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1.
Skeletal Radiol ; 43(9): 1333-6, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24733362

RESUMEN

We report a case of hyperplastic callus mimicking osteosarcoma in the fibula of a patient with osteogenesis imperfecta type V. Among the various imaging modalities, computed tomography was the most useful in distinguishing this rare process from a malignant entity. In addition, simple radiographs demonstrated the presence of characteristic "zebra lines", a manifestation of cyclic bisphosphonate therapy during childhood.


Asunto(s)
Difosfonatos/efectos adversos , Peroné/diagnóstico por imagen , Hiperostosis/inducido químicamente , Hiperostosis/diagnóstico por imagen , Osteogénesis Imperfecta/inducido químicamente , Osteogénesis Imperfecta/diagnóstico , Tomografía Computarizada por Rayos X/métodos , Adulto , Conservadores de la Densidad Ósea/efectos adversos , Callo Óseo/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Peroné/patología , Humanos , Osteosarcoma/diagnóstico
2.
Clin Cancer Res ; 14(4): 977-83, 2008 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-18281529

RESUMEN

PURPOSE: The ETV6 gene has been reported to be fused to a multitude of partner genes in various hematologic malignancies with 12p13 aberrations. Cytogenetic analysis of six cases of childhood acute lymphoblastic leukemia revealed a novel recurrent t(8;12)(q13;p13), suggesting involvement of ETV6. EXPERIMENTAL DESIGN: Fluorescence in situ hybridization was used to confirm the involvement of ETV6 in the t(8;12)(q13;p13) and reverse transcription-PCR was used to identify the ETV6 partner gene. Detailed immunologic characterization was done, and owing to their lineage promiscuity, the leukemic blast cells were analyzed for NOTCH1 mutations. RESULTS: We have identified a novel recurrent t(8;12)(q13;p13), which results in a fusion between the transcriptional repressor ETV6 (TEL) and the transcriptional coactivator NCOA2 (TIF2) in six cases of childhood leukemia expressing both T-lymphoid and myeloid antigens. The ETV6-NCOA2 transcript encodes a chimeric protein that consists of the pointed protein interaction motif of ETV6 that is fused to the COOH terminus of NCOA2, including the cyclic AMP-responsive element binding protein-binding protein (CBP) interaction and the AD2 activation domains. The absence of the reciprocal NCOA2-ETV6 transcript in one of the cases suggests that the ETV6-NCOA2 chimeric protein and not the reciprocal NCOA2-ETV6 is responsible for leukemogenesis. In addition, ETV6-NCOA2 leukemia shows a high frequency of heterozygous activating NOTCH1 mutations, which disrupt the heterodimerization or the PEST domains. CONCLUSIONS: The ETV6-NCOA2 fusion may define a novel subgroup of acute leukemia with T-lymphoid and myeloid features, which is associated with a high prevalence of NOTCH1 mutations.


Asunto(s)
Coactivador 2 del Receptor Nuclear/genética , Fusión de Oncogenes/genética , Proteínas de Fusión Oncogénica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proteínas Proto-Oncogénicas c-ets/genética , Proteínas Represoras/genética , Adolescente , Secuencia de Aminoácidos , Secuencia de Bases , Niño , Preescolar , Femenino , Humanos , Inmunofenotipificación , Hibridación Fluorescente in Situ , Masculino , Datos de Secuencia Molecular , Mutación , Leucemia-Linfoma Linfoblástico de Células Precursoras/clasificación , Receptor Notch1/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Proteína ETS de Variante de Translocación 6
4.
Cancer Genet Cytogenet ; 180(1): 51-5, 2008 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-18068534

RESUMEN

Polycythemia vera (PV) is a clonal stem cell disorder characterized by an excessive erythrocyte production. At diagnosis, a normal karyotype is found in < or =80% of cases, but an abnormal karyotype frequently develops with evolution. Trisomy 9 and gains on 9p are some of the most frequent cytogenetic abnormalities, together with trisomy 8 and del(20q) in both PV and idiopathic myelofibrosis. We report the case of a 54-year-old man whose disease was classified as an acute myeloid transformation of PV. Cytogenetic and multicolor fluorescence in situ hybridization (FISH) analysis detected several chromosomal abnormalities that included an amplification of 9p. Complementary FISH analysis established amplification of the 9p22 approximately p24.3 region including several known genes: MLLT3 (alias AF9), JMJD2C (alias GASC1), JAK2, and SMARCA2 (alias BRM). JAK2(V617F) mutation status was quantitatively assessed by allele-specific quantitative polymerase chain reaction. Although crossing points analysis showed JAK2(V617F) mutated alleles at 52%, it is still impossible to describe conclusively the mutational status of the amplified JAK2 gene within the sole homogeneously staining region, because total genomic DNA was extracted for the analysis and not only DNA from cells with the homogeneously staining region. Gains on 9p being among the most common anomalies in PV, amplification of a gene or genes on this region may play a crucial role in the pathogenesis or evolution of PV.


Asunto(s)
Amplificación de Genes , Janus Quinasa 2/genética , Leucemia Mieloide Aguda/genética , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Policitemia Vera/complicaciones , Factores de Transcripción/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 9 , Humanos , Hibridación Fluorescente in Situ , Histona Demetilasas con Dominio de Jumonji , Masculino , Persona de Mediana Edad
5.
Cancer Genet Cytogenet ; 174(2): 151-60, 2007 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-17452258

RESUMEN

The 13q14 deletion is the most frequent abnormality in chronic lymphocytic leukemias/small lymphocytic lymphomas, and this early rearrangement is observed from the start of the disease. The systematic use of a panel of interphase fluorescence in situ hybridization (FISH) may not reveal some probes (targeting chromosomes 11q, 13q, 17p, and chromosome 12) structural abnormalities. In this series, we analyzed metaphases by conventional cytogenetics, followed by interphase and metaphase fluorescence in situ hybridization. We were able to observe 17 cases of 13q translocations with deletions in eight of them. Three distinct regions were involved by translocations in association with or without deletions: a region centromeric to RB1 (13q11 approximately 13), a zone telomeric to D13D25 (13q21 approximately 31), and a 13q14 region deliniated by RB1 and D13S25. In this area, the deletion was variable: RB1 alone (one case), D13S319 approximately D13S25 (five cases), and from RB1 to D13S25 (two cases). The very high frequency of 13q14 loss suggests that these deletions are of pathogenetic importance, but, the importance of the translocations remains to be determined.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 13 , Leucemia Linfocítica Crónica de Células B/genética , Anciano , Bandeo Cromosómico , Rotura Cromosómica , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 5 , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Repeticiones de Microsatélite , Persona de Mediana Edad , Translocación Genética
6.
Cancer Genet Cytogenet ; 179(2): 127-31, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18036399

RESUMEN

Association of a t(9;22)(q34;q11), BCR/ABL-positive, with a dic(19;21)(p13;p13) has been described in acute lymphoblastic leukemia in relapse, raising the question of whether this association is recurrent. Described here are two cases, one of myeloproliferative disease and one of acute lymphoblastic leukemia, both presenting a masked t(9;22) and t(19;21). Chromosomal rearrangements were ascertained by fluorescence in situ hybridization (FISH) using locus-specific probes, multicolor FISH, and bacterial artificial chromosome array. These additional observations suggest a nonrandom association.


Asunto(s)
Linfoma de Burkitt/genética , Cromosomas Humanos Par 19 , Cromosomas Humanos Par 21 , Cromosomas Humanos Par 22 , Cromosomas Humanos Par 9 , Proteínas de Fusión bcr-abl/metabolismo , Trastornos Mieloproliferativos/genética , Translocación Genética , Adolescente , Anciano , Femenino , Humanos , Hibridación Fluorescente in Situ , Masculino
7.
Cancer Genet Cytogenet ; 168(2): 133-45, 2006 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-16843103

RESUMEN

We report a series of 43 consecutive therapy-related myelodysplastic syndromes (t-MDS) or acute myeloid leukemias (t-AML) observed for 6 years. This series consisted of 26 women and 17 men, ages ranging from 9 to 85 years. These cases were classified into three groups according to the primary diagnosis. Conventional cytogenetic and fluorescent in situ hybridization (FISH)/ multiplex FISH (M-FISH) methods were used to analyze cytogenetic characteristics of secondary MDS/AML. The features of chromosomal abnormalities were linked to the nature of the therapy and protocols used. A considerable proportion of recurrent balanced translocations characterized t-AML secondary to therapy. FISH techniques showed that conventional cytogenetics often underestimated associated translocations; some deletions were in fact derivative chromosomes associated with deletions. After treatment for lymphomas and chronic myeloproliferative diseases, there were more complex unbalanced abnormalities than the control group. Compared to other series, recurrent translocations appeared to be more numerous (25%), probably reflecting an evolution of therapeutic modalities.


Asunto(s)
Hibridación Fluorescente in Situ/métodos , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicos/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Amplificación de Genes , Eliminación de Gen , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad , Translocación Genética
8.
Regul Pept ; 111(1-3): 103-9, 2003 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-12609756

RESUMEN

This study was undertaken to confirm the presence of CCK receptor subtypes in calf pancreas and establish their cellular localization. Using specific antibodies against CCKA and CCKB receptors, somatostatin, glucagon and insulin, we were able to confirm by Western blot the presence of both CCK receptor protein subtypes in the calf pancreas as a 80-85-kDa CCKA receptor and 40-45-kDa CCKB receptor. By immunofluorescence, the CCKB receptor colocalizes with the islets' somatostatin delta cells, confirming what was previously shown in other species, as well as on ductal cells. We could not reproduce in the calf its colocalization with glucagon alpha cells as observed in human and rat. Any specific localization of CCKA receptors with our multiple antibodies failed. Our observation that the CCKB receptor subtype is specifically localized on pancreatic delta cells as well as on ductal cells lets us support the hypothesis that in this species, CCK could be involved in somatostatin metabolism as well as hydrelatic secretion; its effect on enzyme secretion would be indirect.


Asunto(s)
Bovinos/metabolismo , Páncreas/metabolismo , Receptores de Colecistoquinina/metabolismo , Animales , Western Blotting , Técnica del Anticuerpo Fluorescente , Glucagón/aislamiento & purificación , Inmunohistoquímica , Insulina/aislamiento & purificación , Islotes Pancreáticos/metabolismo , Queratinas/aislamiento & purificación , Masculino , Páncreas/citología , Receptores de Colecistoquinina/clasificación , Somatostatina/aislamiento & purificación
9.
Cancer Genet Cytogenet ; 134(1): 33-7, 2002 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-11996793

RESUMEN

Interstitial deletion of the long arm of chromosome 5 is a recurrent abnormality, mainly associated with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), and it has been proposed therefore that the deleted region may contain a myeloid tumor suppressor gene. We have recently mapped a human translation termination factor gene, ETF1, to band 5q31 at D5S500, and thus to the smallest commonly deleted segment. We have evaluated ETF1 as a candidate myeloid tumor suppressor gene by analysis of the human acute myeloid leukemia cell line HL60, and of patients suffering from malignant myeloid diseases with cytogenetically-defined abnormalities of chromosome 5. Fluorescence in situ hybridization analysis revealed hemizygous loss of the ETF1 locus in HL60 cells and in four of five leukemic samples, but no inactivating mutations were identified by sequencing of the remaining ETF1 allele.


Asunto(s)
Cromosomas Humanos Par 5/genética , Genes Supresores de Tumor , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicos/genética , Factores de Terminación de Péptidos/genética , Anciano , Anciano de 80 o más Años , Mapeo Cromosómico , Análisis Mutacional de ADN , ADN de Neoplasias/química , ADN de Neoplasias/genética , Femenino , Células HL-60 , Humanos , Hibridación Fluorescente in Situ , Leucemia Mieloide Aguda/patología , Masculino , Mutación , Síndromes Mielodisplásicos/patología
10.
Blood ; 109(8): 3451-61, 2007 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-17170124

RESUMEN

CCAAT enhancer-binding protein (CEBP) transcription factors play pivotal roles in proliferation and differentiation, including suppression of myeloid leukemogenesis. Mutations of CEBPA are found in a subset of acute myeloid leukemia (AML) and in some cases of familial AML. Here, using cytogenetics, fluorescence in situ hybridization (FISH), and molecular cloning, we show that 5 CEBP gene family members are targeted by recurrent IGH chromosomal translocations in BCP-ALL. Ten patients with t(8;14)(q11;q32) involved CEBPD on chromosome 8, and 9 patients with t(14;19)(q32;q13) involved CEBPA, while a further patient involved CEBPG, located 71 kb telomeric of CEBPA in chromosome band 19q13; 4 patients with inv(14)(q11q32)/t(14;14)(q11;q32) involved CEBPE and 3 patients with t(14;20)(q32;q13) involved CEBPB. In 16 patients the translocation breakpoints were cloned using long-distance inverse-polymerase chain reaction (LDI-PCR). With the exception of CEBPD breakpoints, which were scattered within a 43-kb region centromeric of CEBPD, translocation breakpoints were clustered immediately 5' or 3' of the involved CEBP gene. Except in 1 patient with t(14;14)(q11;q32), the involved CEBP genes retained germ-line sequences. Quantitative reverse transcription (RT)-PCR showed overexpression of the translocated CEBP gene. Our findings implicate the CEBP gene family as novel oncogenes in BCP-ALL, and suggest opposing functions of CEBP dysregulation in myeloid and lymphoid leukemogenesis.


Asunto(s)
Linfoma de Burkitt/genética , Proteínas Potenciadoras de Unión a CCAAT/genética , Cromosomas Humanos/genética , Cadenas Pesadas de Inmunoglobulina/genética , Familia de Multigenes/genética , Oncogenes/genética , Translocación Genética , Centrómero/genética , Humanos , Hibridación Fluorescente in Situ , Reacción en Cadena de la Polimerasa , Telómero/genética
11.
Crit Care Med ; 34(1): 127-33, 2006 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-16374166

RESUMEN

OBJECTIVE: The pathophysiology of sepsis-induced myocardial dysfunction is still controversial. Whether microcirculatory hypoperfusion together with capillary leakage can occur in the heart wall also remains a matter of debate. The objective was to evaluate the impact of fluid resuscitation on endotoxin-induced myocardial dysfunction. DESIGN: Adult rats were given intraperitoneal injection of endotoxin (lipopolysaccharide, Escherichia coli, 10 mg/kg) or phosphate-buffered solution, followed up by echocardiography and acetate micro-positron emission tomography scan imaging, together with final hemodynamic, biochemical, and pathologic evaluations up to 48 hrs. SETTING: University laboratory. SUBJECTS: Pathogen-free male Wistar rats (350 g). INTERVENTIONS: Influence of isovolumic fluid infusion type (saline vs. pentastarch) on these variables was assessed in 11 groups of six animals including an unchallenged control one. MEASUREMENTS AND MAIN RESULTS: Endotoxin injection induced a) myocardial dysfunction (decrease of approximately 15-20% in left ventricular ejection fraction); b) ventricular enlargement (approximately 1.5- to 1.7-fold increase in left ventricular systolic volume); c) cardiac output increase (10-15%); d) myocardial hypoperfusion ( approximately 1.5- to 2-fold decrease in acetate k1 constant rate); e) increased oxygen consumption (k2); and f) interstitial wall increase. Endotoxin injection also enhanced levels of arterial lactates and troponin I. Colloid (pentastarch) over crystalloid (saline) fluid resuscitation significantly reversed echocardiographic changes, some positron emission tomography imaging alterations, and lactate and troponin I levels without further enhancing interstitial spaces. CONCLUSION: Endotoxin can induce reversible myocardial alterations with evidence of coronary hypoperfusion and heart wall enlargement/damage, some of which can be prevented by fluid resuscitation. The use of crystalloids is less beneficial than pentastarch.


Asunto(s)
Cardiomiopatías/patología , Cardiomiopatías/terapia , Fluidoterapia/métodos , Disfunción Ventricular Izquierda/diagnóstico por imagen , Animales , Modelos Animales de Enfermedad , Endotoxinas , Pruebas de Función Cardíaca , Hemodinámica/fisiología , Masculino , Perfusión , Permeabilidad , Tomografía de Emisión de Positrones , Probabilidad , Ratas , Ratas Wistar , Valores de Referencia , Resucitación/métodos , Sensibilidad y Especificidad , Disfunción Ventricular Izquierda/fisiopatología
12.
Blood ; 108(10): 3560-3, 2006 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-16873674

RESUMEN

Subtle variation in the expression or function of a small group of transcription factors can drive leukemogenesis. The CEBPA protein is known to regulate the balance between cell proliferation and differentiation during early hematopoietic development and myeloid differentiation. In human myeloid leukemia, CEBPA is frequently inactivated by mutation and indirect and posttranslational mechanisms, in keeping with tumor suppressor properties. We report that CEBPA is activated by juxtaposition to the immunoglobulin gene enhancer upon its rearrangement with the immunoglobulin heavy-chain locus in precursor B-cell acute lymphoblastic leukemia harboring t(14;19)(q32;q13). Overexpression of apparently normal CEBPA RNA or protein was observed in 6 patients. These data indicate that CEBPA may exhibit oncogenic as well as tumor suppressor properties in human leukemogenesis.


Asunto(s)
Proteínas Potenciadoras de Unión a CCAAT/genética , Regulación Neoplásica de la Expresión Génica , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Translocación Genética , Adulto , Anciano , Niño , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 19 , Femenino , Reordenamiento Génico , Genes de Inmunoglobulinas , Humanos , Cadenas Pesadas de Inmunoglobulina/genética , Masculino , Persona de Mediana Edad , Leucemia-Linfoma Linfoblástico de Células Precursoras B/etiología , ARN Neoplásico/análisis
13.
Blood ; 108(13): 4198-201, 2006 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-16926283

RESUMEN

The t(5;14)(q35;q32) chromosomal translocation is specifically observed in up to 20% of childhood T-cell acute lymphoblastic leukemia (T-ALL). It affects the BCL11B/CTIP2 locus on chromosome 14 and the RANBP17-TLX3/HOX11L2 region on chromosome 5. It leads to ectopic activation of TLX3/HOX11L2. To investigate the reasons of the association between t(5;14) and T-ALL, we isolated the translocation breakpoints in 8 t(5;14) patients. Sequence analyses did not involve recombinase activity in the genesis of the translocation. We used DNAse1 hypersensitive experiments to locate transcriptional regulatory elements downstream of BCL11B. By transient transfection experiments, 2 of the 6 regions demonstrated cis-activation properties in T cells and were also effective on the TLX3 promoter. Our data indicate that the basis of the specific association between t(5;14) and T-ALL lies on the juxtaposition of TLX3 to long-range cis-activating regions active during T-cell differentiation.


Asunto(s)
Cromosomas Humanos Par 14/genética , Cromosomas Humanos Par 5/genética , Proteínas de Unión al ADN/genética , Proteínas de Homeodominio/genética , Leucemia-Linfoma de Células T del Adulto/genética , Proteínas de Fusión Oncogénica/genética , Proteínas Oncogénicas/genética , Proteínas Represoras/genética , Translocación Genética , Proteínas Supresoras de Tumor/genética , Diferenciación Celular/genética , Proteínas de Unión al ADN/biosíntesis , Proteínas de Homeodominio/biosíntesis , Humanos , Células Jurkat , Leucemia-Linfoma de Células T del Adulto/metabolismo , Leucemia-Linfoma de Células T del Adulto/patología , Proteínas Oncogénicas/biosíntesis , Proteínas de Fusión Oncogénica/biosíntesis , Regiones Promotoras Genéticas/genética , Proteínas Represoras/biosíntesis , Linfocitos T/metabolismo , Linfocitos T/patología , Transcripción Genética , Proteínas Supresoras de Tumor/biosíntesis
14.
Proc Natl Acad Sci U S A ; 103(9): 3339-44, 2006 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-16492768

RESUMEN

Individuals with Down syndrome (DS) are predisposed to develop acute megakaryoblastic leukemia (AMKL), characterized by expression of truncated GATA1 transcription factor protein (GATA1s) due to somatic mutation. The treatment outcome for DS-AMKL is more favorable than for AMKL in non-DS patients. To gain insight into gene expression differences in AMKL, we compared 24 DS and 39 non-DS AMKL samples. We found that non-DS-AMKL samples cluster in two groups, characterized by differences in expression of HOX/TALE family members. Both of these groups are distinct from DS-AMKL, independent of chromosome 21 gene expression. To explore alterations of the GATA1 transcriptome, we used cross-species comparison with genes regulated by GATA1 expression in murine erythroid precursors. Genes repressed after GATA1 induction in the murine system, most notably GATA-2, MYC, and KIT, show increased expression in DS-AMKL, suggesting that GATA1s fail to repress this class of genes. Only a subset of genes that are up-regulated upon GATA1 induction in the murine system show increased expression in DS-AMKL, including GATA1 and BACH1, a probable negative regulator of megakaryocytic differentiation located on chromosome 21. Surprisingly, expression of the chromosome 21 gene RUNX1, a known regulator of megakaryopoiesis, was not elevated in DS-AMKL. Our results identify relevant signatures for distinct AMKL entities and provide insight into gene expression changes associated with these related leukemias.


Asunto(s)
Perfilación de la Expresión Génica , Leucemia Megacarioblástica Aguda/genética , Cromosomas Humanos Par 21/genética , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Síndrome de Down/genética , Factor de Transcripción GATA1/genética , Regulación Neoplásica de la Expresión Génica/genética , Humanos , Leucemia Megacarioblástica Aguda/clasificación , Familia de Multigenes/genética , Fenotipo , Factores de Transcripción/genética
15.
Dig Dis Sci ; 50(3): 574-80, 2005 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-15810645

RESUMEN

Procoagulant membrane microparticles can be released from activated or apoptotic cells in response to various environmental stimuli. The aim of this study was to investigate the presence of microparticles in Crohn's disease and to assess their variations after infliximab therapy. We compared the levels of circulating microparticles in 38 patients with Crohn's disease, 16 patients with ulcerative colitis, 7 patients with infectious colitis, and 17 control subjects. The evolution of microparticle levels was assessed after infliximab therapy in 13 patients with Crohn's disease. Circulating microparticle levels were elevated in patients with Crohn's disease (9.31+/-0.66 nmol/L phosphatidylserine equivalent [PS Eq]) or infectious colitis (10.71+/-0.92 nmol/L PS Eq) compared to patients with ulcerative colitis (5.75+/-0.59 nmol/L PS Eq) and control subjects (4.06+/-0.37 nmol/L PS Eq) (P = 0.001). Infliximab induced a significant diminution of the amounts of circulating microparticles, from 10.33+/-1.20 to 6.45+/-0.90 nmol/L PS Eq (P = 0.002). Generation of circulating microparticles occurs in Crohn's disease; infliximab induces significant diminution. Release of microparticles could be linked to the type of inflammatory response underlying Crohn's disease.


Asunto(s)
Anticuerpos Monoclonales/administración & dosificación , Biomarcadores/sangre , Colitis Ulcerosa/tratamiento farmacológico , Enfermedad de Crohn/sangre , Enfermedad de Crohn/tratamiento farmacológico , Adolescente , Adulto , Anciano , Apoptosis , Estudios de Casos y Controles , Estudios de Cohortes , Colitis/sangre , Colitis/diagnóstico , Colitis/tratamiento farmacológico , Colitis Ulcerosa/sangre , Colitis Ulcerosa/diagnóstico , Enfermedad de Crohn/diagnóstico , Femenino , Humanos , Infliximab , Masculino , Persona de Mediana Edad , Tamaño de la Partícula , Pronóstico , Sensibilidad y Especificidad , Tromboplastina
16.
Blood ; 100(2): 618-26, 2002 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-12091356

RESUMEN

To draw the cytogenetic profile of childhood and adult acute megakaryoblastic leukemia (M7), the Groupe Français de Cytogénétique Hématologique collected 53 cases of M7 (30 children and 23 adults). Compared to other acute myeloid leukemias, M7 is characterized by a higher incidence of abnormalities, a higher complexity of karyotypes, and a different distribution of abnormalities among children and adults. Nine cytogenetic groups were identified: normal karyotypes (group 1), patients with Down syndrome (group 2), numerical abnormalities only (group 3), t(1;22)(p13;q13) or OTT-MAL transcript (group 4), t(9;22)(q34;q11) (group 5), 3q21q26 (group 6), -5/del(5q) or -7/del(7q) or both (group 7), i(12)(p10) (group 8), and other structural changes (group 9). Groups 1, 2, 3, and 4 were exclusively composed of children (except one adult in group 3), whereas groups 5, 6, 7, and 8 were mainly made up of adults. The main clinical and hematologic features of these groups were described. No new recurrent abnormality was identified, but mapping of all breakpoints allowed us to specify several possible hot spots of rearrangement: 17q22-23, 11q14-21, 21q21-22, and 16q21-22-23. Although 90.5% of cases had no documented antecedent hematologic disorder or exposure to chemotherapy or radiotherapy, the morphologic and the cytogenetic findings indicated that M7 might be a secondary leukemia more often than suggested by preceding history, particularly among adults. The concurrent analyses of morphologic and cytogenetic data also led us to assume that the initial precursor involved might be more immature in adult than in childhood M7.


Asunto(s)
Análisis Citogenético , Leucemia Megacarioblástica Aguda/genética , Adulto , Anciano , Niño , Preescolar , Aberraciones Cromosómicas , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 16 , Cromosomas Humanos Par 17 , Cromosomas Humanos Par 21 , Femenino , Humanos , Inmunofenotipificación , Lactante , Leucemia Megacarioblástica Aguda/inmunología , Leucemia Megacarioblástica Aguda/patología , Masculino , Persona de Mediana Edad , Neoplasias Primarias Secundarias , Estudios Retrospectivos
17.
Blood ; 103(2): 442-50, 2004 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-14504110

RESUMEN

In a series of 153 children with T-cell malignancies enrolled in 2 consecutive European Organization for Research and Treatment of Cancer (EORTC) trials, we assessed the HOX11L2 expression and/or the presence of a t(5;14)(q35;q32). Additionally, in 138 of these patients, HOX11 expression and SIL-TAL rearrangement were also assessed. These alterations were mutually exclusive, and their frequency was 23% (n = 35), 7% (n = 10), and 12% (n = 17), respectively. HOX11L2/t(5;14) positivity was more frequent in acute lymphoblastic leukemia (ALL) with cortical T immunophenotype and in children aged between 6 and 9 years. In contrast with previously reported data, patients positive and negative for HOX11L2/t(5;14) were comparable with regard to clinical outcome as well as to the response to a 7-day prephase treatment or to residual disease at completion of induction therapy. The 3-year event-free survival (EFS) rate (+/- SE percentage) for patients positive and negative for HOX11L2/t(5;14) was 75.5% (+/- 8.1%) and 68.3% (+/- 5.0%), respectively; the hazard ratio was 0.84 (95% confidence interval, 0.40-1.80). Patients with HOX11-high expression and those with SIL-TAL fusion had low levels of residual disease at the end of induction and a favorable prognosis: the 3-year EFS rate was 83.3% (+/- 8.5%) and 75.3% (+/- 12.6%), respectively. The results obtained in HOX11L2/t(5;14) patients in this study do not confirm the unfavorable prognosis reported in previous studies.


Asunto(s)
Cromosomas Humanos Par 14 , Cromosomas Humanos Par 5 , Proteínas de Homeodominio/genética , Leucemia de Células T/genética , Proteínas de Fusión Oncogénica , Proteínas Oncogénicas/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proteínas/genética , Translocación Genética , Adolescente , Niño , Preescolar , Mapeo Cromosómico , Supervivencia sin Enfermedad , Femenino , Humanos , Lactante , Péptidos y Proteínas de Señalización Intracelular , Leucemia de Células T/mortalidad , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidad , Proteínas Proto-Oncogénicas , Estudios Retrospectivos , Análisis de Supervivencia
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