RESUMO
Acute Myeloid Leukemia (AML) is a complex and highly aggressive disease. To characterize the prognostic factors of pediatric patients with AML relapse, a retrospective cohort study was performed to collect data from children and adolescents, at a hematological oncology reference center, over 11 years. We selected 51 cases of the disease, diagnosed and treated uniformly, divided into two groups: with complete remission (n = 33; 65 %) and with relapse (n = 18; 35 %). The groups were homogeneous concerning demographic characteristics and hematological parameters at diagnosis. AML M3 was the most common subtype (n = 19; 37 %) and was associated with a good prognosis. The highest rate of relapse was with AML M0 (n = 3 of 5 patients; 60 %). The most predominant gene mutation, FLT3-ITD, did not influence the prognosis in our study. The complete remission group presented a higher mean frequency of positive cells for the granulocytic marker CD13a at diagnosis. In cases with AML relapse, CD36, CD4, CD7, and CD22 were the most expressed markers. Increase incidence of recurrence was associated with CD7 (HR 1.035; p = 0.003), CD4 (HR 1.032, p = 0.001) and CD22 (HR 1.042; p = 0.049). Our results highlight the importance of analyzing immunophenotypic markers to help predict the outcome of AML in children and adolescents.
Assuntos
Biomarcadores Tumorais , Leucemia Mieloide Aguda/metabolismo , Leucemia Mieloide Aguda/mortalidade , Linfócitos/metabolismo , Fatores Etários , Diagnóstico Diferencial , Gerenciamento Clínico , Granulócitos/metabolismo , Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/etiologia , Linfócitos/imunologia , Mutação , Prognóstico , Resultado do TratamentoRESUMO
Introdução: O principal objetivo deste estudo foi identificar as características clínicas dos pacientes transplantados na instituição e avaliar os resultados obtidos com a infusão autóloga de células-tronco hematopoiéticas do sangue periférico (CTHSP), a mortalidade relacionada ao transplante (MRT) e a sobrevida global (SG). Métodos: Através da revisão e avaliação retrospectiva dos prontuários dos 120 pacientes submetidos a transplante autólogo no período de dezembro de 1996 a dezembro de 2011. Resultados: Cento e vinte pacientes receberam quimioterapia mieloablativa e resgate com infusões de CTHSP, sendo 78,3% adultos, com mediana de idade de 47 anos e predomínio do sexo masculino. Os diagnósticos foram 32,5% para Mieloma Múltiplo (MM), 35,8% para Linfoma de Hodgkin (LH), 16,7% para Linfoma não Hodgkin (LNH) 4,2% para Leucemia Mieloide Aguda (LMA) e 10,8% para outras neoplasias como Tumor de Wilms, Câncer de Mama Neuroblastoma, Sarcoma de Ewing, Tumor de Testículo, Meduloblastoma, Macroglobulinemia, Amiloidose e Tumor de SNC. A mediana do número de células nucleadas totais infundidas foi de 6,46x108/kg e a de células CD34+ foi de 3,17x106/kg. A mediana de tempo para recuperação de neutrófilos foi de 10 dias e para plaquetas, de 12 dias. Foi encontrada uma correlação entre a quantidade de células CD34+ infundidas e a recuperação de neutrófilos e plaquetas. Para o grupo em geral, a MRT encontrada foi de 5%, e a probabilidade de SG em cinco anos de 55,1%. Conclusão: Os resultados obtidos com os transplantes autólogos em nossa instituição são semelhantes aos descritos na literatura internacional (AU)
Introduction: The aim of this study was to identify the clinical characteristics of patients transplanted in the institution and evaluate the results obtained with the autologous infusion of hematopoietic stem cells from peripheral blood (PBSC), transplant-related mortality (TRM) and overall survival (OS). Methods: A review and retrospective assessment of the charts of 120 patients who underwent autologous transplantation from December 1996 to December 2011. Results: One hundred and twenty patients received myeloablative chemotherapy and rescue with infusions PBSC, of whom 78.3% were adults, with a median age of 47 years and male predominance. The diagnoses were 32.5 % for Multiple Myeloma (MM), 35.8% for Hodgkin lymphoma (HL), 16.7 % for non-Hodgkin lymphoma (NHL), 4.2 % for Acute Myeloid Leukemia (AML ), and 10.8% for other cancers such as Wilms Tumor, breast cancer, neuroblastoma, Ewing's sarcoma, Testicular Tumor, medulloblastoma , macroglobulinemia , amyloidosis and CNS tumor. The median number of total nucleated cells infused was 6.46 x108/kg and of CD34+ cells was 3.17 x106/kg. The median time for neutrophil recovery was 10 days and for platelets 12 days. A correlation was found between number of CD34+ cells infused and recovery of neutrophils and platelets. For the overall group, the MRT was found to be 5% and the probability of OS at five years was 55.1 %. Conclusion: The results obtained with autologous transplantation at our institution are similar to those described in the international literature (AU)
Assuntos
Humanos , Masculino , Feminino , Transplante Autólogo/estatística & dados numéricos , Transplante de Células-Tronco de Sangue Periférico/estatística & dados numéricos , Brasil/epidemiologia , Taxa de Sobrevida , Neoplasias/mortalidade , Neoplasias/terapiaRESUMO
OBJECTIVE: To evaluate the impact of Cell Saver autologous blood transfusion system (CS) on the use of packed red blood cells (pRBC) in coronary artery bypass grafting (CABG) surgery. METHODS: We carried out a retrospective cross-sectional study in 87 patients undergoing primary elective CABG with miniaturized cardiopulmonary bypass (miniCPB), divided in two groups: 44 without-CS and 43 with-CS. We investigated the necessity of absolute use and the volume of packed red blood cells (pRBC) in each group, as well as cardiovascular risk factors, presurgical variables and intraoperative surgical parameters. All data were collected from medical records and there was no randomization or intervention on group selection. Statistical analysis was performed with Student t-test, Mann-Whitney U-test and χ² test, with a 5% significance level. RESULTS: There were no significant differences between the two groups in terms of cardiovascular risk factors and pre and intraoperative variables. Evaluating the absolute use of pRBC during surgery, there was a statistically significant difference (P=0.00008) between the groups without-CS (21/44 cases; 47.7%) and with-CS (4/43 cases; 9.3%). There was also a statistically significant difference (P=0.000117) in the volumes of pRBC between the groups without-CS (198.651258.65 ml) and with-CS (35.061125.67 ml). On the other hand, in the early postoperative period (up to 24h) there was no difference regarding either the absolute use or the volumes of pRBC between both studied groups. CONCLUSION: Autologous erythrocyte transfusion with CS use reduces the use of intraoperative homologous pRBC in coronary artery bypass grafting surgeries associated with miniCPB.
Assuntos
Transfusão de Sangue Autóloga , Ponte de Artéria Coronária/métodos , Transfusão de Eritrócitos/estatística & dados numéricos , Recuperação de Sangue Operatório , Idoso , Estudos Transversais , Feminino , Humanos , Cuidados Intraoperatórios , Masculino , Pessoa de Meia-Idade , Valores de Referência , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Estatísticas não Paramétricas , Resultado do TratamentoRESUMO
OBJECTIVE: To evaluate the impact of Cell Saver autologous blood transfusion system (CS) on the use of packed red blood cells (pRBC) in coronary artery bypass grafting (CABG) surgery. METHODS: We carried out a retrospective cross-sectional study in 87 patients undergoing primary elective CABG with miniaturized cardiopulmonary bypass (miniCPB), divided in two groups: 44 without-CS and 43 with-CS. We investigated the necessity of absolute use and the volume of packed red blood cells (pRBC) in each group, as well as cardiovascular risk factors, presurgical variables and intraoperative surgical parameters. All data were collected from medical records and there was no randomization or intervention on group selection. Statistical analysis was performed with Student t-test, Mann-Whitney U-test and χ² test, with a 5% significance level. RESULTS: There were no significant differences between the two groups in terms of cardiovascular risk factors and pre and intraoperative variables. Evaluating the absolute use of pRBC during surgery, there was a statistically significant difference (P=0.00008) between the groups without-CS (21/44 cases; 47.7%) and with-CS (4/43 cases; 9.3%). There was also a statistically significant difference (P=0.000117) in the volumes of pRBC between the groups without-CS (198.651258.65ml) and with-CS (35.061125.67ml). On the other hand, in the early postoperative period (up to 24h) there was no difference regarding either the absolute use or the volumes of pRBC between both studied groups. CONCLUSION: Autologous erythrocyte transfusion with CS use reduces the use of intraoperative homologous pRBC in coronary artery bypass grafting surgeries associated with miniCPB.
OBJETIVO: Avaliar o impacto do sistema de autotransfusão com hemoconcentração (SAH) no uso de concentrado de hemácias (CH) em cirurgias de revascularização do miocárdio (CRM). MÉTODOS: Foi desenvolvido um estudo transversal, que incluiu 87 pacientes submetidos a CRM eletiva primária com miniCEC, sendo 44 sem uso do SAH e 43 pacientes com uso do SAH. Foi investigada a necessidade de uso e o volume de CH em cada grupo, bem como fatores de risco cardiovascular, variáveis pré-operatórias e parâmetros cirúrgicos transoperatórios por meio de coleta de dados em prontuários. Não houve randomização ou intervenção na seleção dos grupos. Na análise estatística foram utilizados os testes t de Student, teste U de Mann-Whitney, teste do qui-quadrado, com um nível de significância de 5%. RESULTADOS: Em relação a fatores de risco cardiovascular e variáveis pré e transoperatórias, não houve diferença estatística significativa entre os dois grupos. Quando se avaliou o uso absoluto de CH no transoperatório, houve diferença estatística significativa (P=0,00008) entre os grupos sem-SAH (21/44 casos; 47,7%) e com-SAH (4/43 casos; 9,3%). Na análise dos volumes de CH utilizado no transoperatório, também houve diferença significativa (P=0,000117) entre os volumes utilizados no grupo sem-SAH (198,651258,65 ml) e com-SAH (35,061125,67 ml). Já no pós-operatório imediato (até 24 horas), não houve diferença tanto no uso absoluto como nos volumes de CH entre os grupos que usaram ou não o SAH. CONCLUSÃO: A autotransfusão de hemácias possibilitada pelo uso do SAH determina menor uso de CH homólogo no transoperatório de CRM com uso de miniCEC.
Assuntos
Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transfusão de Sangue Autóloga , Ponte de Artéria Coronária/métodos , Transfusão de Eritrócitos , Recuperação de Sangue Operatório , Estudos Transversais , Cuidados Intraoperatórios , Valores de Referência , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Estatísticas não Paramétricas , Resultado do TratamentoRESUMO
PURPOSE: The risk of developing childhood leukemia has been associated with gene polymorphisms that decrease the activity of detoxifying metabolic enzymes and enzymes involved in systemic oxidative stress. We investigated the NQO1 and PON1 polymorphisms for associations with susceptibility to childhood leukemia. METHODS: Samples from 1,027 Brazilian children (519 acute lymphoblastic leukemia, ALL; 107 acute myeloid leukemia, AML; 401 controls) were analyzed. TaqMAN real-time assays were used to determine the NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) frequencies. Logistic regression was used to evaluate the association of polymorphisms with cases and controls, with age and somatic fusion genes (MLL-r and ETV6-RUNX1) as covariables. RESULTS: Children with at least one NQO1 variant allele were at lower risk for developing infant AML (odds ratio (OR) 0.26, 95 % confidence interval (CI) 0.10-0.68); no association was detected for ALL. PON1 rs854560 (L55M) was associated with an increased risk of developing childhood leukemia (LM + MM, OR 1.93, 95 % CI 1.32-2.81). The PON1 rs662 R192R genotype had a statistically significant decreased frequency in ALL (OR 0.64, 95 % CI 0.43-0.93). Infant ALL cases were more likely to harbor homozygous PON1 rs854560 alleles than controls (OR 1.72, 95 % CI 1.03-2.89); at least one M allele was associated with an increased risk of ALL in children older than 1 year (OR 1.99, 95 % CI 1.17-3.3). CONCLUSIONS: The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations.
Assuntos
Arildialquilfosfatase/genética , NAD(P)H Desidrogenase (Quinona)/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/enzimologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Distribuição por Idade , Alelos , Arildialquilfosfatase/metabolismo , Brasil/epidemiologia , Criança , Pré-Escolar , Genótipo , Humanos , NAD(P)H Desidrogenase (Quinona)/metabolismo , Polimorfismo Genético , Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiologia , Fatores de RiscoRESUMO
Extramedullary involvement occurs infrequently in acute promyelocytic leukemia and is said to be more common after treatment with all-trans retinoic acid. We describe a 9-year-old girl who had an isolated external auditory canal and middle ear relapse after treatment with all-trans retinoic acid and chemotherapy. A patient with cytogenetically and molecularly confirmed acute promyelocytic leukemia developed isolated extramedullary relapse in the auditory canal and middle ear 4 years and 9 months after initial diagnosis, while in hematologic and molecular remission, successfully treated with arsenic trioxide alone.
Assuntos
Arsenicais/uso terapêutico , Meato Acústico Externo/patologia , Neoplasias da Orelha/diagnóstico , Orelha Média/patologia , Leucemia Promielocítica Aguda/diagnóstico , Recidiva Local de Neoplasia/diagnóstico , Óxidos/uso terapêutico , Trióxido de Arsênio , Criança , Meato Acústico Externo/efeitos dos fármacos , Neoplasias da Orelha/tratamento farmacológico , Orelha Média/efeitos dos fármacos , Feminino , Humanos , Leucemia Promielocítica Aguda/tratamento farmacológico , Resultado do TratamentoRESUMO
OBJECTIVE: The 22q11.2 deletion syndrome nowadays is considered one of the most often observed genetic diseases in humans. It is clinically characterized by a rather wide phenotypic spectrum, with more than 180 clinical features physical as well as behavioral, already described. However, none is pathognomonic or obligatory which makes diagnosis even more difficult. Thus, this study intended to determine the prevalence and clinical characteristics of patients with 22q11.2 microdeletion in a selected sample of subjects with clinical suspicion of 22q11.2 deletion syndrome and normal karyotype. METHODS: A selected sample of 30 patients with clinical suspicion of 22q11.2 deletion syndrome and normal karyotype was evaluated by application of a standard clinical protocol and cytogenetic analysis with fluorescent in situ hybridization. RESULTS: 22q11.2 microdeletion was identified in 3 patients (10%), a prevalence similar to the majority of published studies, which ranged from 4 to 21%. The 22q11.2 deletion syndrome patients in this study were characterized by a variable phenotype and shared few clinical features, in agreement with the literature description. CONCLUSIONS: These findings strengthen the idea that clinical diagnosis of 22q11.2 deletion syndrome is difficult due to the large phenotypic variability. Therefore a detailed clinical evaluation associated to a sensitive test such as fluorescent in situ hybridization analysis is crucial for the identification of these patients.
Assuntos
Síndrome de DiGeorge/diagnóstico , Hibridização in Situ Fluorescente/métodos , Adolescente , Brasil/epidemiologia , Criança , Pré-Escolar , Síndrome de DiGeorge/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , PrevalênciaRESUMO
Acute lymphoblastic leukemia (ALL) in infants is characterized by a high frequency of MLL gene rearrangements. By contrast, the t(12;21) ETV6-RUNX1 fusion gene is typically detected in children older than 2 years. In a series of Brazilian infant leukemia cases, however, four younger cases harbored ETV6-RUNX1, at ages 2, 3, 5, and 7 months. This finding could represent a unique model for delineating the additional genomic hits required to accelerate the emergence of a frank leukemia in these t(12;21)-positive cases. We applied a whole-genome copy number analysis with single-nucleotide polymorphism (SNP) arrays, comparing t(12;21) infants with older pediatric age groups. Recurrent deletions, including 9p21.3 (CDKN2A, CKDN2B, and MTAP), 11p13 (CD44), 12p13.2 (ETV6), and patient-specific abnormalities were identified. Although infant cases with t(12;21) did not display specific genetic abnormalities explaining the short latency to overt leukemia, the frequency of copy number abnormalities increased proportionally with age. This novel SNP array analysis in an extremely rare series of cases opens new ideas about the etiology of ETV6-RUNX1-positive ALL.
Assuntos
Subunidade alfa 2 de Fator de Ligação ao Core/genética , Fusão Gênica , Estudo de Associação Genômica Ampla , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Criança , Pré-Escolar , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Polimorfismo de Nucleotídeo ÚnicoRESUMO
OBJETIVO: A síndrome de deleção 22q11.2 é considerada hoje uma das doenças genéticas mais frequentes em humanos. Caracteriza-se clinicamente por um espectro fenotípico bastante amplo, com mais de 180 achados já descritos, tanto físicos como comportamentais. Contudo, nenhum deles é patognomônico ou mesmo obrigatório, o que acaba dificultando o diagnóstico. Assim, o objetivo do presente estudo foi determinar a prevalência e as características clínicas de pacientes com microdeleção 22q11.2 em uma amostra selecionada de indivíduos com suspeita clínica de síndrome de deleção 22q11.2 e cariótipo normal. MÉTODOS: Uma amostra selecionada de 30 pacientes com suspeita clínica da síndrome de deleção 22q11.2 e cariótipo normal foi avaliada através da aplicação de um protocolo clínico padrão e análise citogenética por meio da técnica de hibridização in situ fluorescente. RESULTADOS: A microdeleção 22q11.2 foi identificada em três pacientes (10 por cento), sendo esta prevalência similar a da maioria dos estudos descritos na literatura que oscila de 4 por cento a 21 por cento. Os pacientes com síndrome de deleção 22q11.2 do nosso trabalho se caracterizaram por um fenótipo variável, com poucos achados clínicos similares, o que foi concordante com a descrição da literatura. CONCLUSÃO: Nossos achados reforçam a ideia de que o diagnóstico clínico da síndrome de deleção 22q11.2 é difícil devido à sua grande variabilidade fenotípica. Assim, uma avaliação clínica detalhada associada a um teste sensível como a hibridização in situ fluorescente, são fundamentais para a identificação destes pacientes.
OBJECTIVE: The 22q11.2 deletion syndrome nowadays is considered one of the most often observed genetic diseases in humans. It is clinically characterized by a rather wide phenotypic spectrum, with more than 180 clinical features physical as well as behavioral, already described. However, none is pathognomonic or obligatory which makes diagnosis even more difficult. Thus, this study intended to determine the prevalence and clinical characteristics of patients with 22q11.2 microdeletion in a selected sample of subjects with clinical suspicion of 22q11.2 deletion syndrome and normal karyotype. METHODS: A selected sample of 30 patients with clinical suspicion of 22q11.2 deletion syndrome and normal karyotype was evaluated by application of a standard clinical protocol and cytogenetic analysis with fluorescent in situ hybridization. RESULTS: 22q11.2 microdeletion was identified in 3 patients (10 percent), a prevalence similar to the majority of published studies, which ranged from 4 to 21 percent. The 22q11.2 deletion syndrome patients in this study were characterized by a variable phenotype and shared few clinical features, in agreement with the literature description. CONCLUSIONS: These findings strengthen the idea that clinical diagnosis of 22q11.2 deletion syndrome is difficult due to the large phenotypic variability. Therefore a detailed clinical evaluation associated to a sensitive test such as fluorescent in situ hybridization analysis is crucial for the identification of these patients.
Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Síndrome de DiGeorge/diagnóstico , Hibridização in Situ Fluorescente/métodos , Brasil/epidemiologia , Síndrome de DiGeorge/epidemiologia , Fenótipo , PrevalênciaRESUMO
Rio Grande do Sul (RS), in South Brazil, with about 10 million inhabitants, is known for its agricultural activities and consequent increased human exposure to toxic agents. Patients with de novo acute myeloid leukemia (AML) were included based on information retrieved from all referral hospitals in RS between 1996 and 2000. A total of 532 patients were registered. Median age at diagnosis was 42 years. The estimated annual incidence was 1.11 cases/100,000 inhabitants/year. There was an estimated incidence of 0.5-1 case per 100,000 inhabitants up to the age of 45 years, and of 3.5 cases per 100,000 inhabitants aged 70 years and older, with no geographical clusters. The mean 5-year survival rate was 17% for all cases. There was an increased number of M3 cases, as already described for individuals of Latin-American and the mortality rate was similar to that described in the literature.
Assuntos
Leucemia Mieloide Aguda/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Leucemia Mieloide Aguda/mortalidade , Masculino , Pessoa de Meia-Idade , Fatores de TempoRESUMO
BACKGROUND: Chromosome abnormalities often occur prenatally in childhood leukemia, characterizing an early event in leukemogenesis. The majority of the abnormalities occurring in infants involve the MLL gene on chromosome band 11q23. We describe the molecular cytogenetic findings of 207 infant acute leukemia (IAL) cases included in the Brazilian Collaborative Study Group of Infant acute leukemia. PROCEDURE: The diagnosis of Acute Lymphoblastic leukemia (ALL) or acute myeloblastic leukemia (AML) was made according to morphology and immunophenotyping classification, followed by conventional karyotyping. Samples were then screened using RT-PCR for the presence of specific chromosome translocations. FISH assay for MLL rearrangements was performed only in cases with negative or inconclusive cytogenetic or PCR results. RESULTS: The characteristics of children with IAL were as follows: 115 boys and 92 girls, age range 0-23 months, mean age 12 months, 145 ALL, and 62 AML. A statistically significant association was observed between pro-B ALL cases and MLL+ve (P=0.0001) cases and the age group 0-3 months with MLL+ve (P=0.008) cases. Two rare cases of pro-T ALL with MLL+ve were found. Other than MLL rearrangements, various other molecular aberrations were detected including TEL/AML1+ve (n=9), E2A/PBX1+ve (n=4), PML/RARA+ve (n=4), and AML1/ETO+ve (n=2). Cytogenetic analysis revealed hyperdiploidy (n=6), del(7) in two cases and del(11)(q23) in seven cases. CONCLUSIONS: Our results show that not only MLL rearrangements, but also other molecular abnormalities occur before birth and may contribute to leukemogenesis.
Assuntos
Análise Citogenética/métodos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Brasil , Feminino , Humanos , Imunofenotipagem , Lactente , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Sensibilidade e EspecificidadeAssuntos
Leucemia Mieloide Aguda/epidemiologia , Leucemia Promielocítica Aguda/epidemiologia , Brasil/epidemiologia , Aberrações Cromossômicas , Exposição Ambiental , Humanos , Lactente , Leucemia Mieloide Aguda/classificação , Leucemia Mieloide Aguda/genética , Leucemia Promielocítica Aguda/etnologia , Leucemia Promielocítica Aguda/genética , Translocação GenéticaRESUMO
The presence of the t(12;21)(p13;q22) distinguishes a subset of children with acute lymphoblastic leukemia (ALL) that present a favorable prognosis. This is a cryptic translocation difficult to detect through conventional cytogenetics. In this study, bone marrow samples from 30 children with ALL from southern Brazil were evaluated by fluorescence in situ hybridization (FISH) for the t(12;21), using locus specific probes to detect the TEL/AML1 rearrangement. The selection criteria included: age (0-12 years old); FAB classification (L1 or L2), absence of specific clonal chromosomal aberrations; and adequate cellular integrity to perform FISH analysis. A frequency of 40% of the t(12;21) was observed, in addition to extra copies of the AML1 gene in 7.5% of patients. These findings were analyzed in relation to the patient's clinical parameters and compared with other pediatric populations.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Cromossomos Humanos Par 12/genética , Cromossomos Humanos Par 21/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Medula Óssea/patologia , Brasil , Criança , Pré-Escolar , Análise Citogenética , Feminino , Humanos , Hibridização in Situ Fluorescente/métodos , Lactente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Prognóstico , Sensibilidade e Especificidade , Resultado do TratamentoRESUMO
O presente trabalho relata um caso cutis laxa associado a retardo do desenvolvimento. Esta é a primeira descriçäo desta entidade clínica no Brasil