RESUMO
BACKGROUND/AIM: Acute myeloid leukemia (AML) is a myeloproliferative neoplasm marked by abnormal clonal expansion of hematopoietic progenitor cells, displaying karyotypic aberrations and genetic mutations as prognostic indicators. The World Health Organization (WHO) and the European LeukemiaNet guidelines categorize BCR::ABL1 p190+ AML as high risk. This study explored the identification of the increased incidence of BCR::ABL1 p190+ in our AML population. PATIENTS AND METHODS: This study included 96 AML patients stratified according to WHO guidelines. Subsequently, patients were screened for genetic abnormalities, such as BCR::ABL1 p 190+, PML::RARA, RUNX1::RUNX1T1, and CBFB::MYH11 by quantitative reverse transcription polymerase chain reaction (RT-qPCR) analysis. RESULTS: Among 96 AML patients, 36 displayed BCR::ABL1 p190+, overcoming the expected global incidence. Age variations (19 to 78 years) showed no significant laboratory differences between BCR::ABL1 p190+ and non-BCR::ABL p190+ cases. The overall survival analysis revealed no statistically significant differences among the patients (p=0.786). CONCLUSION: The analyzed population presented a higher frequency of BCR::ABL1 p190+ detection in adult AML patients when compared to what is described in the worldwide literature. Therefore, more studies are needed to establish the reason why this incidence is higher and what the best treatment approach should be in these cases.
Assuntos
Proteínas de Fusão bcr-abl , Leucemia Mieloide Aguda , Humanos , Adulto , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/mortalidade , Pessoa de Meia-Idade , Masculino , Feminino , Proteínas de Fusão bcr-abl/genética , Idoso , Prognóstico , Adulto Jovem , MutaçãoRESUMO
Reference genes are used as internal reaction controls for gene expression analysis, and for this reason, they are considered reliable and must meet several important criteria. In view of the absence of studies regarding the best reference gene for the analysis of acute leukemia patients, a panel of genes commonly used as endogenous controls was selected from the literature for stability analysis: Glyceraldehyde-3-phosphate dehydrogenase (GAPDH), Abelson murine leukemia viral oncogene human homolog 1 (ABL), Hypoxanthine phosphoribosyl-transferase 1 (HPRT1), Ribosomal protein lateral stalk subunit P0 (RPLP0), ß-actin (ACTB) and TATA box binding protein (TBP). The stability of candidate reference genes was analyzed according to three statistical methods of assessment, namely, NormFinder, GeNorm and R software (version 4.0.3). From this study's analysis, it was possible to identify that the endogenous set composed of ACTB, ABL, TBP and RPLP0 demonstrated good performances and stable expressions between the analyzed groups. In addition to that, the GAPDH and HPRT genes could not be classified as good reference genes, considering that they presented a high standard deviation and great variability between groups, indicating low stability. Given these findings, this study suggests the main endogenous gene set for use as a control/reference for the gene expression in peripheral blood and bone marrow samples from patients with acute leukemias is composed of the ACTB, ABL, TBP and RPLP0 genes. Researchers may choose two to three of these housekeeping genes to perform data normalization.
Assuntos
Perfilação da Expressão Gênica , Leucemia , Camundongos , Animais , Humanos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Genes Essenciais , Gliceraldeído-3-Fosfato Desidrogenases/genética , Doença Aguda , Leucemia/genética , Expressão GênicaRESUMO
OBJETIVO: Apresentar os resultados iniciais de um serviço de transplante hepático que utiliza a técnica piggyback como padrão. MÉTODO: Análise retrospectiva de 19 transplantes de fígado enfatizando as complicações pós-operatórias e a taxa de sobrevida dos pacientes. A indicação mais freqüente de transplante foi cirrose pelo vírus C em nove pacientes (47 por cento). De acordo com a gravidade da doença hepática, nove casos (47,3 por cento) foram classificados como Child C e oito (42 por cento) como B. Os dois casos restantes foram hepatite fulminante e trombose tardia de artéria hepática. RESULTADOS: Foram realizados 19 transplantes em 18 pacientes com doador cadáver empregando a técnica com preservação da veia cava (piggyback) em 100 por cento dos casos. A indicação mais freqüente de transplante foi cirrose pelo virus C em nove pacientes (47 por cento). De acordo com a gravidade da doença hepática nove casos (47,3 por cento) foram classificados como Child C e oito (42 por cento) como B. Os dois casos restantes foram hepatite fulminante e trombose tardia de artéria hepática. A idade média foi de 45,6 anos. O tempo de isquemia fria do enxerto foi em média de 7,8 horas e a permanência hospitalar média de 18 dias. As complicações mais freqüentes foram as biliares (21 por cento), sendo que três pacientes necessitaram de reoperação e um foi tratado por endoscopia. Houve dois casos de trombose tardia de artéria hepática, sendo um deles tratado por retransplante. Houve um óbito (5,2 por cento) no 8o dia de pós-operatório ocasionado por disfunção primária do enxerto. A sobrevida inicial maior que 30 dias foi de 94,7 por cento. CONCLUSÕES: É possível ter bons resultados no início de um programa de transplante de fígado, desde que haja uma técnica padronizada e uma equipe bem treinada e envolvida com as complicações pós-operatórias.
BACKGROUND: To evaluate the preliminary results of a liver transplantation center that has piggyback as the standart technique. METHODS: Retrospective analysis of nineteen liver transplants emphasizing postoperative complications and patients survival rate. RESULTS: Nineteen liver transplants were performed in 18 patients, with nonliving donors, employing a technique that preserves vena cava (piggyback) in 100 percent of cases.The most frequent indication for liver transplantation was cirrhosis by virus C in nine patients (47 percent). According to severity of liver disease, nine cases (47.3 percent) were classified as Child C and eight (42 percent) as Child B. The last two cases were fulminant hepatitis and late hepatic artery thrombosis. The patients mean age was 45.6 years-old. Cold ischemia mean time was 7.8 hours and mean hospital stay was 18 days. The most frequent complications were biliary (21 percent), three patients requiring reoperation and one treated by endoscopy. Two cases of late hepatic artery thrombosis were found. One of them was retransplanted. One patient died (5,2 percent) at the 8th day postoperative due to primary nonfunction of the graft. The survival rate (more than 30 days) was 94.7 percent. CONCLUSIONS: These data suggest that it is possible to reach good results in the beginning of a liver transplantation program when there is a standart technique and a qualified group of professionals involved with postoperative complications.