Made available in DSpace on 2014-12-17T14:16:29Z (GMT). No. of bitstreams: 1 EricaAG_DISSERT.pdf: 1548086 bytes, checksum: c8d01670d1a770711f3300b93e502612 (MD5) Previous issue date: 2011-07-01 / Conselho Nacional de Desenvolvimento Cient?fico e Tecnol?gico / Leukemia is a heterogeneous group of hematologic malignancies that result from partial or total transformation of the blast cells. The Acute Lymphoblastic Leukemia (ALL) is the most common malignancy in childhood, especially in male, Caucasian children younger than 14 years. Several criteria are adopted to classify ALL, including the cell morphology, cytochemistry, immunophenotyping and cytogenetic analysis. Cytogenetic studies allow a more detailed analysis to detect chromosomal abnormalities of leukemic cells. These modifications will determine the diagnosis, classification, stage characterization, remission assessment and prognosis. In this study were evaluated 30 patients, aged from four months to seventeen years, of both sexes and various ethnicities. The age distribution showed that 67% of patients had between one and ten years (with mean age of XX years old), the most prevalent ethnic was Caucasian (50%) and 57% were males. According to immunophenotype, 93% of patients had B-cells progenitor ALL and 7% early lineage T. Considering the total studied population, the most frequent medical findings were lymphadenopathy (37%), hepatomegaly (77%) and splenomegaly (70%), where one patient could present more than one of these medical findings. Regarding the CBC, the majority of patients had hemoglobin below 10 g / dl (73%), leukocyte count less than 10.000/μL (60%) and platelet count below 150.000/μL (83%). Chromosomal abnormalities were observed in 64% of all patients, where hyperdiploidy was the most common numerical change (67%), followed by hypodiploid (33%). All these data are in agreement with the literature. Moreover, complexes structural and/or number changes not yet described in literature were observed, which indicated poor prognosis. Finally, we concluded that this study demonstrated the importance of cytogenetic study in the diagnosis and identification of prognostic factors in pediatric patients with ALL in Rio Grande do Norte. The results obtained in this study are extremely useful and emphasizes that surveys of this nature must be conducted more frequently in our state / As leucemias s?o grupos heterog?neos de neoplasias hematol?gicas, que resultam da transforma??o total ou parcial das c?lulas bl?sticas. A Leucemia Linf?ide Aguda (LLA) ? a neoplasia mais comum na inf?ncia, principalmente na popula??o masculina caucasiana menor de 14 anos. V?rios crit?rios podem ser adotados para classificar LLA, dentre eles a morfologia celular, a citoqu?mica, a imunofenotipagem e o estudo citogen?tico. A citogen?tica permite uma an?lise mais detalhada o que possibilita detectar as altera??es cromoss?micas das c?lulas leuc?micas. Estas altera??es ir?o auxiliar no diagn?stico, na classifica??o, na caracteriza??o de diferentes est?gios, na avalia??o da remiss?o e no progn?stico dessas neoplasias. Foram avaliados neste estudo 30 pacientes com idade variando de quatro meses a dezessete anos, de ambos os sexos e de v?rias etnias. A faixa et?ria predominante neste estudo foi de pacientes entre um e dez anos (67%) com m?dia de idade de 7 anos e meio, de etnia caucasiana (50%) e sexo masculino (57%). De acordo com a imunofenotipagem 93% dos pacientes apresentaram LLA de linhagem B precoce e 7% de linhagem T. Considerando a popula??o total estudada, os achados cl?nicos mais freq?entes foram linfoadenopatia (37%), hepatomegalia (77%) e esplenomegalia (70%), podendo, em muitos casos um paciente apresentar mais de um desses achados. Em rela??o ao hemograma, a maioria dos pacientes apresentou hemoglobina abaixo de 10 g/dl (73%), contagem de leuc?citos inferior a 10.000/μL (60%) e contagem de plaquetas abaixo de 150.000/μL (83%). As anormalidades cromoss?micas foram observadas em 64%, dessas a hiperdiploidia foi ? altera??o num?rica mais comum (67%), seguida pela hipodiploidia com 33%. Todos esses dados corroboram com os relatos da literatura. Adicionalmente, foram observadas altera??es estruturais e/ou num?ricas complexas ainda n?o descritas na literatura, as quais indicaram progn?stico desfavor?vel. Conclui-se que a partir deste trabalho foi poss?vel demonstrar a import?ncia do estudo citogen?tico no diagn?stico e na identifica??o de fatores progn?sticos nos pacientes pedi?tricos com LLA do Rio Grande do Norte. Os resultados obtidos neste estudo s?o de extrema import?ncia e ressaltam que pesquisas desta natureza devem ser realizadas com maior freq??ncia em nosso Estado