RESUMO
Oxidative stress might contribute to the occurrence of cancers, including the hematological ones. Various genetic polymorphisms were shown to increase the quantity of reactive oxygen species, a phenomenon that is able to induce mutations and thus promote cancers. The purpose of the study was to evaluate the association between CAT C262T, GPX1 Pro198Leu, MnSOD Ala16Val, GSTM1, GSTT1, and GSTP1 Ile105Val gene polymorphisms and acute myeloid leukemia risk, in a case-control study comprising 102 patients and 303 controls. No association was observed between AML and variant genotypes of CAT, MnSOD, GSTM1, and GSTT1 polymorphisms. Our data revealed a statistically significant difference regarding the frequencies of GPX1 Pro198Leu and GSTP1 Ile105Val variant genotypes between AML patients and controls (p < 0.001). Our results showed no association in the distribution of any of the CAT C262T, GPX1 Pro198Leu, GSTM1, GSTT1, and GSTP1 polymorphisms regarding age, gender, FAB subtype, cytogenetic risk groups, FLT3 and DNMT3 gene mutations, and overall survival. Our data suggests that the presence of variant allele and genotype of GPX1 Pro198Leu and GSTP1 Ile105Val gene polymorphisms may modulate the risk of developing AML.
Assuntos
Antioxidantes/metabolismo , Regulação Leucêmica da Expressão Gênica , Glutationa Peroxidase/genética , Glutationa S-Transferase pi/genética , Leucemia Mieloide Aguda/genética , Polimorfismo Genético , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Genótipo , Glutationa Transferase/genética , Humanos , Isoleucina/química , Leucina/química , Leucemia Mieloide Aguda/diagnóstico , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Mutação , Prolina/química , Espécies Reativas de Oxigênio , Risco , Romênia , Superóxido Dismutase/genética , Valina/química , Glutationa Peroxidase GPX1RESUMO
UNLABELLED: The Philadelphia chromosome and the resulting BCR-ABL fusion gene represent the hallmark event in chronic myeloid leukemia (CML) and their discoveries radically changed the management of these patients. Currently Wilms tumor 1 gene (WT1) is intensively investigated as high WT1 expression levels have been demonstrated in case of multiple solid tumors and malignant hematological syndromes (acute myeloid and lymphoid leukemia, myelodysplastic syndromes and chronic myeloid leukemia). The aim of our study was to investigate the WT1 expression in CML patients and its possible contribution to disease evolution. PATIENTS AND METHODS: In the Laboratory of Molecular Biology, University of Medicine and Pharmacy of Tirgu Mures, Romania, we regularly determined the M-BCR-ABL and WT1 expression levels by RQ-PCR (real-time quantitative polymerase chain reaction) testing in case of 19 CML patients: six patients monitorized from the diagnosis and 13 patients first tested during therapy. RESULTS: Eight CML (four advanced stage and four CP) patients showed high WT1 expression level, and in case of 11 patients the WT1 expression levels were undetectable or lower than 0.02%. The only significant difference between the high and low WT1 expression groups was represented by the clinical stage. In the majority of pretreated patients (10 out of 13 patients), the WT1 expression levels were low or undetectable. CONCLUSIONS: High WT1 expression in CML patients is detected especially in the advanced stages of the disease. Efficient Imatinib therapy may contribute to low WT1 levels in CP patients.
Assuntos
Proteínas de Fusão bcr-abl/metabolismo , Regulação Leucêmica da Expressão Gênica , Leucemia Mielogênica Crônica BCR-ABL Positiva/metabolismo , Reação em Cadeia da Polimerase em Tempo Real/métodos , Proteínas WT1/metabolismo , Adulto , Idoso , Progressão da Doença , Feminino , Perfilação da Expressão Gênica , Humanos , Mesilato de Imatinib/uso terapêutico , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
UNLABELLED: Chronic myelogenous leukemia (CML) is characterized by the Philadelphia chromosome and the BCR-ABL fusion gene that encodes an abnormal tyrosine kinase. Development of specific tyrosine kinase inhibitors completely changed the management of these patients. MATERIALS AND METHODS: Between April 2008 and July 2012, at the Molecular Biology Laboratory, University of Medicine and Pharmacy of Targu Mures, Romania, we monitored the M-BCR-ABL transcript level by real time quantitative PCR in case of 15 CML patients diagnosed at the Hematology and Transplant Center of Targu Mures. RESULTS: Modification of M-BCR-ABL expression level shows statistically significant correlation (p=0.013) with the clinical course of these patients. CONCLUSIONS: Molecular biology techniques have an important role in monitoring CML patients and regular analysis is recommended.
Assuntos
Proteínas de Fusão bcr-abl/biossíntese , Leucemia Mielogênica Crônica BCR-ABL Positiva/metabolismo , Feminino , Proteínas de Fusão bcr-abl/genética , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/sangue , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
We present the possibilities of diagnosis correlating the pathological, immunophenotyping and clinical aspects of a rare case of T-cell lymphoma in a 23-year-old patient with leukemic transformation. In our consideration, it is very important to describe this case because in the literature there are very few cases presented and the treatment of this type of lymphoma does not present optimal results, the evolution of the patients being from three months to two years. The treatment modality that gives the possibility to prolong survival and cure is hematopoietic stem cell transplantation.
