Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 19 de 19
Filtrar
1.
Surg Case Rep ; 10(1): 133, 2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38806890

RESUMO

BACKGROUND: Biliary obstruction due to compression by a B-cell solid tumor occurs rarely. A few reports have described biliary reconstruction surgery for obstructive jaundice caused by Burkitt's lymphoma. However, there are no detailed reports on pediatric cases. We report a pediatric case of obstructive jaundice due to malignant lymphoma treated with biliary reconstruction surgery. CASE PRESENTATION: A 5-year-old girl presented to our hospital with a massive abdominal tumor that caused biliary stricture. Chemotherapy was initiated after an open tumor biopsy. However, endoscopic biliary stent placement was performed owing to elevated bilirubin levels. We treated the patient with chemotherapy for 9 months while endoscopically replacing the biliary stent every few months. She achieved complete tumor remission. However, sclerotic lymph nodes were persistent on the dorsal side of the cholecystic duct junction, and biliary stricture at the same site had changed to stent-dependent biliary obstruction. Therefore, we performed choledochojejunostomy and retrocolic Roux-en-Y reconstruction 15 months after initial admission. There were no postoperative complications or tumor recurrences, and the bilirubin level remained low. Histopathologically, the resected bile duct wall was fibrotic and thick, and the bile duct lumen narrowed. CONCLUSIONS: Biliary reconstruction is effective to achieve long-term biliary patency in pediatric patients with stent-dependent biliary obstruction due to malignant lymphoma. However, the decision on when to stop biliary stent replacement and proceed to biliary reconstruction surgery is a matter of debate. Further case studies are required to address this issue.

2.
Blood Adv ; 5(23): 5420-5428, 2021 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-34662904

RESUMO

The effect of genetic variation on second malignant neoplasms (SMNs) remains unclear. First, we identified the pathogenic germline variants in cancer-predisposing genes among 15 children with SMNs after childhood leukemia/lymphoma using whole-exome sequencing. Because the prevalence was low, we focused on the association between SMNs and NUDT15 in primary acute lymphoblastic leukemia (ALL) cases. NUDT15 is one of the 6-mercaptopurine (6-MP) metabolic genes, and its variants are common in East Asian individuals. The prevalence of NUDT15 hypomorphic variants was higher in patients with SMNs (n = 14; 42.9%) than in the general population in the gnomAD database (19.7%; P = .042). In the validation study with a cohort of 438 unselected patients with ALL, the cumulative incidence of SMNs was significantly higher among those with (3.0%; 95% confidence interval [CI], 0.6% to 9.4%) than among those without NUDT15 variants (0.3%; 95% CI, 0.0% to 1.5%; P = .045). The 6-MP dose administered to patients with ALL with a NUDT15 variant was higher than that given to those without SMNs (P = .045). The 6-MP-related mutational signature was observed in SMN specimens after 6-MP exposure. In cells exposed to 6-MP, a higher level of 6-MP induced DNA damage in NUDT15-knockdown induced pluripotent stem cells. Our study indicates that NUDT15 variants may confer a risk of SMNs after treatment with 6-MP in patients with ALL.


Assuntos
Segunda Neoplasia Primária , Leucemia-Linfoma Linfoblástico de Células Precursoras , Antimetabólitos Antineoplásicos/uso terapêutico , Criança , Humanos , Incidência , Segunda Neoplasia Primária/epidemiologia , Segunda Neoplasia Primária/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Pirofosfatases/genética , Pirofosfatases/uso terapêutico
3.
J Pediatr Hematol Oncol ; 40(1): 63-66, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28538512

RESUMO

Leukocyte-adhesion deficiency-1 is a recessively inherited disorder associated with recurrent bacterial infections, severe periodontitis, peripheral leukocytosis, and impaired wound healing. We diagnosed moderate-type leukocyte-adhesion deficiency-1 in a 7-year-old girl who developed a necrotizing ulcer after Bacillus Calmette-Guerin vaccination. The patient showed moderate expression of CD18 in neutrophils with a homozygous splice mutation with c.41_c.58+2dup20 of ITGB2 and experienced recurrent severe infections complicated with systemic lupus erythematosus. She received hematopoietic stem cell transplantation from a matched elder brother with heterozygous mutation of ITGB2, and has since remained free of infection and systemic lupus erythematosus symptoms without immunosuppression therapy.


Assuntos
Antígenos CD18/genética , Transplante de Células-Tronco Hematopoéticas/métodos , Síndrome da Aderência Leucocítica Deficitária/complicações , Mycobacterium bovis/imunologia , Úlcera/etiologia , Vacinação/efeitos adversos , Antígenos CD18/análise , Criança , Feminino , Heterozigoto , Homozigoto , Humanos , Síndrome da Aderência Leucocítica Deficitária/diagnóstico , Síndrome da Aderência Leucocítica Deficitária/terapia , Masculino , Mutação , Necrose , Neutrófilos/citologia , Irmãos , Resultado do Tratamento , Úlcera/terapia
4.
Medicine (Baltimore) ; 96(26): e7329, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28658145

RESUMO

RATIONALE: Central nervous system (CNS) leukemia is a frequent diagnosis in pediatric acute myeloblastic leukemia (AML) and includes neural symptoms. However, CNS leukemia is rarely associated with central hypsothyroidism. PATIENT CONCERNS AND DIAGNOSES: A 2-year-old female with AML with MLL rearrangement presented with CNS infiltration. Laboratory tests suggested the presence of central hypothyroidism (thyroid-stimulating hormone [TSH]: 0.48 mIU/ml, normal range 0.7-6.4 mIU/ml; serum free thyroxine [FT4]: 0.62 ng/dl, normal range 0.8-2.2 ng/dl; free triiodothyronine: 1.57 pg/ml, normal range 2.7-5.6 pg/ml). Magnetic resonance imaging detected no lesions in the hypothalamus, pituitary, or thyroid. INTERVENTIONS AND OUTCOMES: Levothyroxine (2.5 mg/kg/day) was administered together with chemotherapy and intrathecal injection of methotrexate, cytarabine, and hydrocortisone into the cerebrospinal fluid. The FT4 concentration increased after levothyroxine treatment, but later decreased after relapse of CNS leukemia. The TSH concentrations remained low. After remission of CNS leukemia, the TSH and FT4 concentrations quickly recovered to their normal ranges. LESSONS: We believe that the CNS leukemia directly affected TSH and thyroid hormone secretion in our patient.


Assuntos
Neoplasias do Sistema Nervoso Central/complicações , Neoplasias do Sistema Nervoso Central/metabolismo , Hipotireoidismo/complicações , Leucemia Monocítica Aguda/complicações , Leucemia Monocítica Aguda/patologia , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/tratamento farmacológico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Hipotireoidismo/diagnóstico por imagem , Hipotireoidismo/tratamento farmacológico , Leucemia Monocítica Aguda/diagnóstico por imagem , Leucemia Monocítica Aguda/tratamento farmacológico , Tireotropina/sangue
5.
Medicine (Baltimore) ; 95(10): e2904, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26962787

RESUMO

Burkitt-type acute lymphoblastic leukemia (B-ALL) is thought as a variant of Burkitt lymphoma/leukemia and derived from mature B-cell lymphoblast.B-ALL was developed in a 10-year-old girl. Two characteristics were apparent in this case. First, the lymphoblastic cells were positive for CD10, CD19, CD20, and CD22, but negative for terminal deoxynucleotidyl transferase and surface immunoglobulins, indicating a B-cell immunophenotype. The detection of t(8;14)(q24;q32) with a chromosomal analysis is required for a diagnosis of B-ALL. Second, der(1)(pter → q32.1::q32.1 → q21.1::q11 → qter) was detected, in which 1q21.1 to 1q32.1 was inverted and inserted. Finally, partial tetrasomy of 1q was also present. Because B-ALL with abnormal chromosome 1 has been reported poor outcome, the usual chemotherapy for stage 4 Burkitt lymphoma with added rituximab was administered for our patient.We report B-ALL with precursor B-cell immunophenotype and interesting partial tetrasomy of 1q.


Assuntos
Linfoma de Burkitt , Cromossomos Humanos Par 1 , Células Precursoras de Linfócitos B/imunologia , Rituximab/administração & dosagem , Tetrassomia/diagnóstico , Antineoplásicos/administração & dosagem , Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/tratamento farmacológico , Linfoma de Burkitt/genética , Linfoma de Burkitt/imunologia , Criança , Feminino , Humanos , Imunofenotipagem/métodos , Prognóstico , Resultado do Tratamento
7.
Pediatr Transplant ; 18(7): E255-7, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25130056

RESUMO

A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnormality 45,XY,der(5;17)(p10;q10). He rapidly developed karyotype abnormalities, accompanied by the loss of tumor suppressor gene TP53 function. He suffered an early relapse after reduced-intensity-conditioning SCT and ultimately required myeloablative therapy before a second SCT. We consider that the analysis of TP53 mutations is essential when planning the treatment of patients with MDS.


Assuntos
Agonistas Mieloablativos/uso terapêutico , Síndromes Mielodisplásicas/terapia , Transplante de Células-Tronco , Adolescente , Aberrações Cromossômicas , Progressão da Doença , Deleção de Genes , Genótipo , Humanos , Cariotipagem , Masculino , Mutação , Síndromes Mielodisplásicas/genética , Prognóstico , Fatores de Risco , Proteína Supressora de Tumor p53/metabolismo
8.
Rinsho Ketsueki ; 54(12): 2167-70, 2013 Dec.
Artigo em Japonês | MEDLINE | ID: mdl-24452147

RESUMO

We describe a 36-month-old boy with acute monoblastic leukemia (AMoL M5a) and mixed-lineage leukemia (MLL)-AF9 rearrangement. At 18 months of age, he presented with swelling on the back of his hand that was considered to be an inflammatory change, but no hematological abnormalities were found. However, blasts with MLL-AF9 rearrangement were detected in biopsied tissue taken at the time and in peripheral blood samples taken 18 months later. These findings indicate that myeloid sarcoma with MLL-AF9 rearrangement may ultimately, though slowly, progress to AMoL.


Assuntos
Rearranjo Gênico/genética , Leucemia Monocítica Aguda/patologia , Sarcoma Mieloide/patologia , Antígenos CD/metabolismo , Antígenos de Diferenciação Mielomonocítica/metabolismo , Biópsia/métodos , Pré-Escolar , Humanos , Leucemia Monocítica Aguda/etiologia , Leucemia Monocítica Aguda/genética , Leucemia Monocítica Aguda/terapia , Masculino , Proteína de Leucina Linfoide-Mieloide/genética , Proteína de Leucina Linfoide-Mieloide/metabolismo , Indução de Remissão , Sarcoma Mieloide/complicações , Sarcoma Mieloide/genética
9.
Ital J Pediatr ; 38: 53, 2012 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-23067429

RESUMO

Iodine-131-metaiodiobenzylguanidine (131I-MIBG) therapy combined with allogeneic cord blood stem cell transplantation (SCT) was used to treat a 4-year-old girl with recurrent neuroblastoma. The patient experienced relapse 2 years after receiving first-line therapies, which included chemotherapy, surgical resection, irradiation, and autologous peripheral SCT. Although 131I-MIBG treatment did not achieve complete remission, the size of the tumor was reduced after treatment. Based on our findings, we suggest that 131I-MIBG treatment with myeloablative allogeneic SCT should be considered as first-line therapy for high-risk neuroblastoma patients when possible.


Assuntos
3-Iodobenzilguanidina/uso terapêutico , Neoplasias das Glândulas Suprarrenais/terapia , Antineoplásicos/uso terapêutico , Transplante de Células-Tronco de Sangue do Cordão Umbilical , Radioisótopos do Iodo/uso terapêutico , Neuroblastoma/terapia , Compostos Radiofarmacêuticos/uso terapêutico , Terapia Combinada , Evolução Fatal , Feminino , Humanos , Lactente , Recidiva Local de Neoplasia
11.
Pediatr Hematol Oncol ; 28(1): 24-30, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21247349

RESUMO

Viridans streptococcal bacteremia is a prognostic factor in pediatric patients with malignant disease accompanied by severe neutropenia. Here the authors describe 4 patients with viridans streptococcal bacteremia-related encephalopathy who showed serious complications, which included seizures and loss of consciousness. Therapy for relief of brain edema on seizures was started quickly, and included the administration of midazolam, dexamethasone, and mannitol with antimicrobial therapy. The treatment was successfully completed without sequelae. The authors registered 28 episodes of viridans streptococcal bacteremia in their hospital. The peak of serum C-reaction protein was higher in viridans streptococcal bacteremia patients with encephalopathy than in those without encephalopathy. The authors concluded that viridans streptococcal bacteremia can induce encephalopathy in pediatric patients with malignancy and that it is crucial to establish an accurate diagnosis and initiate therapy as soon as possible.


Assuntos
Bacteriemia/complicações , Encefalopatias/complicações , Encefalopatias/microbiologia , Neoplasias/complicações , Estreptococos Viridans/fisiologia , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Bacteriemia/diagnóstico , Bacteriemia/tratamento farmacológico , Bacteriemia/microbiologia , Neoplasias Ósseas/complicações , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/tratamento farmacológico , Criança , Doença Crônica , Infecções por Vírus Epstein-Barr/complicações , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/tratamento farmacológico , Feminino , Humanos , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/tratamento farmacológico , Masculino , Neoplasias/diagnóstico , Neoplasias/tratamento farmacológico , Neuroblastoma/complicações , Neuroblastoma/diagnóstico , Neuroblastoma/tratamento farmacológico , Neutropenia/complicações , Neutropenia/diagnóstico , Neutropenia/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Sarcoma de Ewing/complicações , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/tratamento farmacológico , Estreptococos Viridans/efeitos dos fármacos
12.
Clin Pract ; 1(3): e56, 2011 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-24765317

RESUMO

We observed the changes in serum levels of interleukin 6 (IL-6) and C-reactive protein (CRP) in a patient with hepatoblastoma exhibiting thrombocytosis. The concomitant changes of IL-6 and CRP concentrations after the initiation of chemotherapy, in the absence of infection, suggested that the IL-6, which is synthesized in hepatoblastoma cells and induces thrombocytosis, also stimulated CRP production in the present case. IL-6 is thought to play an important role in thrombocytosis in hepatoblastoma.

13.
J Biol Chem ; 285(3): 1850-60, 2010 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-19887369

RESUMO

The E2A-HLF fusion transcription factor generated by t(17;19)(q22;p13) translocation is found in a small subset of pro-B cell acute lymphoblastic leukemias (ALLs) and promotes leukemogenesis by substituting for the antiapoptotic function of cytokines. Here we show that t(17;19)+ ALL cells express Survivin at high levels and that a dominant negative mutant of E2A-HLF suppresses Survivin expression. Forced expression of E2A-HLF in t(17;19)(-) leukemia cells up-regulated Survivin expression, suggesting that Survivin is a downstream target of E2A-HLF. Analysis using a counterflow centrifugal elutriator revealed that t(17;19)+ ALL cells express Survivin throughout the cell cycle. Reporter assays revealed that E2A-HLF induces survivin expression at the transcriptional level likely through indirect down-regulation of a cell cycle-dependent cis element in the promoter region. Down-regulation of Survivin function by a dominant negative mutant of Survivin or reduction of Survivin expression induced massive apoptosis throughout the cell cycle in t(17;19)+ cells mainly through caspase-independent pathways involving translocation of apoptosis-inducing factor (AIF) from mitochondria to the nucleus. AIF knockdown conferred resistance to apoptosis caused by down-regulation of Survivin function. These data indicated that reversal of AIF translocation by Survivin, which is induced by E2A-HLF throughout the cell cycle, is one of the key mechanisms in the protection of t(17;19)+ leukemia cells from apoptosis.


Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Fatores de Transcrição de Zíper de Leucina Básica/metabolismo , Proteínas Associadas aos Microtúbulos/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Proteínas Recombinantes de Fusão/metabolismo , Translocação Genética/genética , Regulação para Cima , Animais , Apoptose , Sequência de Bases , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Fatores de Transcrição de Zíper de Leucina Básica/genética , Caspases/metabolismo , Ciclo Celular/genética , Linhagem Celular Tumoral , Sobrevivência Celular/genética , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 19/genética , Humanos , Proteínas Inibidoras de Apoptose , Camundongos , Dados de Sequência Molecular , Mutação , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Células Precursoras de Linfócitos B/citologia , Células Precursoras de Linfócitos B/metabolismo , Regiões Promotoras Genéticas/genética , Survivina , Ativação Transcricional
14.
J Pediatr Hematol Oncol ; 31(9): 678-80, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19707158

RESUMO

Myeloproliferative diseases (MPDs) in childhood are quite rare. Although pediatric and adult MPDs exhibit similar hematologic findings, JAK2V617F mutations and clonality status of MPDs in the DNA of neutrophils are evaluated less frequently in children than in adults. Increased incidence of venous thrombosis at uncommon sites is associated with JAK2V617F mutation in MPDs and thrombotic complications are more common in essential thrombocythemia (ET). Here, we describe 6-year-old girl with clonal myelopoiesis and JAK2V617F-positive ET associated with cerebral venous sinus thrombosis. To our knowledge, this is the first report of pediatric monoclonal and JAK2V617F-positive ET with cerebral venous sinus thrombosis.


Assuntos
Janus Quinase 2/genética , Trombose dos Seios Intracranianos/etiologia , Trombocitemia Essencial/genética , Aspirina/uso terapêutico , Criança , Células Clonais/patologia , Citotoxinas/uso terapêutico , Diagnóstico Diferencial , Feminino , Cefaleia/etiologia , Humanos , Hidroxiureia/uso terapêutico , Náusea/etiologia , Inibidores da Agregação Plaquetária/uso terapêutico , Recidiva , Trombose dos Seios Intracranianos/diagnóstico , Trombose dos Seios Intracranianos/tratamento farmacológico , Neoplasias Supratentoriais/diagnóstico , Trombocitemia Essencial/complicações , Trombocitemia Essencial/tratamento farmacológico , Trombocitemia Essencial/patologia , Trombofilia/tratamento farmacológico , Trombofilia/etiologia
15.
Pediatr Transplant ; 13(2): 231-4, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18627511

RESUMO

EBV-infected T-/NK cells play an important role in the pathogenesis of mosquito allergy, and the prognosis of most patients with mosquito allergy is poor without proper treatment. We describe a 13-yr-old boy who had CAEBV with mosquito allergy and was successfully treated with BMT from an unrelated donor after reduced-intensity preconditioning. Because combination chemotherapy failed to achieve CR, we performed unrelated BMT to reconstitute normal immunity and eradicate any residual EBV-infected cells. To reduce complications after BMT, we selected a reduced-intensity preconditioning regimen consisting of fludarabine, l-phenylalanine mustard, and antithymocyte Ig instead of a conventional myeloablative preconditioning. Although grade II acute GVHD developed, it was successfully controlled with immunosuppressive therapy. After 27 months, the patient has been well without any signs of CAEBV, and the EBV DNA has been undetectable with real-time PCR analysis. We conclude that RIST from the bone marrow of an unrelated donor is indicated for some patients who have CAEBV that is refractory to chemotherapy and who have no HLA-matched related donors or cord blood as a source of stem cells.


Assuntos
Transplante de Medula Óssea/métodos , Culicidae/metabolismo , Infecções por Vírus Epstein-Barr/metabolismo , Herpesvirus Humano 4/metabolismo , Transplante Homólogo/métodos , Adolescente , Alérgenos/química , Animais , Antineoplásicos/farmacologia , Doença Crônica , Culicidae/imunologia , Humanos , Hipersensibilidade , Masculino , Reação em Cadeia da Polimerase
17.
Rinsho Ketsueki ; 46(4): 274-7, 2005 Apr.
Artigo em Japonês | MEDLINE | ID: mdl-16444960

RESUMO

A 4-year-old boy with Down syndrome (DS) was diagnosed as having acute monoblastic leukemia (AML-M5a). Leukemic cells were CD33+, CD56+ and CD4+, with t(9;11) on cytogenetic analysis and MLL gene rearrangement. After 2 courses of induction therapy using an AML 99-Down protocol failed to obtain complete remission, the patient received cord blood transplantation from an HLA-matched donor (CBT) following a conditioning regimen comprising total body irradiation and cyclophosphamide. Only cyclosporin A was used for graft-versus-host disease prophylaxis. Stem cell transplantation may not be indicated for AML patient with DS in first remission, who display a high rate of life-threatening and fatal toxicity on therapy. This patient remained well controlled in complete remission for 4 years, representing a rare case of DS with chemotherapy-resistant AML successfully treated with a CBT.


Assuntos
Transplante de Células-Tronco de Sangue do Cordão Umbilical , Síndrome de Down/complicações , Leucemia Monocítica Aguda/terapia , Pré-Escolar , Ciclosporina/administração & dosagem , Doença Enxerto-Hospedeiro/prevenção & controle , Humanos , Leucemia Monocítica Aguda/diagnóstico , Leucemia Monocítica Aguda/genética , Masculino , Indução de Remissão , Fatores de Tempo , Condicionamento Pré-Transplante , Resultado do Tratamento
18.
Blood ; 103(8): 3185-91, 2004 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-15070701

RESUMO

In pro-B cell acute lymphoblastic leukemia (ALL), expression of the E2A-HLF fusion gene as a result of t(17;19)(q22;p13) is associated with poor prognosis, hypercalcemia, and hemorrhagic complications. We previously reported that the E2A-HLF fusion protein protects interleukin-3 (IL-3)-dependent lymphoid cells from apoptosis caused by cytokine starvation. Here, we report that annexin II, a surface phospholipid-binding protein and one of the proposed causes of the hemorrhagic complications of acute promyelocytic leukemia (APL), is also implicated in t(17;19)+ ALL. Annexin II was expressed at high levels in APL cells and in each of 4 t(17;19)+ leukemia cell lines, and annexin II expression was induced by enforced expression of E2A-HLF in leukemia cells. In IL-3-dependent cells, we found that annexin II expression was regulated by IL-3 mainly by Ras pathways, including Ras/phosphatidylinositol 3-kinase pathways. Moreover, E2A-HLF increased annexin II expression in IL-3-dependent cells in the absence of the cytokine. These findings indicate that E2A-HLF induces annexin II by substituting for cytokines that activate downstream pathways of Ras.


Assuntos
Anexina A2/metabolismo , Proteínas de Ligação a DNA/metabolismo , Proteínas de Fusão Oncogênica/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras B/metabolismo , Anexina A2/genética , Apoptose , Sequência de Bases , Linhagem Celular Tumoral , Membrana Celular/metabolismo , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 19/genética , Citocinas/metabolismo , DNA de Neoplasias/genética , Proteínas de Ligação a DNA/genética , Humanos , Interleucina-3/metabolismo , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Transdução de Sinais , Fatores de Transcrição , Translocação Genética
19.
Oncogene ; 22(18): 2851-5, 2003 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-12743608

RESUMO

We showed that the LAF4 gene on 2q11.2-12 was fused to the MLL gene on 11q23 in a pediatric patient with CD10 positive acute lymphoblastic leukemia (ALL) having t(2;11)(q11;q23). The LAF4 gene, which encodes a lymphoid nuclear protein of 1227 amino acids with transactivation potential, is thought to have a role in early lymphoid development. The LAF4 protein was homologous to AF4 and AF5q31 proteins that are fused to MLL in infant early pre-B ALL and the breakpoint of LAF4 was located within the region homologous to the transactivation domain of AF4 and AF5q31. Expression of the 8.5-kb LAF4 transcript was detected in the adult heart, brain, and placenta and in the fetal brain. LAF4 expression was found to be higher in ALL cell lines than in AML and Epstein-Barr virus-transformed B-lymphocyte cell lines. These findings suggest that LAF4, AF4 and AF5q31 might define a new family particularly involved in the pathogenesis of 11q23-associated ALL.


Assuntos
Cromossomos Humanos Par 11 , Cromossomos Humanos Par 2 , Proteínas de Ligação a DNA/genética , Proteínas Nucleares/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proto-Oncogenes , Fatores de Transcrição , Translocação Genética , Fusão Gênica Artificial , Sequência de Bases , Pré-Escolar , Mapeamento Cromossômico , Primers do DNA , Feminino , Rearranjo Gênico , Histona-Lisina N-Metiltransferase , Humanos , Hibridização in Situ Fluorescente , Proteína de Leucina Linfoide-Mieloide , Neprilisina/análise , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Transcrição Gênica , Ativação Transcricional , Fatores de Elongação da Transcrição , Dedos de Zinco
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA