RESUMO
The aim of the present study is to evaluate the frequency of C609T polymorphism in the NQO1 (NAD(P)H) quinon oxydoreductase) gene and its relation to cytogenetic abnormalities in patients with Myelodysplastic Syndrome (MDS). The study group consisted of 80 patients MDS with 13 of them in the pediatric age group. The frequency of the NQO1 gene polymorphism was compared with a healthy control group involving 423 individuals. Cytogenetic abnormalities were detected in 43 patients (54%). In patients with MDS the overall frequency of the C609T polymorphism was not different than controls. Also, although the frequency of the C609T polymorphism was higher in patients with secondary MDS (sMDS) (OR: 1.893, 95% CI: 0.840-4.265, p=0.238) , 5/del(5q) (OR:1.298, 95% CI: 0.331-5.086,p=0.124), +21(OR:1.817, 95% CI:0.429-7698,p=0.124) and t(8;21) (OR:3.028, 95% CI: 0.604-15.172,p=0.137) groups, the difference did not reach statistical significiance. Our results do not support the view that the C609T polymorphism has a role in the pathogenesis of MDS. Also the frequency of the C609T allele did not seem to be associated with cytogenetic abnormalities.
Assuntos
Aberrações Cromossômicas , Frequência do Gene , Predisposição Genética para Doença , Síndromes Mielodisplásicas/genética , NAD(P)H Desidrogenase (Quinona)/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Alelos , Estudos de Casos e Controles , Criança , Feminino , Humanos , Cariotipagem , Masculino , Metáfase/genética , Translocação Genética , Adulto JovemRESUMO
The gene encoding the transcriptional co-activator MN1 is the target of the reciprocal chromosome translocation (12;22)(p13;q12) in some patients with acute myeloid leukemia (AML). In addition, expression array analysis showed that MN1 was overexpressed in AML specified by inv(16), in some AML overexpressing ecotropic viral integration 1 site (EVI1) and in some AML without karyotypic abnormalities. Here we describe that mice receiving transplants of bone marrow (BM) overexpressing MN1 rapidly developed myeloproliferative disease (MPD). This BM also generated myeloid cell lines in culture. By mimicking the situation in human inv(16) AML, forced coexpression of MN1 and Cbfbeta-SMMHC rapidly caused AML in mice. These findings identify MN1 as a highly effective hematopoietic oncogene and suggest that MN1 overexpression is an important cooperative event in human inv(16) AML.
Assuntos
Inversão Cromossômica , Cromossomos Humanos Par 16/genética , Regulação Neoplásica da Expressão Gênica/fisiologia , Leucemia Mieloide/etiologia , Proteínas Oncogênicas/genética , Translocação Genética/genética , Doença Aguda , Animais , Transplante de Medula Óssea , Células Cultivadas , Feminino , Citometria de Fluxo , Humanos , Leucemia Mieloide/metabolismo , Leucemia Mieloide/patologia , Camundongos , Camundongos Transgênicos , Transtornos Mieloproliferativos/etiologia , Transtornos Mieloproliferativos/metabolismo , Transtornos Mieloproliferativos/patologia , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Taxa de Sobrevida , Transativadores , Proteínas Supressoras de TumorRESUMO
BCR/ABL expression, which is the molecular equivalent of the Philadelphia chromosome, is an independent poor risk factor in acute lymphoblastic leukemia (ALL). We used a two-step (nested) reverse transcriptase polimerase chain reaction (RT-PCR) assay to examine BCR/ABL expression in the diagnostic bone marrow specimen of children with ALL, prospectively. Among 75 de novo ALL patients, 4 (%5.3) were found to be BCR/ABL- ositive, whereas 4 of 17 relapsed patients (23.5%) were positive. This preliminary study in Turkish children showed an incidence similar to reports from Europe and the U.S.A. More intensive chemotherapies and allogeneic bone marrow transplantations (BMT) uring the first remission were planned if a donor was available. Out of 8 BCR/ABL-positive patients, complete remission (CR) was achieved in 7 patients and partial remission (PR) was achieved in 1 patient. Three patients underwent allogeneic BMT during the first CR and 1 under went autologous BMT during the first PR. The Kaplan-Meier estimate of vent-free survival (EFS) of BCR/ABL negative de novo ALL patients was 78.36% at 3 years, whereas the EFS of positive patients was 31.25% at 26 ± 6.4 months. Molecular screening for the Philadelphia chromosome should become a part of the routine diagnostic panel in ALL patients in order to predict which patients have a poor prognosis and need tailored therapy.
RESUMO
PURPOSE: Factor V Leiden mutation is a common genetic defect associated with a tendency to venous thrombosis. The aim of this study was to evaluate the prevalence of factor V Leiden in patients with retinal vein occlusion (RVO). METHODS: Blood samples were obtained from fifty RVO patients and were tested for factor V Leiden using DNA analysis. Twenty-three patients had central RVO (CRVO), twenty-five had branch RVO (BRVO) and two had CRVO in one eye and BRVO in the other eye. RESULTS: DNA analysis showed that only 4 patients (8%) were heterozygous carriers of factor V Leiden. None of the patients were found to be homozygous. In the control group 11 (9.2%) were heterozygous carriers of factor V Leiden. The difference between the patients and the controls was not statistically significant. CONCLUSION: There was no clear association between RVO and factor V Leiden in this pool of patients. Factor V Leiden does not seem to play an important role in the development of RVO.
