 29 patients. The sample was characterized mainly by elderly male with lower education, who had anemia as initial symptom. Most were white-skinned people living in their own homes, residents in urban areas and with income less than two minimum wages. All blood products used therapy, especially red blood cells, a frequency of four or more units per month of consumption. Only 20% performed dosage of serum ferritin, all with values referenced above normal. We conclude that it is necessary to conduct research with larger populations, multicenter character in order to best evidence on the demographic data and clinical evaluation with the possibility of the country.
Asunto(s)
Preleucemia , Síndromes Mielodisplásicos , Anemia Refractaria , Dinámica Poblacional , EpidemiologíaRESUMEN
Los síndromes mielodisplásicos (SMD) comprenden un grupo heterogéneo de desordenes hematólogicos con riesgo de evolución a leucemia mieloide aguda (LMA). El Grupo Franco-Americano-Británico (FAB) los clasifica en cinco entidades morfológicas y el Sistema Pronóstico Internacional (IPSS) propone cuatro grupos de riesgo basándose en variables clínicas y citogenéticas. El objetivo del trabajo fue evaluar la aplicación del IPSS en población Argentina, analizar el valor pronóstico de sus variables y determinar si dicho sistema permite identificar subgrupos pronósticos de riesgo dentro de los subtipos FAB. Se evaluaron 234 pacientes con SMD de novo (Media de seguimiento: 28 meses), con el fin de determinar sobrevida (SV) y sobrevida libre de LMA (SLL). Se analizaron la clasificación FAB y el IPSS, así como sus variables (número de citopenias, porcentaje de blastos, grupos de riesgo citogenético). Los resultados mostraron diferencias significativas para SV y SLL. La aplicación del IPSS permitió la diferenciación de los cuatro grupos de riesgo y ayudó a identificar subclases pronósticas dentro de los subtipos FAB: 5 , 15 y 19 por ciento de pacientes con peor pronóstico dentro de los subtipos Anemia Refractaria (AR), AR con sideroblastos en anillo (ARSA) y AR con exceso de blastos (AREB), respectivamente. El IPSS no fue informativo para el subtipo AREB en transformación, ni tampoco en pacientes con leucemia mielomonocítica crónica.
Asunto(s)
Humanos , Masculino , Adolescente , Adulto , Persona de Mediana Edad , Femenino , Leucemia Mieloide/epidemiología , Leucemia Mieloide/etiología , Preleucemia/epidemiología , Síndromes Mielodisplásicos/clasificación , Síndromes Mielodisplásicos/epidemiología , Síndromes Mielodisplásicos/genética , Argentina/epidemiología , Recuento de Células Sanguíneas , Examen de la Médula Ósea , Linaje de la Célula , Aberraciones Cromosómicas , Tablas de Vida , Progresión de la Enfermedad , Factores de Riesgo , Índice de Severidad de la Enfermedad , Análisis de SupervivenciaRESUMEN
We studied bone marrow stromal cell cultures from patients with childhood myelodysplastic syndromes (MDS, refractory anemia with excess of blasts, RAEB) and from matched normal donors. Stromal cell monolayers were characterized as myofibroblasts by the expression of smooth muscle alpha-actin, collagen IV, laminin and fibronectin. When normal cord blood cells were plated onto myelodysplastic stromas, a pathologic cell differentiation was observed, indicating altered myelosupportive properties. cDNA array analysis showed that patient stromas expressed increased levels of thrombospondin-1, collagen-I alpha2-chain, osteoblast-specific factor-2 and osteonectin, indicating the presence of increased osteoblast content, as confirmed by enhanced alkaline phosphatase synthesis. Alterations in the myelodysplastic stroma environment might contribute to abnormal hematopoiesis in this pathology.
Asunto(s)
Médula Ósea/patología , Regulación Neoplásica de la Expresión Génica , Hematopoyesis , Músculo Liso/patología , Síndromes Mielodisplásicos/patología , Células del Estroma/patología , Actinas/metabolismo , Fosfatasa Alcalina/metabolismo , Anemia Refractaria con Exceso de Blastos , Médula Ósea/metabolismo , Estudios de Casos y Controles , Diferenciación Celular , Niño , Preescolar , Colágeno Tipo IV/metabolismo , Femenino , Sangre Fetal/química , Sangre Fetal/metabolismo , Fibroblastos/patología , Fibronectinas/metabolismo , Perfilación de la Expresión Génica , Humanos , Técnicas In Vitro , Lactante , Laminina/metabolismo , Masculino , Músculo Liso/metabolismo , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/metabolismo , Análisis de Secuencia por Matrices de Oligonucleótidos , Osteoblastos/metabolismo , Preleucemia , Células del Estroma/metabolismoRESUMEN
BACKGROUND AND OBJECTIVES: Myelodysplastic syndromes (MDS) comprise a group of heterogeneous hematologic disorders with risk of leukemic evolution (LE). The French-American-British (FAB) co-operative group classifies them into five morphologic entities and the International Prognostic Scoring System (IPSS) proposes four groups of risk on the basis of clinical and cytogenetic variables. The aim of this study was to evaluate the application of the IPSS in our Argentine population, to test the prognostic value of its variables and to determine whether this score helps to associate prognostic subgroups of risk into FAB subtypes. DESIGN AND METHODS: Two hundred and thirty-four patients with primary MDS and a median follow-up of 28 months were evaluated using univariate analyses to determine median survival (SV) and the time to LE. The variables analyzed were FAB classification, IPSS, percentage of myeloblasts, cytogenetic groups of risk and number of cytopenias. RESULTS: Univariate analyses showed that all variables analyzed were predictive for SV and for LE in our MDS population. Application of the IPSS allowed discrimination into the 4 groups of risk and helped to identify prognostic subclasses among the FAB classification, associating 5%, 15% and 19% of cases with worse prognosis within the FAB classification of refractory anemia (RA), RA with ringed sideroblasts and RA with excess of blasts (RAEB), respectively. The IPSS was not informative for RAEB in transformation cases and would not be applied to patients with chronic myelomonocytic leukemia. INTERPRETATION AND CONCLUSIONS: This score could be applied to our MDS population, showing no geographic differences. Stratification of FAB patients according to IPSS would be helpful to develop risk-adapted therapeutic strategies.
Asunto(s)
Leucemia Mieloide/epidemiología , Síndromes Mielodisplásicos/epidemiología , Preleucemia/epidemiología , Índice de Severidad de la Enfermedad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Aneuploidia , Argentina/epidemiología , Recuento de Células Sanguíneas , Médula Ósea/patología , Examen de la Médula Ósea , Linaje de la Célula , Aberraciones Cromosómicas , Progresión de la Enfermedad , Femenino , Humanos , Cariotipificación , Leucemia Mieloide/etiología , Tablas de Vida , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/clasificación , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/patología , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Análisis de SupervivenciaRESUMEN
BACKGROUND AND METHODS: We analyze myelodysplastic patients with the 5q- marker as sole abnormality, or with additional anomalies, and their relationship to clinical evolution. The study was performed on 12 patients (6 females and 6 males): 3 with refractory anemia (RA), 5 with RA with ring sideroblasts (RA-S), 3 RA with excess of blasts (RAEB) and 1 with RAEB in transformation (RAEB-T). The cytogenetic study was carried out on bone marrow cells at the time of diagnosis. The G- banding technique was used for chromosome identification. The follow-up was for 50 months. RESULTS AND CONCLUSIONS: Five patients (3 with RA and 2 with RA-S) showed a single 5q- marker. They had a long survival without evolution to leukemia. All cases with 5q- plus additional abnormalities: del(12p), del(7q), del(14q), i(11q) and i(17q), showed a neoplastic evolution in a short period of time. We can conclude that the presence of the 5q- marker with complex karyotypes or additional abnormalities is associated with a high risk of neoplastic evolution, indicating the prognostic value of cytogenetic study in myelodysplasia.
Asunto(s)
Anemia Refractaria/patología , Aberraciones Cromosómicas , Deleción Cromosómica , Cromosomas Humanos Par 5/ultraestructura , Leucemia Mieloide Aguda/genética , Preleucemia/genética , Anciano , Anemia Refractaria/genética , Femenino , Humanos , Leucemia Mieloide Aguda/epidemiología , Masculino , Persona de Mediana Edad , Pronóstico , Estudios RetrospectivosRESUMEN
T cryptantigen can be exposed on the red cell membrane as a result of removal of terminal glycosides, either by bacterial enzymes or by incomplete synthesis of the cell membrane due to somatic mutation, usually caused by a neoplasm. T-activated erythrocytes have been observed in different pathologies, but they have not been seen associated with other abnormalities of red blood cell proteins described in myelodysplastic syndromes or acute leukaemias. A patient with initial diagnosis of refractory anaemia that evolved into erythroleukaemia showed prolonged T-activation, a depressed A blood-group antigen and an increase of foetal haemoglobin, simultaneously. The evolutive pattern of T-activation suggests more an abnormal erythropoiesis than an enzymatic effect and a certain relationship with the haemolytic syndrome.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Anemia Refractaria/sangre , Antígenos de Carbohidratos Asociados a Tumores , Disacáridos/análisis , Hemoglobina Fetal/análisis , Leucemia Eritroblástica Aguda/sangre , Anemia Refractaria/patología , Antígenos de Neoplasias/análisis , Eritropoyesis , Femenino , Humanos , Leucemia Eritroblástica Aguda/etiología , Persona de Mediana Edad , Preleucemia/sangreRESUMEN
Fifty-six patients with blood disorders (23 with chronic myeloid leukemia, 14 with acute myeloblastic leukemia, seven with acute lymphoblastic leukemia, one with chronic lymphocytic leukemia, and 11 with preleukemia states) were studied. A quantitative and objective method of C band length analysis with well-matched controls was used. The C bands of chromosome pairs 1, 9, and 16 presented a normal distribution that was similar in patients and controls, whereas the Y chromosome presented an abnormal distribution. Smaller C bands in 1qh and higher indexes of intrapair heteromorphism in pairs 1 and 9 were detected in the CML group; the group of acute leukemias (myeloblastic and lymphoblastic) presented a smaller index only in pair 1qh. No other differences in length, heteromorphism, inversion frequency, or sex were detected.
Asunto(s)
Bandeo Cromosómico/métodos , Leucemia/genética , Preleucemia/genética , Adulto , Niño , Inversión Cromosómica , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 16 , Cromosomas Humanos Par 9 , Densitometría , Femenino , Humanos , Masculino , Cromosoma YRESUMEN
Se presentan los resultados citogenéticos de 22 trastornos hematológicos preleucémicos y leucémios, haciendo una revisión de las alteraciones cromosómicas más frecuentes y su implicación en la clínica, diagnóstico y evolución de la enfermedad. Se estudió 8 Leucemias Agudas (LA), 6 y 2 Eosinofilias. Las preparaciones cromosómicas se hicieron con técnica directa, los cromosomas oscilan entre 9 y 63 años. Los cromosomas más implicados en reestructuraciones y aneuploidías fueron el 9, el 22 y el 8 en 22,7% de casos; el 18 en 18,1%; el 17 en 9,09% y el resto de cromosomas: 5, 11, 15, 21 y otros inespecíficos del grupo C y D en 4,5% cada uno. Estos hallazgos translocación 8;14 en la LAL; la translocación 15;17, la t(8;21), y la trisomía 8 en la LANL; el cromosoma filadelfia (Ph) en la LMC; el marcador 5q- (deleción del brazo largo del cromosoma 5) y la trisomía 18 en los SMD; en las eosinofilias no se encontró alteraciones cromosómicas. Se hace tambien una breve revisión de datos de la literatura sobre los oncogenes secuenciales en los sitios de las reestructuracicones cromosómicas implicadas en las leucemias, como son los oncogenes c-fis y erb A1 en la translocación 15q22; 17q21 en las LANL, el c-fms en el 5q-yel c abl-bcr implicado en el cromosoma Ph, sobre los oncogenes se revisa la posible implicación en el desarrollo de los procesos malignos. Finalmentea se resalta la importancia de la citogenética y su idónea utilización en la clínica y la investigación