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1.
J Pediatr ; 158(1): 142-8, 148.e1, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20846672

RESUMO

OBJECTIVE: To better describe the natural history, mode of inheritance, and the epidemiological and clinical features of isolated congenital asplenia, a rare and poorly understood primary immunodeficiency. STUDY DESIGN: A French national retrospective survey was conducted in hospital pediatric departments. A definitive diagnosis of ICA was based on the presence of Howell-Jolly bodies, a lack of detectable spleen, and no detectable cardiovascular malformation. RESULTS: The study included 20 patients (12 males and 8 females) from 10 kindreds neither related to each other nor consanguineous. The diagnosis of ICA was certain in 13 cases (65%) and probable in 7 cases (35%). Ten index cases led to diagnosis of 10 additional cases in relatives. Five cases were sporadic and 15 were familial, suggesting autosomal dominant inheritance. Median age was 12 months at first infection (range, 2-516 months), 11 months at diagnosis of asplenia (range, 0-510 months), and 9.9 years at last follow-up (range, 0.7-52 years). Fifteen patients sustained 18 episodes of invasive bacterial infection, caused mainly by Streptococcus pneumoniae (61%). Outcomes were poor, with 9 patients (45%) dying from fulminant infection. CONCLUSIONS: ICA is more common than was previously thought, with an autosomal dominant inheritance in at least some kindreds. Relatives of cases of ICA should be evaluated for ICA, as should children and young adults with invasive infection.


Assuntos
Baço/anormalidades , Adolescente , Adulto , Criança , Pré-Escolar , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/genética , Feminino , França/epidemiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , Estudos Retrospectivos , Adulto Jovem
2.
N Engl J Med ; 347(2): 89-94, 2002 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-12110736

RESUMO

BACKGROUND: Some epidemiologic studies suggest a link between hepatitis C virus (HCV) infection and some B-cell non-Hodgkin's lymphomas. We undertook this study after a patient with splenic lymphoma with villous lymphocytes had a hematologic response after antiviral treatment of HCV infection. METHODS: Nine patients who had splenic lymphoma with villous lymphocytes and HCV infection were treated with interferon alfa-2b (3 million IU three times per week) alone or in combination with ribavirin (1000 to 1200 mg per day). The outcomes were compared with those of six similarly treated patients with splenic lymphoma with villous lymphocytes who tested negative for HCV infection. RESULTS: Of the nine patients with HCV infection who received interferon alfa, seven had a complete remission after the loss of detectable HCV RNA. The other two patients had a partial and a complete remission after the addition of ribavirin and the loss of detectable HCV RNA. One patient had a relapse when the HCV RNA load again became detectable in blood. In contrast, none of the six HCV-negative patients had a response to interferon therapy. CONCLUSIONS: In patients with splenic lymphoma with villous lymphocytes who are infected with HCV, treatment with interferon can lead to regression of the lymphoma.


Assuntos
Antivirais/uso terapêutico , Hepacivirus/patogenicidade , Hepatite C/tratamento farmacológico , Interferon-alfa/uso terapêutico , Linfoma de Células B/virologia , Neoplasias Esplênicas/virologia , Adulto , Idoso , Feminino , Hepacivirus/genética , Hepacivirus/isolamento & purificação , Hepatite C/complicações , Humanos , Linfócitos , Linfoma de Células B/complicações , Linfoma de Células B/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , RNA Viral/análise , Indução de Remissão/métodos , Neoplasias Esplênicas/complicações , Neoplasias Esplênicas/tratamento farmacológico
3.
Leuk Lymphoma ; 48(1): 89-96, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17327950

RESUMO

Successful peripheral blood stem cell (PBSC) collection depends on the timing of apheresis based on CD34+ cell enumeration. Because this analysis is expensive and induces organization difficulties, we evaluated hematopoietic progenitor cell (HPC) quantification on the Sysmex XE-2100 as a surrogate analysis. We tested 157 blood samples for CD34+ cells and HPC counts. We found a good linear correlation between HPC and CD34+ and determined simple rules allowing to use HPC count in daily practice. We set a positive cut-off >30 HPC/mm(3) for allowing PBSC harvest and a negative cut-off at 0 HPC/mm(3) for which collection should be delayed. These two situations accounted for 62% of cases and CD34+ cell count by flow cytometry confirmed HPC result in 95% of cases. Between 0 and 30 HPC/mm3, CD34+ enumeration is required for decision-making. We conclude that HPC count may be a useful surrogate for CD34+ enumeration in PBSC harvest monitoring.


Assuntos
Contagem de Células Sanguíneas/instrumentação , Células-Tronco Hematopoéticas/citologia , Coleta de Tecidos e Órgãos , Antígenos CD34/análise , Antígenos CD34/sangue , Humanos , Sensibilidade e Especificidade
4.
Leuk Lymphoma ; 47(10): 2088-95, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17071481

RESUMO

Diagnosis of leukemic B-cell chronic lymphoproliferative disorders (B-CLPD) is a frequent challenge in hematology. In this multicentric study, we prospectively studied 165 new consecutive leukemic patients with B-CLPD selected on the basis of Royal Marsden Hospital scoring system < or =3. The primary aim of the study was to try to decipher the atypical cases and identify homogenous subgroups. Overall, morphological examination contributed to diagnosis in only 20% cases, all of them CD5 negative. Thirty additional cases were CD5 negative suggestive of leukemic marginal zone lymphoma in most cases. The significantly poorer survival of the 26 cyclin D1 positive cases justifies recommending its systematic determination among atypical B-CLPD. CD20 expression segregated clearly two subgroups among CD5 positive cyclin D1 negative B-CLPD. The 17 patients with the CD20 dim profile represent a homogeneous subgroup very close to typical B-cell chronic lymphocytic leukemia (B-CLL) on morphological, phenotypical and cytogenetical criteria. In contrast, the subgroup of 51 patients with a CD20 bright profile is heterogeneous. Their significantly lower p27 expression level suggest the presence of a proliferative component, underlying a more aggressive disease. Further genomic studies are warranted to establish their precise nature. These cases should not be included in the same therapeutic trials as B-CLL.


Assuntos
Linfoma de Células B/diagnóstico , Linfoma de Células B/genética , Transtornos Linfoproliferativos/genética , Transtornos Linfoproliferativos/patologia , Idoso , Antígenos CD20/biossíntese , Antígenos CD5/biossíntese , Ciclo Celular , Estudos de Coortes , Ciclina D1/biossíntese , Inibidor de Quinase Dependente de Ciclina p27/biossíntese , Feminino , Humanos , Imunofenotipagem , Linfoma de Células B/classificação , Transtornos Linfoproliferativos/classificação , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos
5.
Cancer Res ; 64(21): 8101-8, 2004 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-15520222

RESUMO

In acute myeloid leukemia (AML), coexpression of death receptors and ligands of the tumor necrosis factor (TNF) receptor/TNF-alpha superfamily on leukemic cells after chemotherapy is not always accompanied by apoptosis, suggesting that the apoptotic death receptor signaling pathway is disrupted. Because Fas-associated protein with death domain (FADD) is the main adaptor for transmitting the Fas, TNF-related apoptosis-inducing ligand receptors, and TNF receptor 1 death signal, expression of FADD was analyzed by Western blot and immunocytochemistry in leukemic cells of 70 de novo AML patients treated with the European Organization of Research and Treatment of Cancer AML-10 randomized trial before initiation of induction chemotherapy. Thirty seven percent of patients (17 of 46) with FADD negative/low (FADD(-/low)) leukemic cells had a primary refractory disease compared with 12% of FADD(+) patients (3 of 24; P = 0.05). FADD(-/low) expression was significantly associated with a worse event-free survival [EFS (P = 0.04)] and overall survival (P = 0.04). In multivariate analysis, FADD(-/low) protein expression was independently associated with a poor EFS and overall survival (P = 0.002 and P = 0.026, respectively). Importantly, FADD(-/low) protein expression predicted poor EFS even in patients with standard- or good-risk AML (P = 0.009). Thus, we identified low or absent expression of the FADD protein in leukemic cells at diagnosis as a poor independent prognostic factor that can predict worse clinical outcome even for patients with standard- or good-risk AML.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/análise , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/metabolismo , Adolescente , Adulto , Western Blotting , Caspases/fisiologia , Linhagem Celular Tumoral , Resistencia a Medicamentos Antineoplásicos , Proteína de Domínio de Morte Associada a Fas , Humanos , Imuno-Histoquímica , Leucemia Mieloide Aguda/mortalidade , Microscopia Confocal , Microscopia de Fluorescência , Pessoa de Meia-Idade , Prognóstico , Receptor fas/análise
6.
Haematologica ; 88(8): 941-55, 2003 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12935983

RESUMO

BACKGROUND AND OBJECTIVES: The CD4+ CD56+ lin- immunophenotype characterizes rare malignancies, so far considered as arising from the transformation of NK progenitors, and therefore classified as blastic NK-cell leukemia/lymphoma by the WHO committee. Recently it was formally demonstrated that such malignancies do, in fact, develop from plasmacytoid dendritic cells (pDC), according to immunophenotypic and functional criteria. The clinico-biological features of this neoplasm were moreover recently summarized from a large series of 23 patients. INFORMATION SOURCES: The main symptoms at presentation were cutaneous lesions and bone marrow failure, due to invasion by blastic cells, all of which were EBV negative and agranular. Most patients were initially sensitive to chemotherapy regimens, but they rapidly relapsed and died within 3 years. Only 2 allotransplanted patients were long survivors. Recurrent chromosomal aberrations involving chromosomes 5q, 6q, 12p, 13q, 15q and 9 were described and it was characteristic that these were associated in the same cell. In the present review we compared these findings to those in the literature. STATE OF THE ART AND PERSPECTIVES: The concordant characteristics led us to confirm that this neoplasm actually represents a new entity, that we propose to rename early pDC leukemia/lymphoma. The diagnosis is primarily based on a characteristic immunophenotypic profile i.e. CD4+ CD56+ CD3- CD13- CD33- CD19-. Complementary analyses assessing the expression of more specific pDC-related markers showed the cells to be HLA-DR+, CD123high, CD116low, CD45RA+, BDCA-2+ or BDCA-4+. Such complementary investigations are necessary only in the case of an atypical phenotype, in order to confirm a pDC origin and exclude another hematologic disease. This presently regards the expression of CD33 or cytoplasmic CD3e (cyCD3e) and the negativity of CD56.


Assuntos
Antígenos CD4/biossíntese , Antígeno CD56/biossíntese , Células Dendríticas/patologia , Leucemia/etiologia , Leucemia/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Células Dendríticas/química , Feminino , Humanos , Lactente , Leucemia/diagnóstico , Masculino , Pessoa de Meia-Idade
7.
Nat Genet ; 41(1): 106-11, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19043416

RESUMO

Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early differentiation arrest in the myeloid lineage and impaired lymphoid maturation. In addition, affected newborns have bilateral sensorineural deafness. Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. These mutations result in absent or strongly decreased protein expression. We then demonstrate that restoration of AK2 expression in the bone marrow cells of individuals with reticular dysgenesis overcomes the neutrophil differentiation arrest, underlining its specific requirement in the development of a restricted set of hematopoietic lineages. Last, we establish that AK2 is specifically expressed in the stria vascularis region of the inner ear, which provides an explanation of the sensorineural deafness in these individuals. These results identify a previously unknown mechanism involved in regulation of hematopoietic cell differentiation and in one of the most severe human immunodeficiency syndromes.


Assuntos
Adenilato Quinase/deficiência , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/enzimologia , Sistema Hematopoético/patologia , Isoenzimas/deficiência , Adenilato Quinase/genética , Adenilato Quinase/metabolismo , Animais , Diferenciação Celular , Linhagem Celular , Orelha Interna/enzimologia , Orelha Interna/patologia , Feminino , Regulação Enzimológica da Expressão Gênica , Perda Auditiva Neurossensorial/genética , Humanos , Recém-Nascido , Isoenzimas/genética , Isoenzimas/metabolismo , Masculino , Camundongos , Mutação/genética , Neutrófilos/patologia , Linhagem , Transporte Proteico , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/enzimologia , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/imunologia
8.
Br J Haematol ; 138(4): 487-501, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17659053

RESUMO

Primary effusion lymphoma (PEL) is a rare, distinct subtype of non-Hodgkin lymphoma, which is associated with Kaposi sarcoma-associated herpesvirus (KSHV) infection. Although MYB levels are high in most neoplastic B cells, we found that, unexpectedly, both PEL cells and uncultured PEL patients' samples contained very low levels of MYB mRNA when compared to B-cell leukaemia samples obtained from KSHV(-) patients. These results were further confirmed at the protein level. Both latent viral FLICE inhibitory protein (v-FLIP) and early lytic viral G protein coupled receptor (v-GPCR) KSHV proteins were found to activate nuclear factor (NF)-kappaB and transrepress a MYB promoter reporter construct. In contrast, a dominant negative inhibitor of NF-kappaB (IkappaB-alpha) mutant prevented v-FLIP and v-GPCR from inhibiting MYB functions while a v-GPCR mutant that was impaired for NF-kappaB activation could not repress the MYB construct. Transduction of a v-FLIP expressing vector or stable transfection of v-GPCR both resulted in a marked downregulation of the endogenous MYB protein expression. However, MYB expression transactivated the lytic switch Replication and Transcription Activator (RTA) promoter in transient transfection assays. Taken together, our results demonstrate that, contrary to a number of other haematological malignancies, MYB expression is not required for PEL cell proliferation. Repressing MYB expression also helps in maintaining the virus in latency.


Assuntos
Regulação Viral da Expressão Gênica , Genes myb , Herpesvirus Humano 8/fisiologia , Linfoma Relacionado a AIDS/virologia , Linfoma não Hodgkin/virologia , Sarcoma de Kaposi/virologia , Proteína Reguladora de Apoptosis Semelhante a CASP8 e FADD/metabolismo , Linhagem Celular Tumoral , Transformação Celular Viral , Expressão Gênica , Humanos , Proteínas Imediatamente Precoces/metabolismo , Linfoma Relacionado a AIDS/metabolismo , Linfoma não Hodgkin/metabolismo , NF-kappa B/metabolismo , Proteínas Proto-Oncogênicas c-myb/análise , Receptores Acoplados a Proteínas G/metabolismo , Sarcoma de Kaposi/metabolismo , Transativadores/metabolismo , Transcrição Gênica , Transdução Genética , Transfecção , Proteínas Virais/metabolismo , Ativação Viral , Latência Viral
9.
Blood ; 105(1): 74-6, 2005 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-15353484

RESUMO

Hepatitis C virus (HCV) has been associated with the development of B-cell non-Hodgkin lymphomas. We recently reported the regression of splenic lymphoma with villous lymphocytes (SLVL) in patients with HCV after antiviral treatment, demonstrating a direct role of HCV in lymphomagenesis. This study expands our previous results in 18 patients with chronic HCV and SLVL. Mixed cryoglobulinemia (MC) was present in all cases and was symptomatic in 13 (72%). All patients were treated with interferon alone or in association with ribavirin. Hematologic and virologic responses were correlated. Fourteen (78%) patients achieved a sustained complete hematologic response after clearance of HCV RNA. Two patients had a virologic partial response and achieved a complete hematologic response. Two virologic nonresponders achieved partial hematologic response. Regardless of the response, monoclonal immunoglobulin gene rearrangement persisted after treatment. This study underscores the role of HCV in the lymphomagenesis and the benefit of antiviral treatment for patients presenting with HCV-driven lymphoproliferations.


Assuntos
Crioglobulinemia/complicações , Hepatite C/complicações , Linfócitos/patologia , Linfoma/complicações , Linfoma/patologia , Neoplasias Esplênicas/complicações , Neoplasias Esplênicas/patologia , Crioglobulinemia/tratamento farmacológico , Crioglobulinemia/virologia , Feminino , Hepacivirus/genética , Hepacivirus/fisiologia , Hepatite C/tratamento farmacológico , Hepatite C/virologia , Humanos , Linfoma/tratamento farmacológico , Linfoma/virologia , Masculino , Pessoa de Meia-Idade , Neoplasias Esplênicas/tratamento farmacológico , Neoplasias Esplênicas/virologia , Resultado do Tratamento
10.
Am J Hematol ; 76(2): 187-9, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15164389

RESUMO

A 55-year-old Caribbean woman with a 6-year history of smoldering adult T-cell leukemia/lymphoma presented with clinical and biological symptoms of hemophagocytic syndrome. An extensive search for infectious diseases was negative. A lymph node biopsy showing large T-cell lymphoma (CD4-, CD25+) and findings of high LDH count and severe lymphocytosis led to the diagnosis of acute adult T-cell leukemia/lymphoma. Anti-retroviral therapy combining zidovudine, lamivudine, and interferon-alpha was started, resulting in rapid control of both hemophagocytic syndrome and symptoms of acute adult T-cell leukemia/lymphoma. Thus, we propose that adult T-cell leukemia/lymphoma must be added to the spectrum of etiologies of hemophagocytic syndrome.


Assuntos
Antivirais/uso terapêutico , Histiocitose/etiologia , Interferon-alfa/uso terapêutico , Leucemia-Linfoma de Células T do Adulto/tratamento farmacológico , Leucemia-Linfoma de Células T do Adulto/patologia , Antineoplásicos/uso terapêutico , Quimioterapia Combinada , Feminino , Humanos , Lamivudina/uso terapêutico , Pessoa de Meia-Idade , Zidovudina/uso terapêutico
11.
Blood ; 101(7): 2693-703, 2003 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-12446444

RESUMO

T-acute lymphoblastic leukemias (T-ALLs) derive from human T-lymphoid precursors arrested at various early stages of development. Correlation of phenotype and T-cell receptor (TCR) status with RAG-1 and pT alpha transcription in 114 T-ALLs demonstrated that they largely reflect physiologic T-lymphoid development. Half the TCR alpha beta lineage T-ALLs expressed a pre-TCR, as evidenced by RAG-1, pT alpha, and cTCR beta expression, absence of TCR delta deletion, and a sCD3(-), CD1a(+), CD4/8 double-positive (DP) phenotype, in keeping with a population undergoing beta selection. Most TCR gamma delta T-ALLs were pT alpha, terminal deoxynucleotidyl transferase (TdT), and RAG-1(lo/neg), double-negative/single-positive (DN/SP), and demonstrated only TCR beta DJ rearrangement, whereas 40% were pT alpha, TdT, and RAG-1 positive, DP, and demonstrated TCR beta V(D)J rearrangement, with cTCR beta expression in proportion. As such they may correspond to TCR alpha beta lineage precursors selected by TCR gamma delta expression, to early gamma delta cells recently derived from a pT alpha(+) common alpha beta/gamma delta precursor, or to a lineage-deregulated alpha beta/gamma delta intermediate. Approximately 30% of T-ALLs were sCD3/cTCR beta(-) and corresponded to nonrestricted thymic precursors because they expressed non-T-restricted markers such as CD34, CD13, CD33, and CD56 and were predominantly DN, CD1a, pT alpha, and RAG-1 low/negative, despite immature TCR delta and TCR gamma rearrangements. TCR gene configuration identified progressive T-lymphoid restriction. T-ALLs, therefore, provide homogeneous expansions of minor human lymphoid precursor populations that can aid in the understanding of healthy human T-cell development.


Assuntos
Proteínas de Homeodomínio/genética , Leucemia-Linfoma de Células T do Adulto/patologia , Glicoproteínas de Membrana/genética , Receptores de Antígenos de Linfócitos T/classificação , Linfócitos T/citologia , Adolescente , Adulto , Idoso , Antígenos CD/análise , Linhagem da Célula , Criança , Genótipo , Humanos , Imunofenotipagem , Leucemia-Linfoma de Células T do Adulto/classificação , Leucemia-Linfoma de Células T do Adulto/imunologia , Masculino , Pessoa de Meia-Idade , RNA Mensageiro/análise , Receptores de Antígenos de Linfócitos T alfa-beta , Receptores de Antígenos de Linfócitos T gama-delta
12.
Genes Chromosomes Cancer ; 33(1): 22-8, 2002 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11746984

RESUMO

Translocation t(1;22)(p13;q13) is associated with a peculiar subtype of acute megakaryocytic leukemia (M7) occurring in infants. We have recently characterized a fusion gene, OTT-MAL, resulting from this translocation. We now report three additional cases and show that this gene fusion is present in all five t(1;22) cases studied to date. Nucleotide sequence analysis of two translocation breakpoints suggests a nonhomologous end joining mechanism in the genesis of this translocation and reveals a noncanonical topoisomerase II-like consensus sequence within the OTT gene. FISH and PCR techniques described in this work are useful for identifying t(1;22) associated with M7.


Assuntos
Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 22/genética , Leucemia Megacarioblástica Aguda/genética , Proteínas/genética , Proteínas de Ligação a RNA , Translocação Genética/genética , Sequência de Aminoácidos , Sequência de Bases , Coloração Cromossômica , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Leucemia Megacarioblástica Aguda/diagnóstico , Masculino , Dados de Sequência Molecular , Proteínas de Fusão Oncogênica/genética
13.
Blood ; 99(5): 1556-63, 2002 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-11861268

RESUMO

CD4(+)CD56(+) malignancies are rare hematologic neoplasms, which were recently shown to correspond to the so-called type 2 dendritic cell (DC2) or plasmacytoid dendritic cells. This study presents the biologic and clinical features of a series of 23 such cases, selected on the minimal immunophenotypic criteria defining the DC2 leukemic counterpart, that is, coexpression of CD4 and CD56 in the absence of B, T, and myeloid lineage markers. Clinical presentation typically corresponded to cutaneous nodules associated with lymphadenopathy or spleen enlargement or both. Cytopenia was frequent. Circulating malignant cells were often detected. Massive bone marrow infiltration was seen in 20 of 23 (87%) patients. Most tumor cells exhibited nuclei with a lacy chromatin, a blastic aspect, large cytoplasm-containing vacuoles or microvacuoles beside the plasma membrane, and cytoplasmic expansions resembling pseudopodia. Other immunophenotypic characteristics included both negative (CD16, CD57, CD116, and CD117) and positive (CD36, CD38, CD45 at low levels, CD45RA, CD68, CD123, and HLA DR) markers. The prognosis was rapidly fatal in the absence of chemotherapy. Complete remission was obtained in 18 of 23 (78%) patients after polychemotherapy. Most patients had a relapse in less than 2 years, mainly in the bone marrow, skin, or central nervous system. Considering these clinical and biologic features, the conclusion is made that CD4(+)CD56(+) malignancies constitute a genuine homogeneous entity. Furthermore, some therapeutic options were clearly identified. Finally, relationships between the pure cutaneous indolent form of the disease and acute leukemia as well as with the lymphoid/myeloid origin of the CD4(+)CD56(+) malignant cell are discussed.


Assuntos
Antígenos CD4/imunologia , Antígeno CD56/imunologia , Neoplasias Hematológicas/classificação , Neoplasias Hematológicas/imunologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antígenos de Neoplasias/análise , Antígenos de Neoplasias/imunologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Antígenos CD4/análise , Antígeno CD56/análise , Criança , Pré-Escolar , Células Dendríticas/imunologia , Células Dendríticas/patologia , Feminino , Seguimentos , Neoplasias Hematológicas/patologia , Humanos , Imunofenotipagem , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica/imunologia , Células Neoplásicas Circulantes/imunologia , Neoplasias Cutâneas/classificação , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/patologia , Resultado do Tratamento
14.
Blood ; 101(4): 1277-83, 2003 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-12393381

RESUMO

Mutations of the AML1 gene are frequent molecular abnormalities in minimally differentiated acute myeloblastic leukemia (M0 AML), a rare type of AML. In this retrospective multicenter study, morphologic, immunophenotypical, cytogenetic, and molecular features of 59 de novo M0 AML cases were analyzed and correlated to AML1 mutations. Point mutations of AML1 gene were observed in 16 cases (27%). They were correlated with higher white blood cell (WBC) count (P =.001), greater marrow blast involvement (P =.03), higher incidence of immunoglobulin H/T-cell receptor (IgH/TCR) gene rearrangement (P <.0001), and with a borderline significant lower incidence of complex karyotypes. In the 59 patients, FLT3 mutations were the only significant prognostic factors associated with short survival.


Assuntos
Proteínas de Ligação a DNA/genética , Leucemia Mieloide Aguda/genética , Mutação Puntual , Fatores de Transcrição/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Medula Óssea/patologia , Subunidade alfa 2 de Fator de Ligação ao Core , Rearranjo Gênico do Linfócito T , Humanos , Cadeias Pesadas de Imunoglobulinas/genética , Imunofenotipagem , Hibridização in Situ Fluorescente , Leucemia Mieloide Aguda/imunologia , Leucemia Mieloide Aguda/patologia , Contagem de Leucócitos , Pessoa de Meia-Idade , Prognóstico , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética , Receptores de Antígenos de Linfócitos T/genética , Estudos Retrospectivos , Taxa de Sobrevida , Tirosina Quinase 3 Semelhante a fms
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