RESUMO
OBJECTIVE: Investigate the gonadal hormonal function in sickle cell individuals. CONTEXT: Sickle cell disease (SCD) is associated with delayed physical and sexual development, and it has been related to both primary testicular failure and hypothalamo-pituitary-gonadal axis abnormalities. DESIGN: The study of the pituitary gonadotrophin reserve was done evaluating the hormonal levels before and after stimulation by gonadoliberin. PATIENTS: Male patients with homozygous SCD (18-39 years, median = 29.5 years). MEASUREMENTS: Gonadal function was evaluated through clinical parameters and the hormonal quantification. RESULTS: Although low body weight and other clinical signs of undernutrition such as clinical hypoandrogenism and the extreme retardation of puberty were seen in these patients, final stature and hormonal testicular reserve to hCG stimulation were proved to be normal according to our previous data. In the present investigation, the basal luteotropic gonadotropin (LH), follicle-stimulating hormone (FSH) and testosterone (T) levels were similar between the patients and controls. Prostate-specific antigen (PSA) levels-used as a biochemical marker of androgenicity, mainly in puberty-were lower in the patients than in the controls and were only correlated with T. A subtle abnormality in the pituitary responsivity to gonadotropin-releasing hormone (GnRH) was disclosed, with a higher response to LH 60 minutes after stimulation in patients than in controls. CONCLUSIONS: These data, in addition to both the clinical and biochemical signs of hypoandrogenism associated with normal to elevated T levels strongly suggest a peripheral origin of hypogonadism, which is probably due to androgen resistance in the patients with SCD.
Assuntos
Anemia Falciforme/sangue , Anemia Falciforme/tratamento farmacológico , Hormônio Liberador de Gonadotropina/uso terapêutico , Gonadotropinas Hipofisárias/sangue , Hipogonadismo/sangue , Hipogonadismo/tratamento farmacológico , Adolescente , Adulto , Humanos , Masculino , Testículo/metabolismo , Testículo/patologia , Adulto JovemRESUMO
Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility have been demonstrated in sickle cell disease (SCD). This study aimed to evaluate the clinical and laboratory views of the Leydig cells function after stimulation with hCG in adults with sickle cell disease. We studied 15 patients with SCD (18 to 40 years; median=27 years old), fourteen homozygous S, and one with SC disease. The control group, composed by adult males, was divided into two groups: I - 10 relatives (18-39 years, median=26 years) with the same socioeconomic level of the patients, and II - 9 normal individuals (23-28, median=31 years) randomly chosen. Clinically it was observed a slight degree of malnutrition, important puberty delay, rarefaction of chest, underarm and pubic hair, and important reduction of the testis and penis size, featuring a mild hypogonadism in patients with SCD. The hormonal level assessment of testosterone at baseline and at 24, 48 and 72 h after hCG stimulation showed no significant differences between the groups studied. We can presume that adult men with SCD showed clinical hypoandrogenism with normal testicular hormonal function, a fact inconsistent with the hypothesis of primary hypogonadism.
Assuntos
Anemia Falciforme , Hipogonadismo , Células Intersticiais do Testículo/metabolismo , Puberdade , Testosterona/sangue , Adolescente , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/patologia , Anemia Falciforme/fisiopatologia , Gonadotropina Coriônica/administração & dosagem , Humanos , Hipogonadismo/sangue , Hipogonadismo/patologia , Hipogonadismo/fisiopatologia , Células Intersticiais do Testículo/patologia , Masculino , Substâncias para o Controle da Reprodução/administração & dosagemRESUMO
CONTEXT AND OBJECTIVE: Tumor cells in Hodgkins disease (HD) express cell proliferation markers that are evaluated according to the oncogenes involved or the expression of their proteins. Correlations between the protein expression grade and clinical data are now important for disease prognosis. DESIGN AND SETTING: This was a retrospective analysis on proliferating cell nuclear antigen (PCNA), p53 and MDM2 (murine double minute-2) expression using immunohistochemistry, on formalin-fixed, paraffin-embedded tissues from diagnostic biopsies on 51 patients with HD. The study was conducted at the Division of Hematology and Transfusion Medicine, Hospital São Paulo, Universidade Federal de São Paulo. METHODS: Antigen expression was evaluated as the proportions of positive Hodgkin and Reed-Sternberg (HRS) cells and reactive lymphocytes (L), which were compared using Spearman correlation coefficients. The Friedman test was used for comparisons between the markers. The Pearson test was used to investigate associations between marker expression and clinical and laboratory parameters, marrow involvement, complete remission (CR) and overall survival (OS) rates. RESULTS: There was overexpression of antigen proteins in HRS, in relation to L (p < 0.001). In HRS, MDM2 was higher than p53 and PCNA (p < 0.003), while the latter two were equivalent. In L, p53 was lower than MDM2 and PCNA (p < 0.001), while the latter two were equivalent. There was no relationship between protein expression and clinical and laboratory variables or outcome. CONCLUSIONS: PCNA, p53 and MDM2 are tumor markers for HD, but showed no clinical or prognostic significance in our analysis.
Assuntos
Doença de Hodgkin/metabolismo , Antígeno Nuclear de Célula em Proliferação/análise , Proteínas Proto-Oncogênicas c-mdm2/análise , Proteína Supressora de Tumor p53/análise , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Métodos Epidemiológicos , Feminino , Doença de Hodgkin/patologia , Humanos , Linfócitos/patologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Células de Reed-Sternberg/químicaRESUMO
Karyotyping is important for diagnosis and prognosis of myelodysplastic syndrome (MDS). Using fluorescence in situ hybridization (FISH) either mitotic or interphase cells can be analyzed and a higher number of cells can be screened. This study evaluated the effectiveness of FISH in detecting the most common chromosomal abnormalities [-5/del 5q/-7/+8/del 11q23 and -Y] in 40 patients with MDS. Karyotype detected abnormalities in 35.2% of the patients and FISH in 35%, while some abnormalities remained undetected by each approach but the association of both methods increased the detection rate up to 40%.
Assuntos
Aberrações Cromossômicas , Análise Citogenética/normas , Síndromes Mielodisplásicas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Deleção Cromossômica , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 5/genética , Cromossomos Humanos Par 7/genética , Análise Citogenética/métodos , Feminino , Humanos , Hibridização in Situ Fluorescente/métodos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/mortalidade , PrognósticoRESUMO
Diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin's lymphoma. Although the presence of p53 gene mutations has been considered as a bad prognostic feature in DLBCL, its clinical significance is still controversial. The aims of this study were: detect the presence of mutations in exons 5 to 9 of the p53 gene and correlate it to prognosis in DLBCL. Fifty-one DLBCL patients were enrolled in this study. Expression of p53 was evaluated by immunohistochemistry. The screening of p53 mutations was performed using PCR-SSCP methods. Cases showing a mobility shift on SSCP electrophoresis were analyzed by automatic sequencing. We could identify 8 missense mutations in 6 of 48 cases (12.5%). In addition, we found a known polymorphism at codon 213 and 2 instances of silent mutations. Of all mutations/polymorphisms found, 7 (64%) were localized in codons previously described as p53 hot spots in NHL cases. Of the remaining alterations (4 or 36%), 2 mutations were localized in codons previously described as hot spots for p53 in other tumors and 2 (codon 142 of the exon 5 and codon 195 of the exon 6), in codons not described as hot spots for p53 up to now. The presence of missense mutations in exons 5 to 9 of p53 gene had adverse impact on overall survival (P = 0.020). Cox's Regression Model identified that high-risk International Prognostic Index (IPI) and p53 gene mutations have independent negative impact on OS. Therefore, the association of IPI with cellular factors, such as p53 mutation, can be very helpful in deciding when we should indicate more aggressive therapies in patients with DLBCL, to somehow increase the chance of cure in these patients.
Assuntos
Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/genética , Mutação , Proteína Supressora de Tumor p53/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Éxons , Humanos , Linfoma de Células B/diagnóstico , Linfoma de Células B/genética , Linfoma de Células B/mortalidade , Linfoma Difuso de Grandes Células B/mortalidade , Pessoa de Meia-Idade , Prognóstico , Análise de Sobrevida , Resultado do TratamentoRESUMO
INTRODUCTION: Cytogenetics in AML at diagnosis is a well defined prognostic tool. OBJECTIVE: The authors analized karyotype (KT) and clinical data of newly diagnosed AML patients. METHODS: Thirty patients were studied, 16 male and 14 female. Age ranged from 19 to 84 years. Diagnostic criteria were based on WHO classification, immunophenotyping and G banding cytogenetics. They were treated according to standard protocol (daunorrubicin and cytarabine - 3+7) and those who had Acute Promyelocytic Leukemia additionally received ATRA. RESULTS: KT success rate was 84%. According to KT patients were divided into 4 groups: favourable prognosis (FP) (6) (t(8;21), t(15;17)); intermediary prognosis (IP) (7)(four normal karyotypes, + 8, t(1;2) and del 18(q)); unfavourable prognosis (UP); and 3 secondary AML; two evolving from prior Mylelodysplastic Syndrome and one presenting as an initial blast crisis of chronic myeloid leukemia. The median age of FP was 23 years while UP was 60 years (p<0.003). In the FP, 5/6 (83%) achieved complete remission (CR) while only 1/7 (20%)in the IP and 1/8 (12,5%) in the UP. There was a tendency of higher leukocyte count in the unfavourable group. CONCLUSIONS: The rate of karyotype aberrations in AML was 80% and in accordance to literature data (65-95%). There was a clear difference in CR rates between favourable and unfavourable prognosis group.
Assuntos
Leucemia Mieloide/genética , Doença Aguda , Adulto , Idoso , Idoso de 80 Anos ou mais , Antibióticos Antineoplásicos/uso terapêutico , Antimetabólitos Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Citarabina/uso terapêutico , Daunorrubicina/uso terapêutico , Feminino , Humanos , Cariotipagem , Leucemia Mieloide/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
CONTEXT AND OBJECTIVE: Counting and separating hematopoietic stem cells from different sources has importance for research and clinical assays. Our aims here were to characterize and quantify hematopoietic cell populations in marrow donors and to evaluate CD34 expression and relate this to engraftment. DESIGN AND SETTING: Cross-sectional study on hematopoietic stem cell assays, using flow cytometry on donor bone marrow samples, for allogenic transplantation patients at two hospitals in São Paulo. METHODS: Immunophenotyping of marrow cells was performed in accordance with positive findings of CD34FITC, CD117PE, CD38PE, CD7FITC, CD33PE, CD10FITC, CD19PE, CD14FITC, CD13PE, CD11cPE, CD15FITIC, CD22PE, CD61FITC and CD56PE monoclonal antibodies in CD45PerCP+ cells, searching for differentiation and maturation regions. CD34+ sorting cells were analyzed for CD38 and CD117. Rh-123 retention was done before and after sorting. Antigen expression and CD34+ cells were correlated with engraftment. RESULTS: In region R1, 0.1% to 2.8% of cells were CD34+/CD45+ and 1.1%, CD34+/CD45-. The main coexpressions of CD45+ cells were CD38, CD22, CD19 and CD56 in R2 and CD33, CD11c, CD14, CD15 and CD61 in R3 and R4. After sorting, 2.2x10(6) CD34+ cells were equivalent to 4.9% of total cells. Coexpression of CD34+/CD38+ and CD34+/CD117+ occurred in 94.9% and 82% of events, respectively. There was a positive relationship between CD34+ cells and engraftment. More than 80% of marrow cells expressed high Rh-123. CD34+ cell sorting showed that cells in regions of more differentiated lineages retained Rh-123 more intensively than in primitive lineage regions. CONCLUSION: We advocate that true stem cells are CD34+/CD45-/CD38-/low-Rh-123 accumulations.
Assuntos
Antígenos CD34 , Células da Medula Óssea , Transplante de Células-Tronco Hematopoéticas , Doadores de Tecidos , ADP-Ribosil Ciclase 1/análise , ADP-Ribosil Ciclase 1/imunologia , Antígenos CD34/análise , Antígenos CD34/imunologia , Células da Medula Óssea/citologia , Células da Medula Óssea/imunologia , Células da Medula Óssea/metabolismo , Diferenciação Celular , Estudos Transversais , Citometria de Fluxo , Células-Tronco Hematopoéticas/imunologia , Células-Tronco Hematopoéticas/metabolismo , Humanos , Imunofenotipagem , Antígenos Comuns de Leucócito/análise , Antígenos Comuns de Leucócito/imunologia , Proteínas Proto-Oncogênicas c-kit/análise , Proteínas Proto-Oncogênicas c-kit/imunologia , Rodamina 123/metabolismo , Transplante HomólogoRESUMO
CONTEXT AND OBJECTIVE: Counting and separating hematopoietic stem cells from different sources has importance for research and clinical assays. Our aims here were to characterize and quantify hematopoietic cell populations in marrow donors and to evaluate CD34 expression and relate this to engraftment. DESIGN AND SETTING: Cross-sectional study on hematopoietic stem cell assays, using flow cytometry on donor bone marrow samples, for allogenic transplantation patients at two hospitals in São Paulo. METHODS: Immunophenotyping of marrow cells was performed in accordance with positive findings of CD34FITC, CD117PE, CD38PE, CD7FITC, CD33PE, CD10FITC, CD19PE, CD14FITC, CD13PE, CD11cPE, CD15FITIC, CD22PE, CD61FITC and CD56PE monoclonal antibodies in CD45PerCP+ cells, searching for differentiation and maturation regions. CD34+ sorting cells were analyzed for CD38 and CD117. Rh-123 retention was done before and after sorting. Antigen expression and CD34+ cells were correlated with engraftment. RESULTS: In region R1, 0.1 percent to 2.8 percent of cells were CD34+/CD45+ and 1.1 percent, CD34+/CD45-. The main coexpressions of CD45+ cells were CD38, CD22, CD19 and CD56 in R2 and CD33, CD11c, CD14, CD15 and CD61 in R3 and R4. After sorting, 2.2x10(6) CD34+ cells were equivalent to 4.9 percent of total cells. Coexpression of CD34+/CD38+ and CD34+/CD117+ occurred in 94.9 percent and 82 percent of events, respectively. There was a positive relationship between CD34+ cells and engraftment. More than 80 percent of marrow cells expressed high Rh-123. CD34+ cell sorting showed that cells in regions of more differentiated lineages retained Rh-123 more intensively than in primitive lineage regions. CONCLUSION: We advocate that true stem cells are CD34+/CD45-/CD38-/low-Rh-123 accumulations.
CONTEXTO E OBJETIVO: A contagem e separação de células-tronco hematopoéticas de diferentes fontes tem importância para ensaios clínicos e pesquisa basica. Nosso objetivo foi caracterizar e quantificar as populacões de células hematopoéticas, bem como avaliar a expressão do antígeno CD34 em populações mais primitivas e correlacioná-las com a enxertia nos doadores de medula óssea para transplante alogênico. TIPO DE ESTUDO E LOCAL: Estudo transversal no qual a diferenciação e a seleção de células-tronco hematopoéticas foram realizadas em amostras de medula óssea de doadores de pacientes submetidos a transplante alogênico nos Hospitais São Paulo e Santa Marcelina, São Paulo, Brasil. MÉTODOS: Imunofenotipagem de células mononucleares de medula óssea foi feita na população de células CD45PerCP+ com os seguintes anticorpos: CD34FITC, CD117PE, CD38PE, CD7FITC, CD33PE, CD10FITC, CD19PE, CD14FITC, CD13PE, CD11cPE, CD15FITC, CD22PE, CD61FITC e CD56PE. Após a definição de regiões de células positivas ao CD34, estas células foram selecionadas e analisadas para a co-expressão do CD38 e CD117. Células mononucleares totais de medula óssea e aquelas obtidas após a seleção foram testadas para a retenção de Rh-123. O teste de Friedman e o coeficiente de Sperman foram utilizados para comparar as expressões e correlacionar a contagem de células CD34+ com a enxertia. RESULTADOS: Na região R1, 0,1 por cento a 2,8 por cento das células foram CD34+/CD45+, porém apenas 1,1 por cento das células foram CD34+/CD45-. As principais co-expressões de células CD45+ foram CD38, CD22, CD19 e CD56 na região R2 e CD33, CD11c, CD14, CD15 e CD61 nas regiões R3 e R4. Após a seleção, a mediana de 2,2x106 células CD34+ foi equivalente a 4,9 por cento do total mediano de células da medula óssea. Co-expressões de células CD34+/CD38+ e CD34+/CD117+ ocorreram em 94,95 e 82 por cento, respectivamente. Houve relação positiva entre o número de células CD34+ infundidas e o dia da enxertia. ...
Assuntos
Humanos , Células da Medula Óssea , Transplante de Células-Tronco Hematopoéticas , Doadores de Tecidos , /análise , /imunologia , /análise , /imunologia , /análise , /imunologia , Células da Medula Óssea/citologia , Células da Medula Óssea/imunologia , Células da Medula Óssea/metabolismo , Diferenciação Celular , Estudos Transversais , Citometria de Fluxo , Células-Tronco Hematopoéticas/imunologia , Células-Tronco Hematopoéticas/metabolismo , Imunofenotipagem , Proteínas Proto-Oncogênicas c-kit/análise , Proteínas Proto-Oncogênicas c-kit/imunologia , /metabolismo , Transplante HomólogoRESUMO
Twenty cases of systemic non-Hodgkin's lymphoma (NHL) in HIV-infected patients were reviewed over a 10-year-period, divided into Group A, including 13 NHL cases treated before the highly active antiretroviral therapy (HAART) era, and Group B, including 7 patients who received HAART. A Kaplan-Meier survival curve was performed and log-rank was applied to assess statistical differences between the groups. In group A, the median CD4 count was 36 cells/mm3. No complete remission was found. In group B, the median CD4 count was 137 cells/mm3. Four patients (57.0%) are still alive and in complete remission. Group A had a median survival of 5 months and group B 31 months (p = 0.0032). Our results are in agreement with recent reports in that a higher CD4 count and better immune status achieved with HAART is predictive of a better outcome. We found that HAART in combination with chemotherapy improves overall survival of NHL patients without increasing adverse effects.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Terapia Antirretroviral de Alta Atividade , Ciclofosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Infecções por HIV/tratamento farmacológico , Linfoma Relacionado a AIDS/tratamento farmacológico , Linfoma não Hodgkin/tratamento farmacológico , Prednisolona/uso terapêutico , Vincristina/uso terapêutico , Adulto , Contagem de Linfócito CD4 , Feminino , Seguimentos , Infecções por HIV/patologia , Infecções por HIV/virologia , HIV-1/fisiologia , Humanos , Linfoma Relacionado a AIDS/patologia , Linfoma Relacionado a AIDS/virologia , Linfoma não Hodgkin/patologia , Linfoma não Hodgkin/virologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
CONTEXT AND OBJECTIVE: Tumor cells in Hodgkins disease (HD) express cell proliferation markers that are evaluated according to the oncogenes involved or the expression of their proteins. Correlations between the protein expression grade and clinical data are now important for disease prognosis. DESIGN AND SETTING: This was a retrospective analysis on proliferating cell nuclear antigen (PCNA), p53 and MDM2 (murine double minute-2) expression using immunohistochemistry, on formalin-fixed, paraffin-embedded tissues from diagnostic biopsies on 51 patients with HD. The study was conducted at the Division of Hematology and Transfusion Medicine, Hospital São Paulo, Universidade Federal de São Paulo. METHODS: Antigen expression was evaluated as the proportions of positive Hodgkin and Reed-Sternberg (HRS) cells and reactive lymphocytes (L), which were compared using Spearman correlation coefficients. The Friedman test was used for comparisons between the markers. The Pearson test was used to investigate associations between marker expression and clinical and laboratory parameters, marrow involvement, complete remission (CR) and overall survival (OS) rates. RESULTS: There was overexpression of antigen proteins in HRS, in relation to L (p < 0.001). In HRS, MDM2 was higher than p53 and PCNA (p < 0.003), while the latter two were equivalent. In L, p53 was lower than MDM2 and PCNA (p < 0.001), while the latter two were equivalent. There was no relationship between protein expression and clinical and laboratory variables or outcome. CONCLUSIONS: PCNA, p53 and MDM2 are tumor markers for HD, but showed no clinical or prognostic significance in our analysis.
CONTEXTO E OBJETIVO: As células tumorais da doença de Hodgkin (HD) são positivas para marcadores de proliferação celular que são analisados por seus genes e respectivas proteínas. A correlação entre a expressão destas proteínas e os parâmetros clínico-laboratoriais são, no momento, de importância para o prognóstico da doença. TIPO DE ESTUDO E LOCAL: Estudo retrospectivo da expressão do antígeno de proliferação celular (PCNA) e da p53 e MDM2 em tecidos obtidos ao diagnóstico, fixados por formol, embebidos em parafina de 51 pacientes com HD. O trabalho foi realizado na Divisão de Hematologia e Transfusão, Hospital São Paulo, Universidade Federal de São Paulo. MÉTODOS: As expressões antigênicas foram analisadas através da proporção de células de Hodgkin e células de Reed Sternberg (HRS) e linfócitos reacionais (L) positivos. A intensidade de expressão de cada proteína foi comparada entre L e HRS através do coeficiente de Spearman. A comparação da PCNA, p53 e MDM2 em L e HRS se fez pelo teste de Fiedman. As correlações entre variáveis clínico-laboratoriais, comprometimento da medula óssea, taxas de sobrevida geral e remissão clínica com as proteínas em HRS se fizeram pelo coeficiente de Pearson. RESULTADOS: Houve superexpressão das três proteínas em células HRS comparadas aos L (p < 0,001). Nas células HRS, a MDM2 foi maior que a p53 e a PCNA (p < 0,003), que foram equivalentes. Nos L, a p53 foi menor que a MDM2 e a PCNA (p < 0,001), que foram equivalentes Não houve relação entre as expressões das proteínas com as variáveis clínico-laboratoriais e sobrevida. CONCLUSÕES: PCNA, p53 e MDM2 são marcadores tumorais na HD, porém não mostraram significado clínico-prognóstico em nossa análise.
Assuntos
Humanos , Masculino , Feminino , Adulto , Doença de Hodgkin/terapia , Linfócitos/patologia , Antígeno Nuclear de Célula em Proliferação/análise , /análise , Células de Reed-Sternberg/patologia , /análise , /análise , /análise , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biópsia , Métodos Epidemiológicos , Fixadores/farmacologia , Formaldeído/farmacologia , Doença de Hodgkin/imunologia , Doença de Hodgkin/mortalidade , Imunoquímica/métodos , Linfonodos/patologia , Linfócitos/química , Linfócitos/imunologia , Inclusão em Parafina , Prognóstico , Células de Reed-Sternberg/química , Células de Reed-Sternberg/imunologia , Indução de Remissão , Biomarcadores Tumorais/análiseRESUMO
In the present study, a combined method (CM) for attaining simultaneous identification of leukemic cell morphology, karyotype and immunophenotype has been evaluated in 21 patients with acute leukemia and 1 with CML in blast crisis were studied for morphology citochemistry, immunophenotype and karyotype. Karyotype was performed in a bone marrow sample by using conventional techniques. In each case, direct method (DM) and/or three cultures were tried. The CM consisted in separating a small part of the material resulting from any of the cultures or DM, preparing slides through cytospin and immunophenotyping through APAAP method using the same monoclonal antibodies (MoAb) as for diagnosis. In 14 cases, the metaphases proved positive to the MoAb: in 4, the cells with abnormality had their origin defined; in other 4 the karyotype was normal preventing any identification; 6 cases had minimal abnormalities not visible through CM; and in two cases abnormal karyotypes were detected only in the cultures with GM-CSF. This study showed that CM is feasible in cases where evident numerical or structural chromosomal abnormalties are present.
Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Leucemia/genética , Imunofenotipagem/métodos , Cariotipagem/métodos , Leucemia/imunologia , Leucemia/patologiaRESUMO
We studied five patients with hairy cell leukemia (HCL) diagnosed within the last ten years at the Department of Hematology of Universidade Federal de Sao Paulo - Escola Paulista de Medicina. Our purpose was to analyze the value of transmission electron microscopy (TEM) by comparing this method with the conventional ones. At diagnosis, patients presented weight loss, spleen enlargement and hairy cells (HC) in peripheral blood and bone marrow slides. HC was characterized by morphology and tartrate test resistance in the acid phosphatase reaction (TRAP). At the evaluation time, the amount of HC ranged from 1 per cent to 85 per cent of WBC count. All patients, except two, had phenotype B. In these last two, TRAP as well as phenotype B could not be documented due to low HC numbers in their exams. Cytoplasmatic projections and the absecence of lamellar ribosomic complex were the most frequent ultrastructural findings, even in those patients with the lowest HC numbers. Based on these features, TEM is an efficient method for searching for HC at HCL diagnosis and during the course of the disease.
Assuntos
Adulto , Pessoa de Meia-Idade , Humanos , Feminino , Medula Óssea/química , Microscopia Eletrônica , Leucemia de Células Pilosas/patologia , Células Ciliadas Auditivas/ultraestrutura , Histocitoquímica , Fatores de Tempo , Contagem de Células Sanguíneas , Idoso de 80 Anos ou maisRESUMO
Bone marrow biopsy allows evaluation of cellularity, abnormal localization of immature precursors and fibrosis in myelodysplastic syndrome. It has been considered important to make diagnosis and prognosis of this disorder. The object of this study evaluated the influence of histopathological parameters, such as cellularity, erythroid/myeloid ratio, abnormal localization of immature precursors and marrow fibrosis, on survival of myelodysplastic syndrome patients. Forty-six patients, admitted from April 1985 to June 1998, and diagnosed as being myelodysplastic syndrome according to French-American-British criteria, were selected. There were 20 males and 26 females, with median age of 61 years. Forty-six bone marrow smears and 36 trephine biopsies were reviewed. Mean survival of hypocellular cases was 64.8 months and of hyper and normocellular cases was 31.8 months. Patients with predominance of erythroid hyperplasia had mean survival of 50.8 months, greater than those with predominance of myeloid hyperplasia (20.3 months). There was no statistical difference in survival of patients with or without abnormal localization of immature precursors and with or without marrow fibrosis. Bone marrow biopsy is a useful tool for the identification of parameters that influence prognosis in myelodysplastic syndrome. Hypocellularity and erythroid hyperplasia were correlated with longer survival while myeloid hyperplasia with poorer survival
A biópsia de medula óssea propicia a avaliação da celularidade global, dos precursores imaturos de localização anormal e de fibrose nas sídromes mielodisplásicas. O método tem sido considerado importante também para o diagnóstico e prognóstico da síndrome. O objetivo deste estudo foi o de o observar a influência de parâmetros histológicos como a celularidade, a relação eritróide mielóide, a presença de precursores imaturos de localização anormal e fibrose medular na sobrevida de pacients com a síndrome. De abril de 1985 a junho de 1998, 46 pacientes diagnosticados segundo os critérios do grupo Franco, Americano, Britânico foram estudados. A casuística era composta de 20 pacientes do sexo masculino e de 26 do sexo feminino com idade média de 61 anos. Foram revisados 46 esfregaços de aspirado de medula óssea e 36 cortes histológicos de bioópsia de medula óssea. A sobrevida média dos casos de hipocelularidade foi de 64,8 meses e dos casos que eram hiper ou normocelulares foi de 31,8 meses. Pacientes com a predominância de hiperplasia tiveram sobrevida média de 50,8 meses, que foi superior aos que apresentavam hiperplasia mielóide (20,3 meses). Não houve diferença estatística na sobrevida dos pacientes que apresentaram ou não fibrose medular. A biópsia de medula óssea deve ser considerada útil na identificação de prâmetros que influenciam no prognóstico da síndrome mielodisplásica. A hipocelularidade e a hiperplasia eritrocitária está realcionada com a sobrevida maior, enquanto a hiperplasia mielóide com a sobrevida mais curta.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Biópsia , Medula Óssea , Técnicas de Laboratório Clínico , Síndromes Mielodisplásicas , Prognóstico , Síndromes Mielodisplásicas/patologiaRESUMO
Objective: To correlate the incidence of hemorrhage and thrombosis to bleeding time (BT) and platelet aggregation in 27 consecutive patients with myeloproliferative diseases (MPD). Design: Retrospective study. Setting: Public tertiary referral center. Patients: Eighteen patients with chronic myelogenous leukemia (CML), 5 with polycytemia vera (PV), 2 with essential thrombocytemia (ET) and 2 with idiopathic myelofibrosis (MF). Duke's BT and epinephrine-induced platelet aggregation were performed on the patients and on 10 healthy individuals. Results: Eleven patients presented symptoms (41 percent): 9 with hemorrhage (33 percent) and 5 with thrombosis (19 percent). There were less symptomatic patients in the CML group (28 percent) than in the other MPD (67 percent), without statistical significance (Fisher, p=0.06). Duke's BT was longer in symptomatic patients (Mann-Whitney, p<0.05). Platelet aggregation was abnormal in 7 patients (26 percent) and 71 percent of them were symptomatic (Fisher, p=0.07) Conclusions: The high incidence of bleeding and thrombosis in patients with MPD was related to prolonged BT, but not to platelet aggregation abnormalities.
Assuntos
Adulto , Pessoa de Meia-Idade , Feminino , Humanos , Adolescente , Trombose/etiologia , Tempo de Sangramento , Epinefrina/farmacologia , Agregação Plaquetária , Hemorragia/etiologia , Transtornos Mieloproliferativos/complicações , Contagem de Plaquetas , Agregação Plaquetária/efeitos dos fármacos , Incidência , Estudos Retrospectivos , SeguimentosRESUMO
Context: Spinal cord compression due to extramedullary hematopoiesis is a well-described but rare syndrome encountered in several clinical hematologic disorders, including beta-thalassemia. Case Report: We report the case of a patient with intermediate beta-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. Discussion: Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms.
Assuntos
Humanos , Feminino , Adulto , Compressão da Medula Espinal/radioterapia , Hematopoese Extramedular/efeitos da radiação , Talassemia beta/complicações , SeguimentosRESUMO
CONTEXT: In Hodgkin's disease, each clinical or pathologic stage can be related to the extent of the area involved and predicts the next anatomical region at risk for tumor dissemination. OBJECTIVE: To determine the best prognostic factors that could predict survival in non-Hodgkin lymphoma cases. DESIGN: A retrospective study. LOCATION: Department of Hematology and Transfusion Medicine, Universidade Federal de São Paulo - Escola Paulista de Medicina. PARTICIPANTS: 142 patients with non-Hodgkin lymphoma diagnosed between February 1988 and March 1993. MAIN MEASUREMENTS: Histological subset, Sex, Age, Race, B symptoms, Performance status, Stage, Extranodal disease, Bulk disease, Mediastinal disease, CNS involvement, BM infiltration, Level of DHL, Immunophenotype. RESULTS: In the first study (113 patients), the following variables had a worse influence on survival: yellow race (P<0.1); ECOG II, III e IV (P<0.1) and extranodal disease (P<0.1) for high grade lymphomas; constitutional symptoms (P<0.1), ECOG II, III e IV (P<0.1) and involvement of CNS (P<0.1) for intermediate grade and the subtype lymphoplasmocytoid (P=0.0186) for low grade lymphomas. In the second survey (93 patients), when treatment was included, the variables related to NHL survival were: CNS involvement (P<0.1) for high grade lymphomas, constitutional symptoms (P<0.1), ECOG II, III, IV (P=0.0185) and also CNS involvement (P<0.1) for the intermediate group. There were no variables related to the survival for low-grade lymphomas. CONCLUSIONS: The intermediate grade lymphomas were more compatible with data found in the literature, probably because of the larger number of patients. In this specific case, the treatment did not have an influence on the survival
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Linfoma não Hodgkin/patologia , Prognóstico , Linfoma não Hodgkin/patologia , Linfoma não Hodgkin/terapia , Análise de Sobrevida , Estudos Retrospectivos , Seguimentos , Invasividade Neoplásica , Estadiamento de NeoplasiasRESUMO
CONTEXT: Identification of Philadelphia chromosome or BCR/ABL gene rearrangement in chronic myeloid leukemia is important at diagnosis as well as after treatment. OBJECTIVE: To compare the results of karyotyping using fluorescent in-situ hybridization (FISH) upon diagnosis and 1 year after bone marrow transplantation in 12 patients. TYPE OF STUDY: Diagnostic test and residual disease detection. SETTING: Hematology and Hemotherapy Department, Federal University of São Paulo/Escola Paulista de Medicina, São Paulo, Brazil. SAMPLE: 12 patients with chronic myeloid leukemia at diagnosis and 1 year after bone marrow transplantation. DIAGNOSTIC TEST: Karyotyping was done in the usual way and the BCR/ABL gene-specific probe was used for FISH. MAIN MEASUREMENTS: Disease at diagnosis and residual. RESULTS: At diagnosis, 10 patients presented t(9;22)(q34.1;q11) as well as positive FISH. Two cases did not have metaphases but FISH was positive. After bone marrow transplantation, 8 patients presented normal karyotype, 1 had persistence of identifiable Philadelphia chromosome and 3 had no metaphases. Two cases showed complete chimera and 2 had donor and host cells simultaneously. FISH was possible in all cases after bone marrow transplantation and confirmed the persistence of identifiable Philadelphia chromosome clone in one patient, and identified another that did not present metaphases for analysis. Cases that showed mixed chimera in karyotype were negative for BCR/ABL by FISH. CONCLUSION: The applicability of FISH is clear, particularly for residual disease detection. Classical and molecular cytogenetics are complementary methods
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Leucemia Mielogênica Crônica BCR-ABL Positiva/terapia , Proteínas de Fusão bcr-abl/genética , Transplante de Medula Óssea , Hibridização in Situ Fluorescente , Cromossomo Filadélfia , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Neoplasia Residual/genética , Neoplasia Residual/patologia , CariotipagemRESUMO
Acute leukemia following treatment with Iodine131 is a rare event. The possible carcinogenic effect of Iodine131 is still not clear and a large series of cases did not show an increased incidence of cancer. A case of AML t(8;21), three years after Iodine131 treatment for hyperthyroidism, is reported. Secondary AML with t(8;21) is described following exposure to drugs that target topoisomerase II and radiotherapy. The controversial potential of Iodine131 as a leukemogenic agent and the fact that t(8;21) is also found in de-novo AML, emphasize the problem in establishing a relationship between these events although this potential can not be ruled out.
Assuntos
Leucemia Mieloide Aguda , HipertireoidismoRESUMO
We present the case of a patient with MDS RARS subtype with loss of part of the long arm of chromosome 11 del 11(q23). This a cytogenetic abnormality that occurs in 7 percent to 20 percent of RARS cases not related to poor prognosis. It seems that this deletion is a marker of iron overload in MDS.