Perfil sociodemográfico e clínico de portadores de síndromes mielodisplásicas / Sociodemographic and clinical profile of patients with myelodysplastic syndromes

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.

Detección de grupos de riesgo en síndromes mielodisplásicos. Un estudio multicéntrico / Detection of risk groups in myelodisplastic syndromes. A multicentric study

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.

Clinical and laboratory features of preleukemia patients / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To explore prospective diagnostic criteria for preleukemia.</p><p><b>METHODS</b>A case control study was done comparing the discrepancies on clinical and laboratory features between patients with preleukemia and those with chronic aplastic anemia (CAA) or atypical paroxysmal nocturnal hemoglubinuria (a-PNH).</p><p><b>RESULTS</b>There were eight variables of significance: (1) lymphocytoid micromegakaryocytes in the bone marrow; (2) immature granulocytes in the peripheral blood; (3) > or = 2.0% myeloblasts in the bone marrow; (4) positive periodic acid schiff (PAS) stained nucleated erythrocytes; (5) myeloid differentiation index > or = 1.8; (6) typical colonal karyotypic abnormalities; (7) negative sister chromatid differentiation; (8) cluster/colony ratio of granulocyte-macrophage colony-forming units (CFU-GM) > 4.0. The following criteria were assigned: A: to meet variable one and at least two of the other seven variables and B: to meet at least four of the eight variables. All of the patients with preleukemia met either A or B and none of the patients with CAA or a-PNH did.</p><p><b>CONCLUSIONS</b>Preleukemia is different from CAA or a-PNH. It has its own clinical and laboratory features, which may be useful for its prospective diagnosis.</p>

Pancytopenic prodrome (pre-ALL) of acute lymphoblastic leukemia in adults: possible pathogenesis

We report two cases of adult acute lymphoblastic leukemia presenting with preleukemic phase of pancytopenia with a few abnormal lymphoid cells in bone marrow aspirates. The initial diagnosis of each case was suspicious aplastic anemia and hypoplastic anemia. Both cases progressed to overt acute lymphoblastic leukemia within 1 year. We suggest that initial pancytopenic phase (pre-ALL) may precede the diagnosis of acute lymphoblastic leukemia in adults and differential diagnosis from myelodysplastic syndrome and primary aplastic anemia will be needed. We also suggest that primary bone marrow lymphoma and "primary unknown metastatic lymphoma of bone marrow" may be possible as the pathogenesis in a case like ours.

Childhood myelodysplasia.

The clinical data and hematological features of 29 children, under the age of 12 years, with primary myelodysplasia are presented. The diagnosis was made using the FAB (French-American-British) Cooperative Group criteria. There were 24 males and 5 females aged 4 months to 12 years (median 2.5 years) with marked male preponderance. Childhood myelodysplasia constituted 16% of all hematological malignancies and 36.7% of acute myeloid leukemias. The median duration of symptoms prior to diagnosis was 3 months. There were 15 cases of refractory anemia, one of refractory anemia with excess blasts, 3 of refractory anemia with excess blasts in transformation and 10 cases of chronic myelomonocytic leukemia. Five patients evolved to acute myeloid and 4 to acute lymphatic leukemia. The median duration of preleukemic phase in these patients was 7 months (range 4-29 months). The overall mean survival was short (5-9 months) in all the subgroups. Besides supportive therapy in most patients, two patients were treated with etoposide, one with alfa interferon 2b and one with high dose methylprednisolone. Our results show that myelodysplasia is not infrequent in children. The disease has an aggressive clinical course and may evolve into acute leukemia.

Les caracteristiques hematologiques des syndromes myelodysplasiques lors de la premiere presentation: etude retrospective de 14 cas

The haematological characteristics of 14 cases of primary my‚lodysplastic syndromes [MDS] were reviewed at initial presentation on the bases of FAB classification. The distribution according to the 5 types of MDS is: AR = 3 patients, ASAI = 3 patients, AREB = 4 patients, AREB-T-3 patients and LMMC = 1 patient. Two third of the patients are over 60 years. The anemia is present at all of patients, while the leukopenia and the thrombopenia are noted respectively in 28.4% and 53.8% of cases. The pancytop‚nia is noted in 28.4% of cases. The cytologic and histologic study of the bone marrow constitute they key of diagnosis. The bone marrow is normocellular or hyper- cellular in all of cases. The dyserythropoiesis is marked in the cases of AR and ASAI with Perls coloration strongly positive in the last [52% of total erythroblast]. In the other hand, the dysgranulopoiesis is important in the cases of AREB, AREB-T and LMMC, with expressive medullar blastosis [10% to 20%]

A clinical study of myelodysplastic syndrome in children

Myelodysplastic syndrome is a heterogeneous disease complex which is basically a clonal disorder and has characteristics of cytopenia of one or more cell series in peripheral blood and of dyspoiesis of precursors in bone marrow. Since the nature of this disease in childhood is very different from that in adults, retrospective clinical study was performed with 17 confirmed patients who were admitted to the Department of Pediatrics, Seoul National University Children's Hospital from June 1986 till October 1992. The results were as follows: 1) Themost frequent occurrence was found in preschool age group (76.5%), and male predominance was noted. 2) Hepatosplenomegaly was the most frequent clinical finding, and in view of laboratory findings, anemia waas found in all cases, and leukopenia in 5 cases, thrombocytopenia in 13cases were observed. Bone marrow aspiration revealed dyspoiesis of 3 cell series in almost all cases. The percentage of myeloblasts more than 5% of total bone marrow nucleated cells was seen in 8 cases on bone marrow study. 3) Subtypes of the disease were found to be 3 cases of RA, 6 cases of RAEB, 3 cases of RAEB-T, 4 cases of JCML, and 1 case of monosomy 7 syndrome. Chromosomal study was performed in 8 cases, and 6 of them were detected to be abnormal. 4) Supportive management was performed for almost all cases, and combined therapy with prednisolone and one-alpha for 3 cases, combined chemotherapy with various anticancer drugs for 7 cases, and low dose cytarabine therapy (10 mg/m2/12 hr) for 6 cases were performed. 5) There were 3 cases of drop out, 8 cases followed up on not remitted state, 5 cases of death, and 2 cases followed up on complete remission state. Two cases in complete remission were one of RA patients, and one of JCML patients, to whom prednisolone with one-alpha, and combined chemotherapy with A-Triple-V regimen were applied as treatment modalities, respectively. 6) Average duration of follow up for 10 survival cases was 18.2 months and a significant difference of 2 year survival rate was found in between the group composed of RA, RAEB and the other group composed of remained subtypes.

A case of pre-leukaemia masquerading as haemolytic anaemia due to multi-enzymopathy of the red cell.

A 19 year old woman presented as a case of haemolytic anaemia due to multi-enzyme deficiency of the erythrocyte. After a transient improvement with folic acid therapy, she developed acute myeloblastic leukaemia. This is the second reported case of a myelodysplastic syndrome presenting with a haemolytic picture and subsequently developing an acute myeloblastic leukaemia.

Hallazgos citogenéticos en veintidos trastornos hematologicos preleucemicos y leucemicos

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

A Case of Preleukemia Presenting as Aplastic Anemia

No abstract available.