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[PMID]: 22931642 [Au] Autor: Wang YX; Zhang JH; Hu YP; Cao FF; Zhang N; Chen F; Liu X; Zhang MY [Ad] Dirección: China Medical University, Shenyang, Liaoning Province, China. [Ti] Título: [Significance and application value of multiparameter flow cytometry for differentiation of immunophenotype in chronic myelomonocytic leukemia, myelodysplastic syndrome and acute monocytic leukemia]. [So] Fuente: Zhongguo Shi Yan Xue Ye Xue Za Zhi;20(4):857-62, 2012 Aug. [Is] ISSN: 1009-2137 [Cp] País de publicación: China [La] Idioma: chi [Ab] Resumen: This study was purposed to analyse the immunophenotypic characteristics of chronic myelomonocytic leukemia (CMML), myelodysplastic syndromes (MDS) and acute monocytic leukemia (AML-M5b) by using multiparameter flow cytometry, and to explore its significance in diagnosis and differential diagnosis. The immunophenotypic characteristics of bone marrow samples from 14 CMML patients, 48 MDS patients, 46 AML-M5b patients and 18 normal persons were analyzed and compared by multiparametric flow cytometry. The results showed that the ratio of monocytes in CMML patients was obviously higher than that in MDS, AML-M5b patients and normal persons (P < 0.05), but there was no statistically significant difference between bone marrow samples of MDS and AML-M5b patients as well as normal persons. The ratio of blast cells in MDS patients was obviously higher than that in normal persons (P < 0.05), but did not show significant difference as compared with CMML patients. The ratio of mature granulocytes in AML-M5b patients was obviously lower than that in CMML and MDS patients as well as normal person bone marrow (P < 0.05). Certain differences of CD45/SSC characteristics in MDS, AML-M5b and CMML patients were found in comparison with normal persons. The abnormal expression of CD2, CD56, and CD14 tailing phenomenon were observed in CMML patients in comparison with bone marrow samples of MDS, AML-M5b and normal persons (P < 0.05). Lack and decrease of CD15 expression in MDS and CMML patients was significant different from AML-M5b and normal persons marrow, abnormal expression rate of CD15 in CMML patients was higher than that in MDS patients (P < 0.05), the CD13/CD11b/CD16 abnormal expression of granulocytes was seen in both CMML and MDS patients, but there was no statistically significant difference between them. Other antigens showed abnormality of varying degrees, but did not have any statistical significance. It is concluded that MDS, CMML and AML-M5b displayed a certain degree of similarity, and also possess their own immunophenotype characteristics. Comprehensive analysis of immunophenotype by multiparameter flow cytometry may be important for differential diagnosis among CMML, MDS and AML-M5b. High percentage of monocytes, abnormal coexpression of CD2, CD56 and CD14 tailing phenomenon, lack or decrease of CD15 as well as abnormal expression of CD13/CD11b/CD16 in granulocytes may play important roles in diagnosis of CMML. [Mh] Términos MeSH primario: Citometría de Flujo/métodos Leucemia Monocítica Aguda/diagnóstico Leucemia Mielomonocítica Crónica/diagnóstico Síndromes Mielodisplásicos/diagnóstico [Mh] Términos MeSH secundario: Estudios de Casos y Controles Humanos Inmunofenotipificación/métodos Leucemia Monocítica Aguda/inmunología Leucemia Mielomonocítica Crónica/inmunología Síndromes Mielodisplásicos/inmunología [Pt] Tipo de publicación: ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S. [Em] Mes de ingreso: 1305 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120830 [St] Status: MEDLINE

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[PMID]: 22480363 [Au] Autor: Yoshida N; Doisaki S; Kojima S [Ad] Dirección: Department of Hematology and Oncology, Childrens Medical Center, Japanese Red Cross Nagoya First Hospital, Nagoya, Japan. [Ti] Título: Current management of juvenile myelomonocytic leukemia and the impact of RAS mutations. [So] Fuente: Paediatr Drugs;14(3):157-63, 2012 Jun 1. [Is] ISSN: 1179-2019 [Cp] País de publicación: New Zealand [La] Idioma: eng [Ab] Resumen: Juvenile myelomonocytic leukemia (JMML) is a rare clonal myelodysplastic/myeloproliferative disorder that affects young children. It is characterized by hypersensitivity of JMML cells to granulocyte-macrophage colony-stimulating factor (GM-CSF) in vitro. The pathogenesis of JMML seems to arise from constitutional activation of the GM-CSF/RAS (a GTPase) signaling pathway, a result of mutations in RAS, NF1, PTPN11, and CBL that interfere with downstream components of the pathway. Most patients with JMML usually experience an aggressive clinical course, and hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment, although the high rates of relapses and graft failures are of great concern. In contrast, a certain proportion of patients experience a stable clinical course for a considerable period of time, and sometimes the disease even spontaneously resolves without any treatment. Recent studies have provided us with increased knowledge of genotype-phenotype correlations in JMML, and suggested that differences in clinical courses may reflect genetic status. Thus, genotype-based management is of current international interest, especially for JMML with RAS mutations. Cumulative evidence suggests that RAS mutations can be related to favorable clinical outcomes, and HSCT may not have to be a mandatory therapeutic option for a portion of patients with this mutation, although a consensus regarding genotype-based management has not yet been achieved. Further efforts toward identifying which patients who will do well without HSCT are required. [Mh] Términos MeSH primario: Genes ras/genética Trasplante de Células Madre Hematopoyéticas/métodos Leucemia Mielomonocítica Juvenil/genética Mutación/genética Enfermedades Raras/genética [Mh] Términos MeSH secundario: Síndrome Linfoproliferativo Autoinmune/genética Niño Preescolar Genotipo Factor Estimulante de Colonias de Granulocitos y Macrófagos/farmacología Humanos Leucemia Mielomonocítica Juvenil/terapia Neurofibromina 1/genética Fenotipo Proteínas Proto-Oncogénicas p21(ras)/genética Enfermedades Raras/terapia Transducción de Señal/genética [Pt] Tipo de publicación: JOURNAL ARTICLE; REVIEW [Nm] Nombre de substancia: 0 (Neurofibromin 1); 83869-56-1 (Granulocyte-Macrophage Colony-Stimulating Factor); EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras)) [Em] Mes de ingreso: 1305 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 120413 [St] Status: MEDLINE [do] DOI: 10.2165/11631360-000000000-00000

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[PMID]: 23336938 [Au] Autor: Voso MT; Breccia M; Lunghi M; Poloni A; Niscola P; Finelli C; Bari A; Musto P; Zambello R; Fianchi L; Alimena G; Leone G [Ad] Dirección: Department of Hematology, Universitá Cattolica S. Cuore, Rome, Italy. mtvoso@rm.unicatt.it [Ti] Título: Rapid loss of response after withdrawal of treatment with azacitidine: a case series in patients with higher-risk myelodysplastic syndromes or chronic myelomonocytic leukemia. [So] Fuente: Eur J Haematol;90(4):345-8, 2013 Apr. [Is] ISSN: 1600-0609 [Cp] País de publicación: England [La] Idioma: eng [Ab] Resumen: In patients with myelodysplastic syndromes (MDS), the likelihood of having a sustained response to azacitidine is increased by maximizing treatment duration. This is important as prognosis postrelapse is poor. There is also the concern that early termination of treatment may result in rapid disease progression. We reviewed outcomes in 13 patients who discontinued azacitidine (decitabine in one patient) while still responding to the treatment. Most patients rapidly relapsed; median time to progression was 5.4 months. Reasons for treatment discontinuation included comorbidities, infections, and patient choice. These findings illustrate the risk of prematurely terminating azacitidine therapy in MDS. [Mh] Términos MeSH primario: Antimetabolitos Antineoplásicos/administración & dosificación Azacitidina/administración & dosificación Leucemia Mielomonocítica Crónica/quimioterapia Síndromes Mielodisplásicos/quimioterapia [Mh] Términos MeSH secundario: Adulto Anciano Anciano de 80 o más Años Antimetabolitos Antineoplásicos/efectos adversos Azacitidina/efectos adversos Progresión de la Enfermedad Femenino Humanos Estimación de Kaplan-Meier Masculino Mediana Edad Pronóstico Recurrencia Estudios Retrospectivos [Pt] Tipo de publicación: CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nombre de substancia: 0 (Antimetabolites, Antineoplastic); 320-67-2 (Azacitidine) [Em] Mes de ingreso: 1305 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 130315 [St] Status: MEDLINE [do] DOI: 10.1111/ejh.12079

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[PMID]: 22748922 [Au] Autor: Sakaguchi H; Makishima H; Muramatsu H; Visconte V; Jerez A; Jankowska AM; Tiu RV; Maciejewski JP; Kojima S [Ti] Título: Mutational analysis of RNA splicing machinery components in 206 children with myeloid malignancies. [So] Fuente: Leuk Res;36(12):e215-7, 2012 Dec. [Is] ISSN: 1873-5835 [Cp] País de publicación: England [La] Idioma: eng [Mh] Términos MeSH primario: Leucemia Mieloide Aguda/genética Leucemia Mielomonocítica Crónica/genética Leucemia Mielomonocítica Juvenil/genética Mutación Síndromes Mielodisplásicos/genética Proteínas de Neoplasias/genética Empalme del ARN [Mh] Términos MeSH secundario: Adolescente Niño Preescolar Análisis Mutacional de ADN Exoma Humanos Lactante Recién Nacido [Pt] Tipo de publicación: LETTER [Nm] Nombre de substancia: 0 (Neoplasm Proteins) [Em] Mes de ingreso: 1301 [Cu] Fecha actualización por clase: 130501 [Lr] Fecha última revisión: 130501 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 121105 [St] Status: MEDLINE

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[PMID]: 23262795 [Au] Autor: Yi JH; Huh J; Kim HJ; Kim SH; Kim SH; Kim KH; Do YR; Mun YC; Kim H; Kim MK; Kim HJ; Kim T; Kim DD [Ad] Dirección: Division of Hematology/Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong 50, Gangnam-gu, Seoul, 135-710, South Korea. [Ti] Título: Genome-wide single-nucleotide polymorphism array-based karyotyping in myelodysplastic syndrome and chronic myelomonocytic leukemia and its impact on treatment outcomes following decitabine treatment. [So] Fuente: Ann Hematol;92(4):459-69, 2013 Apr. [Is] ISSN: 1432-0584 [Cp] País de publicación: Germany [La] Idioma: eng [Ab] Resumen: Decitabine is a hypomethylating agent with proven clinical efficacy in myelodysplastic syndrome (MDS). The current study analyzed the role of single nucleotide polymorphism array (SNP-A)-based karyotyping in prediction of clinical outcome in MDS or chronic myelomonocytic leukemia (CMML) patients following decitabine therapy. A total of 61 MDS/CMML patients treated with decitabine were evaluated with Genome-Wide Human SNP 6.0 Array using DNAs derived from marrow samples. The primary endpoint was the best response rate including complete (CR) and partial response (PR) with overall (OS) and event-free survival (EFS) as secondary endpoints. Best response was noted in 14 patients (26.4 %) out of 53 evaluated patients including 12 CR and two PR with median follow-up of 21.6 months. A total of 81 abnormal SNP lesions were found in 25 out of 61 patients (41.0 %). The patients carrying abnormal SNP lesions showed an inferior CR/PR rate (p = 0.002) and showed a trend of worse OS (p = 0.02 in univariate, p = 0.09 in multivariate) compared to those without SNP lesions, but not were associated with inferior EFS. The presence of abnormal SNP lesions in MDS was associated with adverse outcomes following decitabine therapy. Further study is strongly warranted to establish the role of SNP-A karyotyping in MDS. [Mh] Términos MeSH primario: Azacitidina/análogos & derivados Cariotipificación/métodos Leucemia Mielomonocítica Crónica/quimioterapia Leucemia Mielomonocítica Crónica/genética Síndromes Mielodisplásicos/quimioterapia Síndromes Mielodisplásicos/genética Polimorfismo de Nucleótido Simple [Mh] Términos MeSH secundario: Adulto Anciano Anciano de 80 o más Años Antimetabolitos Antineoplásicos/uso terapéutico Azacitidina/uso terapéutico Mapeo Cromosómico/métodos Resistencia a Antineoplásicos/genética Femenino Genoma Humano/genética Humanos Leucemia Mielomonocítica Crónica/diagnóstico Leucemia Mielomonocítica Crónica/mortalidad Masculino Análisis de Micromatrices/métodos Mediana Edad Síndromes Mielodisplásicos/diagnóstico Síndromes Mielodisplásicos/mortalidad Polimorfismo de Nucleótido Simple/genética Polimorfismo de Nucleótido Simple/fisiología Pronóstico Resultado del Tratamiento [Pt] Tipo de publicación: EVALUATION STUDIES; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nombre de substancia: 0 (Antimetabolites, Antineoplastic); 2353-33-5 (decitabine); 320-67-2 (Azacitidine) [Em] Mes de ingreso: 1304 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 130307 [St] Status: MEDLINE [do] DOI: 10.1007/s00277-012-1635-7

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[PMID]: 23134356 [Au] Autor: Callahan MK; Rampal R; Harding JJ; Klimek VM; Chung YR; Merghoub T; Wolchok JD; Solit DB; Rosen N; Abdel-Wahab O; Levine RL; Chapman PB [Ad] Dirección: Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA. [Ti] Título: Progression of RAS-mutant leukemia during RAF inhibitor treatment. [So] Fuente: N Engl J Med;367(24):2316-21, 2012 Dec 13. [Is] ISSN: 1533-4406 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: Vemurafenib, a selective RAF inhibitor, extends survival among patients with BRAF V600E-mutant melanoma. Vemurafenib inhibits ERK signaling in BRAF V600E-mutant cells but activates ERK signaling in BRAF wild-type cells. This paradoxical activation of ERK signaling is the mechanistic basis for the development of RAS-mutant squamous-cell skin cancers in patients treated with RAF inhibitors. We report the accelerated growth of a previously unsuspected RAS-mutant leukemia in a patient with melanoma who was receiving vemurafenib. Exposure to vemurafenib induced hyperactivation of ERK signaling and proliferation of the leukemic cell population, an effect that was reversed on drug withdrawal. [Mh] Términos MeSH primario: Genes ras Indoles/efectos adversos Leucemia Mielomonocítica Crónica/genética Melanoma/genética Inhibidores de las Proteína Quinasas/efectos adversos Proteinas Proto-Oncogénicas B-raf/antagonistas & inhibidores Sulfonamidas/efectos adversos [Mh] Términos MeSH secundario: Anciano Proliferación de la Célula/efectos de drogas Progresión de la Enfermedad Humanos Indoles/uso terapéutico Leucemia Mielomonocítica Crónica/inducido químicamente Recuento de Leucocitos Masculino Melanoma/quimioterapia Mutación Inhibidores de las Proteína Quinasas/uso terapéutico Proteinas Proto-Oncogénicas B-raf/genética Sulfonamidas/uso terapéutico [Pt] Tipo de publicación: CASE REPORTS; JOURNAL ARTICLE [Nm] Nombre de substancia: 0 (Indoles); 0 (PLX4032); 0 (Protein Kinase Inhibitors); 0 (Sulfonamides); EC 2.7.11.1 (Proto-Oncogene Proteins B-raf) [Em] Mes de ingreso: 1212 [Cu] Fecha actualización por clase: 130419 [Lr] Fecha última revisión: 130419 [Sb] Subgrupo de revista: AIM; IM [Da] Fecha de ingreso para procesamiento: 121213 [St] Status: MEDLINE [do] DOI: 10.1056/NEJMoa1208958

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[PMID]: 22919025 [Au] Autor: Meggendorfer M; Roller A; Haferlach T; Eder C; Dicker F; Grossmann V; Kohlmann A; Alpermann T; Yoshida K; Ogawa S; Koeffler HP; Kern W; Haferlach C; Schnittger S [Ad] Dirección: MLL Munich Leukemia Laboratory, Munich, Germany. [Ti] Título: SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). [So] Fuente: Blood;120(15):3080-8, 2012 Oct 11. [Is] ISSN: 1528-0020 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: We analyzed the mutational hotspot region of SRSF2 (Pro95) in 275 cases with chronic myelomonocytic leukemia (CMML). In addition, ASXL1, CBL, EZH2, JAK2V617F, KRAS, NRAS, RUNX1, and TET2 mutations were investigated in subcohorts. Mutations in SRSF2 (SRSF2mut) were detected in 47% (129 of 275) of all cases. In detail, 120 cases had a missense mutation at Pro95, leading to a change to Pro95His, Pro95Leu, Pro95Arg, Pro95Ala, or Pro95Thr. In 9 cases, 3 new in/del mutations were observed: 7 cases with a 24-bp deletion, 1 case with a 3-bp duplication, and 1 case with a 24-bp duplication. In silico analyses predicted a damaging character for the protein structure of SRSF2 for all mutations. SRSF2mut was correlated with higher age, less pronounced anemia, and normal karyotype. SRSF2mut and EZH2mut were mutually exclusive, but SRSF2mut was associated with TET2mut. In the total cohort, no effect of SRSF2mut on survival was observed. However, in the RUNX1mut subcohort, SRSF2 Pro95His had a favorable effect on overall survival. This comprehensive mutation analysis found that 93% of all patients with CMML carried at least 1 somatic mutation in 9 recurrently mutated genes. In conclusion, these data show the importance of SRSF2mut as new diagnostic marker in CMML. [Mh] Términos MeSH primario: Leucemia Mielomonocítica Crónica/genética Leucemia Mielomonocítica Crónica/mortalidad Mutación/genética Proteínas Nucleares/genética Ribonucleoproteínas/genética Marcadores Biológicos de Tumor/genética [Mh] Términos MeSH secundario: Adulto Anciano Anciano de 80 o más Años Femenino Humanos Masculino Mediana Edad Pronóstico ARN Mensajero/genética Reacción en Cadena en Tiempo Real de la Polimerasa Reacción en Cadena de la Polimerasa de Transcriptasa Inversa Tasa de Supervivencia Adulto Joven [Pt] Tipo de publicación: JOURNAL ARTICLE [Nm] Nombre de substancia: 0 (Nuclear Proteins); 0 (RNA, Messenger); 0 (Ribonucleoproteins); 0 (Tumor Markers, Biological); 147153-65-9 (SRSF2 protein, human) [Em] Mes de ingreso: 1301 [Cu] Fecha actualización por clase: 130416 [Lr] Fecha última revisión: 130416 [Sb] Subgrupo de revista: AIM; IM [Da] Fecha de ingreso para procesamiento: 121015 [St] Status: MEDLINE [do] DOI: 10.1182/blood-2012-01-404863

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[PMID]: 23440662 [Au] Autor: Wang SA; Hutchinson L; Tang G; Chen SS; Miron PM; Huh YO; Jones DM; Bueso-Ramos C; Verstovsek S; Medeiros LJ; Miranda RN [Ad] Dirección: Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA. swang5@mdanderson.org [Ti] Título: Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease: clinical significance and comparison of chomosomal abnormalities in SM and AHNMD components. [So] Fuente: Am J Hematol;88(3):219-24, 2013 Mar. [Is] ISSN: 1096-8652 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: Some patients with systemic mastocytosis have concurrent hematological neoplasms, designated in the World Health Organization (WHO) classification as systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (SM-AHNMD). In this study, we analyzed 29 patients with SM-AHNMD and compared them to 40 patients with pure SM. The AHNMDs were classified as chronic myelomonocytic leukemia (CMML) (n = 10), myelodysplastic syndrome (MDS) (n = 7), myeloproliferative neoplasms (n = 4), B-cell lymphoma/leukemia/plasma cell neoplasms (n = 7), and acute myeloid leukemia (n = 1). Patients with SM-AHNMD were older, more frequently had constitutional symptoms and hematological abnormalities, less often had skin lesions, and had an inferior overall survival compared with pure SM patients (48 months vs. not-reached, P < 0.001). Karyotypic abnormalities were detected in 9/28 (32%) patients with SM-AHNMD but not in pure SM patients (P < 0.001). Combined imaging/ fluorescence-in-situ hybridization performed in four SM-AHNMD cases revealed shared abnormal signals in mast cells and myeloid cells in two patients with SM-CMML and one patient with SM-MDS, but not in the mast cells of a case SM-associated with chronic lymphocytic leukemia with ATM-deletion. Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001). Our data indicate that the SM-AHNMD category in the WHO classification is heterogeneous, including clonally related and unrelated forms of AHNMD. The presentation, treatment, and outcome of patients with SM-AHNMD is often dictated by the type of AHNMD. [Mh] Términos MeSH primario: Neoplasias Hematológicas/patología Leucemia Mieloide Aguda/patología Leucemia Mielomonocítica Crónica/patología Linfoma de Células B/patología Mastocitos/patología Mastocitosis Sistémica/patología Síndromes Mielodisplásicos/patología [Mh] Términos MeSH secundario: Cariotipo Anormal Adulto Factores de Edad Anciano Linaje de la Célula Células Clonales Análisis Mutacional de ADN Femenino Neoplasias Hematológicas/genética Neoplasias Hematológicas/mortalidad Humanos Leucemia Mieloide Aguda/genética Leucemia Mieloide Aguda/mortalidad Leucemia Mielomonocítica Crónica/genética Leucemia Mielomonocítica Crónica/mortalidad Linfoma de Células B/genética Linfoma de Células B/mortalidad Masculino Mastocitos/metabolismo Mastocitosis Sistémica/clasificación Mastocitosis Sistémica/genética Mastocitosis Sistémica/mortalidad Mediana Edad Mutación Síndromes Mielodisplásicos/genética Síndromes Mielodisplásicos/mortalidad Proteínas Proto-Oncogénicas c-kit/genética Tasa de Supervivencia [Pt] Tipo de publicación: COMPARATIVE STUDY; JOURNAL ARTICLE [Nm] Nombre de substancia: EC 2.7.10.1 (Proto-Oncogene Proteins c-kit) [Em] Mes de ingreso: 1304 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 130226 [St] Status: MEDLINE [do] DOI: 10.1002/ajh.23380

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[PMID]: 23335386 [Au] Autor: Patnaik MM; Lasho TL; Finke CM; Hanson CA; Hodnefield JM; Knudson RA; Ketterling RP; Pardanani A; Tefferi A [Ad] Dirección: Division of Hematology, Mayo Clinic, Rochester, Minnesota 55905, USA. [Ti] Título: Spliceosome mutations involving SRSF2, SF3B1, and U2AF35 in chronic myelomonocytic leukemia: prevalence, clinical correlates, and prognostic relevance. [So] Fuente: Am J Hematol;88(3):201-6, 2013 Mar. [Is] ISSN: 1096-8652 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: SRSF2, SF3B1, and U2AF35 (U2AF1) are the three most frequent genes involved with spliceosome mutations in myeloid malignancies. SF3B1 mutations are most frequent (~80%) in myelodysplastic syndromes (MDS) with ring sideroblasts (RS) but lack prognostic relevance. SRSF2 mutations are associated with shortened overall (OS) and leukemia-free survival (LFS) in both MDS and myelofibrosis. In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R). These mutations were mutually exclusive and 54% of the patients displayed at least one mutation. The three mutation groups were phenotypically similar, with the exception of higher RS% (P < 0.0001) in patients with SF3B1 mutations. At a median follow-up of 15 months, 176 (78%) deaths and 32 (14%) leukemic transformations were documented. OS (median survivals of 17, 16, 17, and 20 months; P = 0.48) and LFS (leukemic transformation rates of 17, 13, 15, and 5%; P = 0.63) were similar among patients with none of the three mutations, SRSF2, SF3B1, or U2AF35 mutations, respectively. We conclude that SRSF2 is the most frequently mutated spliceosome gene in CMML but neither it nor SF3B1 or U2AF35 mutations are prognostically relevant. [Mh] Términos MeSH primario: Leucemia Mielomonocítica Crónica/genética Proteínas Nucleares/genética Fosfoproteínas/genética Polimorfismo de Nucleótido Simple Ribonucleoproteína Nuclear Pequeña U2/genética Ribonucleoproteínas/genética Empalmosomas/genética [Mh] Términos MeSH secundario: Adulto Anciano Anciano de 80 o más Años Transformación Celular Neoplásica/genética Análisis Mutacional de ADN Femenino Humanos Leucemia Mielomonocítica Crónica/patología Masculino Mediana Edad Tasa de Mutación Pronóstico Riesgo Tasa de Supervivencia Adulto Joven [Pt] Tipo de publicación: JOURNAL ARTICLE [Nm] Nombre de substancia: 0 (Nuclear Proteins); 0 (Phosphoproteins); 0 (Ribonucleoprotein, U2 Small Nuclear); 0 (Ribonucleoproteins); 0 (SF3B1 protein, human); 0 (U2AF1 protein, human); 147153-65-9 (SRSF2 protein, human) [Em] Mes de ingreso: 1304 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 130226 [St] Status: MEDLINE [do] DOI: 10.1002/ajh.23373

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[PMID]: 22858568 [Au] Autor: Surapolchai P; Ha SY; Chan GC; Lukito JB; Wan TS; So CC; Chiang AK [Ad] Dirección: Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China. [Ti] Título: Central diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7. [So] Fuente: J Pediatr Hematol Oncol;35(2):e84-7, 2013 Mar. [Is] ISSN: 1536-3678 [Cp] País de publicación: United States [La] Idioma: eng [Ab] Resumen: Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of DI arising as a complication in myeloid malignancies demonstrate a close association with deletion of chromosome 7. The clinical characteristics and outcomes of these uncommon cases in children are reviewed and discussed. [Mh] Términos MeSH primario: Deleción Cromosómica Diabetes Insípida Neurogénica/etiología Leucemia Mielomonocítica Juvenil/complicaciones [Mh] Términos MeSH secundario: Niño Cromosomas Humanos Par 7 Femenino Humanos Leucemia Mielomonocítica Juvenil/genética [Pt] Tipo de publicación: CASE REPORTS; JOURNAL ARTICLE [Em] Mes de ingreso: 1304 [Sb] Subgrupo de revista: IM [Da] Fecha de ingreso para procesamiento: 130215 [St] Status: MEDLINE [do] DOI: 10.1097/MPH.0b013e3182580d88

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