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3.
Leuk Res Treatment ; 2012: 292043, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23198157

RESUMO

The influence of genic polymorphisms involved in metabolism of chemotherapeutic agents as the methotrexate (MTX) has been studied mainly in acute lymphoblastic leukemia (ALL) of childhood. Advances in treatment may be attributed to identification of prognostic factors added to chemotherapy protocol. The aim of this study was to analyze the association of the C677T, A1298C, and G80A polymorphisms on MTHFR gene and on the overall survival of pediatric patients (n = 126) with lymphoblastic leukemia treated with MTX according to the Brazilian protocol in 187 months. The C677T and G80A polymorphisms were genotyped by PCR-RFLP and A1298C polymorphism by allele-specific PCR. We observed that ALL patients presented rate (dead/alive) of 0.36 for the 677CC genotype, corresponding also to lower overall survival (P = 0.0013); on the other hand, the 677TT genotype showed a better survival (98%). Thus, we believe that patients with 80AA genotype presented a small reduction in MTX plasma level, suggesting that ALL children, carrying the 80AA genotype, showed a high toxicity to MTX (P < 0.0001).

4.
Case Rep Genet ; 2012: 186532, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23074685

RESUMO

Acute lymphoblastic leukemia (ALL), CD10+ B-cell precursor, represents the most frequent type of childhood ALL from 3 to 6 years of age. The t(12;21)(p13;q22) occurs in 25% of cases of B-cell precursor ALL, it is rare in children less than 24 months and have been related to good prognosis. Some relapse cases and unfavorable prognosis in ALL CD10+ are associated with t(12;21) bearing additional aberrations as extra copies of chromosome 21 and ETV6 gene loss. This report describes the case of a 15 month-year old girl, who displayed a karyotype with addition on chromosome 12p plus trisomy 10 and tetrasomy of chromosome 21. Molecular cytogenetic studies revealed two extra copies of the der(21) t(12;21), trisomy 10 and deletion of the second ETV6 gene due to the dic(12;18). These findings show the great importance of molecular cytogenetic studies to clarify complex karyotypes, to define prognostic, to carry out risk group stratification and to support correctly disease treatment in childhood acute lymphoblastic leukemia.

5.
Cancer Genet Cytogenet ; 200(2): 167-9, 2010 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-20620601

RESUMO

Acute myeloid leukemia in childhood is a heterogeneous group of diseases, and different epidemiologic factors are involved in the etiopathogenesis. Genetic syndromes are one of the predisposing factors of acute myeloid leukemia (AML), including Down syndrome, Bloom syndrome, and neurofibromatosis. Acute megakaryoblastic leukemia (AMKL) is the main subtype in Down syndrome infants, and acquired chromosomal anomalies are closely related to the physiopathology of the illness. The main chromosomal anomalies in AMKL are structural, such as t(1;22); however, complex karyotypes are also common. Here we describe the case of an infant with neurofibromatosis developing AMKL with a complex karyotype including 5q and 17q deletions, TP53 deletion, and an unusual unbalanced chromosomal translocation t(11;19)(q13;p13), leading to three copies of the MLL gene.


Assuntos
Hibridização in Situ Fluorescente/métodos , Leucemia Megacarioblástica Aguda/genética , Neurofibromatoses/genética , Feminino , Genes p53 , Histona-Lisina N-Metiltransferase , Humanos , Lactente , Cariotipagem , Proteína de Leucina Linfoide-Mieloide/genética
6.
Rev. bras. saúde matern. infant ; 7(4): 413-421, out.-dez. 2007. graf, tab
Artigo em Português | LILACS-Express | LILACS | ID: lil-473581

RESUMO

OBJETIVOS: descrever características clínico-laboratoriais, determinar taxas de resposta ao tratamento e identificar fatores de risco que influenciaram na sobrevida de pacientes pediátricos com leucemia linfóide aguda (LLA). MÉTODOS: estudo retrospectivo do tipo série de casos com 108 pacientes de idade até 18 anos, admitidos para tratamento de LLA na Fundação de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Brasil, de janeiro de 1993 a dezembro de 2001. As variáveis analisadas foram: sexo, idade, principais sintomas e sinais, leucometria, imunofenótipo e grupo de risco ao diagnóstico, taxas de remissão e recaída, óbito e sobrevida global, local de recaída e fatores de risco para a sobrevida. Medidas descritivas foram usadas para a análise estatística. O tempo de sobrevida dos pacientes foi estimado através da função de sobrevida de Kaplan-Meier e Log-Rank. O efeito de fatores de risco no tempo de sobrevida foi avaliado através do Modelo de Regressão de Cox. RESULTADOS: foi encontrada a relação masculino:feminino de 1,7:1, mediana de idade ao diagnóstico de oito anos, freqüência de queixas músculo-esqueléticas (51 por cento), infiltração do sistema nervoso central (8 por cento), LLA-Precursor B (81 por cento) e LLA-T (19 por cento). A distribuição dos grupos correspondeu a Risco Básico Verdadeiro (12 por cento), Risco Básico (21 por cento) e Alto Risco (67 por cento). As principais taxas foram: remissão (86 por cento), óbitos na indução (5,5 por cento), recaída (24 por cento) e sobrevida global (62,5 por cento). CONCLUSÕES: a variável de impacto na sobrevida foi a leucometria. A taxa de sobrevida global foi influenciada pela freqüência elevada de pacientes considerados de alto risco.


OBJETIVES: to describe the clinical and laboratory characteristics, determine rates of response to treatment and pinpoint risk factors that influence the survival of pediatric patients with acute lymphoblastic leukemia (ALL). METHODS: this is a retrospective series of case studies involving 108 patients aged 18 years or under hospitalized for ALL treatment at the Fundação de Hematologia e Hemoterapia de Pernambuco (HEMOPE), Brazil, between January 1993 and December 2001. The following variables were analyzed: gender, age, main symptoms and signs, white blood-cell count, immunophenotype and risk group on diagnosis; rates of remission and relapse, death and overall survival; place of relapse and risk factors for survival. Descriptive measurements were used for the statistical analysis. The patient survival time was estimated using the Kaplan-Meier survival function and Log Rank. The effect of risk factors on survival time was evaluated using the Cox Regression Model. RESULTS: the results showed a male:female ratio of 1.7:1, a median age of eight years on diagnosis, the frequency of musculoskeletal complaints was 51 percent, of infiltration of the central nervous system 8 percent, of ALL-Precursor B 81 percent and ALL-T 19 percent. The distribution of the groups corresponded to True Basic Risk (12 percent), Basic Risk (21 percent) and High Risk (67 percent). The rates of remission, relapse and overall survival were 86 percent, 24 percent and 62.5 percent, respectively. CONCLUSIONS: the variable having an impact on overall survival was the white blood-cell count. The overall survival rate in the study was influenced by the high frequency of high-risk patients.

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