Abstract:
OBJECTIVES:Acquired trisomy 21 is one of the most common numerical abnormalities in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), and MDS/MPN; however, little is known about its pathogenic impact, accompanying submicroscopic changes, and its relation to other clinical features. Furthermore, previous studies addressing this issue have mainly focused on cases in which +21 was part of a complex karyotype. METHODS:We ascertained the incidence of +21, both as a sole change (T21s) and irrespective of additional changes (T21all), in relation to disease type, morphologic subgroup, gender, and age in all published AML, MDS, MPN, and MDS/MPN cases. Furthermore, single nucleotide polymorphism (SNP) array analysis was performed on 11 myeloid malignancies with T21s, followed by mutation analysis of the FGFR1, FLT3, GATA1, JAK2, KIT, NPM1, NRAS, RUNX1, and TET2 genes. RESULTS:The frequencies of T21s and/or T21all varied significantly among the AML, MDS, MPN, and MDS/MPN cases, among the AML and MPN subtypes, and in relation to the age of the AML, MDS, and MPN patients. In the 11 cases analyzed by SNP array, a total of nine genomic imbalances, comprising seven deletions and two duplications, were identified in six cases; none of the alterations were recurrent. Partial uniparental disomies (UPDs) were found in five cases; two recurrent UPDs were identified, namely UPD4q and UPD7q. Mutations in NPM1, RUNX1, and TET2 were detected in five cases, three of which harbored a pathogenic RUNX1 mutation. The TET2 mutation was found in one of the cases with UPD4q. CONCLUSIONS:The results show that trisomy 21-positive myeloid malignancies are clinically highly variable and that they display a heterogeneous pattern of copy number alterations and mutations.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
Larsson N,Lilljebjörn H,Lassen C,Johansson B,Fioretos Tdoi
10.1111/j.1600-0609.2011.01710.xsubject
Has Abstractpub_date
2012-02-01 00:00:00pages
136-43issue
2eissn
0902-4441issn
1600-0609journal_volume
88pub_type
杂志文章abstract::We are reporting here the results of differential gene expression experiments comparing two siblings, a 21-yr-old male and a 19-yr-old female, with the same alpha-thalassemia genotype (-alpha(3.7)/(--SEA)) and quite different levels of Hb H in the peripheral blood (18.7 and 5%, respectively). By using mRNA differentia...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2009.01325.x
更新日期:2009-11-01 00:00:00
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journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2006.00681.x
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abstract::The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23.3 has been reported to be frequently mutated in a number of solid tumours. Less is known about its status in leukaemia. In the present study we first analysed 13 leukaemia cell lines for mutations and homozygous deletions in MMAC1/PTEN using P...
journal_title:European journal of haematology
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abstract::Infectious mononucleosis may occasionally be complicated by purpura, but the mechanism of the thrombocytopenia is not known in detail. In the present study, 3 children with mononucleosis-associated purpura were found to have marked elevations of platelet-associated immunoglobulins and circulating platelet binding IgG ...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1989.tb01247.x
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abstract:BACKGROUND:The impact of coronavirus disease 2019 (COVID-19) in haematological patients (HP) has not been comprehensively reported. METHODS:We analysed 39 patients with SARS-CoV-2 infection and haematological malignancies. Clinical characteristics and outcomes were compared to a matched control group of 53 non-cancer ...
journal_title:European journal of haematology
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doi:10.1111/ejh.13493
更新日期:2020-11-01 00:00:00
abstract::To investigate the role of protein phosphorylation in the early phase of EPO-mediated signal transduction, we EPO-stimulated a murine erythroid cell line ELM-I-1 transformed by plasmids comprised of the c-fos enhancer/promoter linked to the luciferase gene. Using this reporter gene system, we previously showed that EP...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1994.tb00647.x
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abstract::Older patients with haemophilia (PWH) face many challenges related not only to haemophilia but also to general comorbidities associated with ageing. This article discusses the clinical experience published about the high prevalence of diseases in older PWH. These conditions are managed in the general population by hea...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
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更新日期:2015-02-01 00:00:00
abstract:OBJECTIVE:To determine the sensitivity and specificity of single-tube osmotic fragility (SOFT) and its different methods as screening test for thalassemia trait. METHODS:A cross-sectional study was conducted at Omair Sana Foundation. A total of 400 participants were included in the study. Three hundred were known thal...
journal_title:European journal of haematology
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journal_title:European journal of haematology
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journal_title:European journal of haematology
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journal_title:European journal of haematology
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doi:10.1111/j.1600-0609.2007.00821.x
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journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2007.00920.x
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journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1990.tb00358.x
更新日期:1990-02-01 00:00:00
abstract::Eighteen patients with malignant lymphoma, 10 non-Hodgkin's and 8 Hodgkin's, were treated with high-dose CVB (cyclophosphamide 4 x 1.5 g/m2, etoposide 4 x 250-400 mg/m2, carmustine 4 x 150-200 mg/m2), followed by autologous peripheral blood stem cells (PBSC, 13 patients) or bone marrow (BM, 5 patients) transplantation...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1993.tb00599.x
更新日期:1993-07-01 00:00:00
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journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/ejh.13383
更新日期:2020-04-01 00:00:00
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journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1988.tb00889.x
更新日期:1988-08-01 00:00:00
abstract::Cytomegalovirus (CMV) infection is one of the most common causes of morbidity and mortality after allogeneic marrow transplantation. We studied 14 consecutive CMV-seropositive patients adding ganciclovir (2.5 mg/kg i.v. every 8 hours for 7 days prior to transplant and 6 mg/kg three times a week after neutrophils becam...
journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
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更新日期:1991-11-01 00:00:00
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journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2008.01116.x
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journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1997.tb00931.x
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journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1993.tb00083.x
更新日期:1993-03-01 00:00:00
abstract::Many cost analyses of stem-cell transplantations are available, which is in sharp contrast to the level of cost analyses on first-line chemotherapy for aggressive non-Hodgkin's lymphoma (NHL). Given the scarcity of cost analyses of first-line chemotherapy for NHL, it is difficult to assess the economic impact of upcom...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2002.02772.x
更新日期:2002-10-01 00:00:00
abstract::Heparin binds to platelets and can cause platelet proaggregating and potentiating effects, possibly causing thrombocytopenia, particularly in patients in intensive care with hyperaggregable platelets. In this study we compared the platelet proaggregating and potentiating effects of unfractionated heparin (UH), 2 low m...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1997.tb01667.x
更新日期:1997-04-01 00:00:00
abstract::Acute panmyelosis with myelofibrosis is a rare and aggressive form of acute myeloid leukemia. We describe a new case with a huge proliferation of megakaryocytes, blast cells and reticulin fibers. The patient was treated with zoledronate, a third-generation bisphosphonate, and a gradual recovery from pancytopenia was o...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2004.00277.x
更新日期:2004-09-01 00:00:00
abstract:OBJECTIVES:Hypocholesterolemia has been previously described in patients affected by thalassemia. In this study we retrospectively evaluated the cholesterol level in two groups of patients affected by either thalassemia major (TM) or thalassemia intermedia (TI), with the aim of establishing factors correlated to hypoch...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2008.01195.x
更新日期:2009-03-01 00:00:00
abstract:OBJECTIVES:Recent studies have indicated that patients who receive stem cell transplantation (SCT) and rituximab demonstrate an increased risk of developing hypogammaglobulinemia. Such hypogammaglobulinemia has been found to be due to delayed recovery of memory B cells with an abnormal cell marker expression and impair...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.2008.01174.x
更新日期:2009-02-01 00:00:00
abstract::A case of hemoglobin H disease in combination with hemoglobin Constant Spring and a beta-globin chain variant is reported in a 3-yr-old Thai girl. On routine cellulose acetate electrophoresis, one abnormal band in addition to the hemoglobins A, A2, H, Bart's and Constant Spring was detected. The amount of this abnorma...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2001.066005312.x
更新日期:2001-05-01 00:00:00
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journal_title:European journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0609.2010.01447.x
更新日期:2010-07-01 00:00:00
abstract::Recent studies have greatly illuminated the genomic landscape of the myelodysplastic syndromes (MDS), and the pace of discovery is accelerating. The most common mutations found in MDS occur in genes involved in RNA splicing (including SF3B1, SRSF2, U2AF1, and ZRSR2) and epigenetic modification (including TET2, ASXL1, ...
journal_title:European journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/ejh.12515
更新日期:2015-07-01 00:00:00
abstract::We investigated the significance of cytokines (soluble interleukin-2 receptor, granulocyte-macrophage colony-stimulating factor, interleukin-6, and interferon-gamma) and CD68-positive microparticles in immune thrombocytopenic purpura. Cytokines were measured by enzyme-linked immunosorbent assay and microparticles were...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1600-0609.1995.tb00232.x
更新日期:1995-07-01 00:00:00
abstract::Host cells are protected from the lytic effect of the complement system by complement regulatory proteins. This study was designed to investigate the expression of complement regulatory proteins on leukemic blasts which may be susceptible to the lytic effects of the complement system in the circulation. The surface ex...
journal_title:European journal of haematology
pub_type: 杂志文章
doi:10.1034/j.1600-0609.2000.80097.x
更新日期:2000-01-01 00:00:00