RESUMO
OBJECTIVE: To analyze the comprehensive laboratory test data of BCR-ABL1 fusion gene and JAK2 V617F mutation co-expressed in myeloproliferative neoplasm (MPN) patients, and investigate its relative clinical significance. METHODS: Data of 1 332 MPN patients were comprehensively analyzed, BCR-ABL1 (P190/P210/P230) fusion gene and JAK2 V617F mutation were detected by real time-polymerase chain reaction (RT-PCR) technique, the CALR, MPL, JAK2 12 and 13 exon mutations were detected by the First Generation Sequencing, the bone marrow cell morphology and pathological characteristics were evaluated by bone marrow smear and biopsy technique, the immune phenotypes of bone marrow cells were evaluated by flow cytometry, the chromosome karyotypes of bone marrow cells were analyzed by chromosome G banding technique. RESULTS: Four of the 1 332 patients were found to have the co-existence of BCR-ABL1 fusion gene and the JAK2 V617F mutation, with a 0.3% incidence and a median age of 70 years old, including 2 cases of polycythemia vera, 1 case of primary myelofibrosis, and 1 case of chronic myeloid leukemia-accelerated phase. The clues of double positive genes of such patients at the time of initial diagnose could not be cued only by age, physical signs and cell morphology, they should be analyzed by comprehensive test data. CONCLUSION: The co-existence of BCR-ABL1 fusion gene and JAK2 V617F mutation in the same case is a kind of disease with special clinical significance. The application of multiple detection methods can improve the detection of this disease, which is conducive to early detection, reasonable diagnosis and treatment by clinicians.
Assuntos
Transtornos Mieloproliferativos , Policitemia Vera , Idoso , Proteínas de Fusão bcr-abl/genética , Humanos , Janus Quinase 2/genética , Laboratórios , Mutação , Transtornos Mieloproliferativos/genéticaRESUMO
BACKGROUND: Excessive activation of the inflammatory mediator cascade after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients is associated with high mortality. Many studies have shown that continuous blood purification (CBP) could improve the prognosis of allo-HSCT patients with severe infection. However, the exact mechanism remains unclear. The aim of this study was to observe the effect of CBP on the expression of ATP-binding cassette transporter A1 (ABCA1) in macrophages, and to investigate the interventional effects of CBP on serum cytokine in allo-HSCT patients with severe infection. METHODS: A total of 26 allo-HSCT patients with severe infection were included in this study. Before CBP and after CBP, blood samples were collected to observe hepatic and renal function, and the serum levels of TNF-α, IL-1, IL-6, and IL-10 were detected via ELISA. The THP-1 macrophages were exposed to serum samples obtained from patients at specific time points during CBP to test the changes of ABCA1 in macrophages by real-timePCR and Western blotting. RESULTS: Serum creatinine, alanine aminotransferase, and C reaction protein (CRP) levels decreased significantly after CBP. Moreover, TNF-α, IL-1, and IL-6 serum levels decreased significantly, but IL-10 level increased significantly after CBP (P<.05). After CBP, ABCA1 expression levels were higher than those before CBP, and ABCA1 expression was significantly increased with the supplementation of CBP (P<.05). CONCLUSIONS: CBP improved the condition of allo-HSCT patients with severe infection. CBP may be a potent up-regulator of the ABCA1 levels in macrophages of allo-HSCT patients with severe infection.
Assuntos
Transportador 1 de Cassete de Ligação de ATP/metabolismo , Infecções Bacterianas/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Hemofiltração , Macrófagos/metabolismo , Adolescente , Adulto , Infecções Bacterianas/sangue , Infecções Bacterianas/diagnóstico , Infecções Bacterianas/imunologia , Biomarcadores/sangue , Linhagem Celular , Citocinas/sangue , Feminino , Humanos , Mediadores da Inflamação/sangue , Macrófagos/imunologia , Masculino , Índice de Gravidade de Doença , Fatores de Tempo , Transplante Homólogo , Resultado do Tratamento , Regulação para Cima , Adulto JovemRESUMO
To investigate the effects of autologous hematopoietic stem cell transplantation (AHSCT) on immune index in patient with systemic lupus erythematosus (SLE), and evaluate its treatment outcome, the flow cytometry (FCM) and enzyme linked immunosorbent assay (ELISA) were used to detect the leukocyte differentiation antigen, sIL-2R, IL-6, C3, C4, autoantibodies, immunoglobulin for 33 case of SLE before transplantation and at 1, 3, 6, 12 months after transplantation. The results showed that the ratio of CD4(+), CD19(+) cell, the level of sIL-2R, IL-6 and the positive rate of autoantibodies were significantly lower, CD8(+), CD16(+)CD56(+) cell and C3, C4 were higher than those before transplantation. Out of the 33 patients, 26 achieved CR, 3 reached PR and 4 relapsed at 4 - 6 months after transplantation. It is concluded that the immune indexes of patients with SLE changed significantly following AHSCT. These immune indexes may be indications to predict the status of remission in patient with SLE.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Lúpus Eritematoso Sistêmico/terapia , Adolescente , Adulto , Relação CD4-CD8 , Criança , Feminino , Humanos , Interleucina-6/sangue , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Receptores de Interleucina-2/análise , Recidiva , Linfócitos T/imunologia , Transplante AutólogoRESUMO
OBJECTIVE: Analyze the variation of T cell receptor(beta) (TCRbeta) CDR3 gene expressing repertoire in systemic lupus erythematosus (SLE) patients before and after autologous peripheral blood hematopoietic stem cell transplantation (APBSCT), to search the pathogenesis of SLE and characteristics of T cell reconstitute immune after APBSCT. METHODS: Reverse transcriptase - polymerase chain reaction (RT-PCR) amplified 25 subfamily genes of TCRbeta prom peripheral blood lymphocytes (PBLs) of SLE patient with APBSCT and run denaturation polyacrylamide sequencing gel electrophoresis, set up a map of TCRbetaCDR3 gene expressing repertoire. The bands of TCRbeta gene repertoire in the electrophoresis gel can be used to analyze the variety of T cell clones which expanded and disappeared in cases of SLE. Cut the bands and sequencing. Compare sequences of TCRbetagenes in normal and abnormal T cell clones to understand the relationship between TCRbeta gene and autoimmune diseases. RESULTS: In the normal control group, TCRbeta gene repertoires show more than 10 bands in each of 25 TCRbetaV families, characterized as Gaussian distribution. TCRbeta gene repertoire in the 8 patients with SLE were abnormally. Four patients expressed TCRbetaV13.1 gene preferentially. Three patients had TCRbetaV8, TCRbetaV9 and TCRbetaV18 genes over expressed. These over expressive genes represented the oligoclonal expansion of T cell populations. After APBSCT the TCRbeta gene repertoires regained CDR3 polymorphism in 5 patients, some of them recovered to normal completely. The sequencing analyse show dense and strong band in map of TCRbeta gene repertoires were T cell monoclonal or oligoclonal expansion frequently. In a case of SLE an amino acid sequence of TCRbetaV8 CDR3 was same to a sequence of disease correlative T cell clone with ankylosing spondylitis that had been reported in a literature before. CONCLUSION: SLE patients have oligoclonal expansion of T cell that related with the pathogenesis of autoimmune disease. After APBSCT, T cell clones recover to normal distribution. T cell clones that related with disease have been suppressed during immunological reconstitution. It may be a main reason the SLE get remission after transplantation.