Abstract:
BACKGROUND AND OBJECTIVE:We previously found a high-level amplification in chromosomal region 21q22 in two children with acute lymphoblastic leukemia (ALL) using comparative genomic hybridization. The same region harbors the AML1 gene. The aim of the present study was to investigate whether AML1 is a target gene in these amplifications. DESIGN AND METHODS:Bone marrow samples were obtained from 112 childhood ALL patients. The copy number of AML1 was studied using fluorescent in situ hybridization with a dual color DNA probe specific for the AML1 and TEL genes. RESULTS:Three of the patients had 3-to-8 fold amplification of AML1 and showed a high-level amplification of 21q22 by comparative genomic hybridization. In two of them the extra copies were shown to be located tandemly in a derivative of chromosome 21. Thirty-seven of the patients (33%) had 1-to-2 extra copies of AML1, most probably reflecting the incidence of trisomy 21 and tetrasomy 21. The TEL-AML1 fusion was less frequent in the patients with extra copies of AML1 (7/40; 18%) than in the patients with no extra copy (24/72; 33%). None of the three patients with 3-to-8 fold amplification of AML1 showed the fusion or loss of TEL. INTERPRETATION AND CONCLUSIONS:Our findings suggest that the AML1 gene is a target gene in the 21q22 amplicon in childhood ALL. To understand the role, if any, of the AML1 amplification in leukemogenesis, further studies are needed.
journal_name
Haematologicajournal_title
Haematologicaauthors
Niini T,Kanerva J,Vettenranta K,Saarinen-Pihkala UM,Knuutila Skeywords:
subject
Has Abstractpub_date
2000-04-01 00:00:00pages
362-6issue
4eissn
0390-6078issn
1592-8721journal_volume
85pub_type
杂志文章相关文献
HAEMATOLOGICA文献大全abstract::Sixteen patients with stage III multiple myeloma (MM) and a median age of 51 years were treated with autografting followed by reduced intensity conditioning allotransplantation (RICT). Nine patients are alive in remission at a median of 30 months after their transplants, one patient is alive in relapse and 6 patients ...
journal_title:Haematologica
pub_type: 临床试验,信件
doi:
更新日期:2004-12-01 00:00:00
abstract::Tyrosine kinase inhibitors (TKIs) are highly effective for the treatment of chronic myeloid leukemia (CML), but very few patients are cured. The major drawbacks regarding TKIs are their low efficacy in eradicating the leukemic stem cells responsible for disease maintenance and relapse upon drug cessation. Herein, we p...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2017.169946
更新日期:2018-03-01 00:00:00
abstract::Multicytokine therapy may be useful to counteract radiation-induced myelosuppression. We assessed the stem cell factor + glycosylated erythropoietin + pegylated granulocyte colony-stimulating factor combination (SEG) as an emergency treatment. SEG in highly irradiated monkeys efficacy appeared to be restricted to gran...
journal_title:Haematologica
pub_type: 信件
doi:10.3324/haematol.12183
更新日期:2008-03-01 00:00:00
abstract::The regulation of platelets by oxidants is critical for vascular health and may explain thrombotic complications in diseases such as diabetes and dementia, but remains poorly understood. Here, we describe a novel technique combining electron paramagnetic resonance spectroscopy and turbidimetry, which has been utilized...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.208819
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Inhibition of soluble fibrinogen binding to activated platelets represents the target of pharmacologic approach with antagonists of the glycoprotein IIb/IIIa (GPIIb/IIIa) complex. In this study we assessed the effects of abciximab, a recombinant chimeric Fab fraction of the antibody against GP...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2001-02-01 00:00:00
abstract::A case of acute adult T-cell leukemia-lymphoma (ATLL) was observed in northeast Italy, presenting with fever, lymphadenomegaly, splenomegaly, hypercalcemia and renal failure. Leukaemic cells were morphologically typical, expressed a T-cell CD4+ phenotype, did not display any helper functions, and grew in vitro under s...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1990-07-01 00:00:00
abstract:BACKGROUND:In recent years many therapeutic regimens have been designed in order to improve response rate and response duration in non-Hodgkin's lymphoma (NHL). In 1991 the Italian Lymphoma Study Group (GISL) started a prospective randomized trial on treatment of aggressive and advanced NHL, focused on the efficacy of ...
journal_title:Haematologica
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:
更新日期:1993-09-01 00:00:00
abstract::As the defective genes for more and more genetic disorders become unravelled, it is clear that patients with apparently identical genotypes can have many different clinical conditions even in simple monogenic disorders. Beta thalassemia occurs when there is a deficiency in the synthesis of beta globin chains. The clin...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:
更新日期:2005-05-01 00:00:00
abstract::In ribosomopathies, the Diamond-Blackfan anemia (DBA) or 5q- syndrome, ribosomal protein (RP) genes are affected by mutation or deletion, resulting in bone marrow erythroid hypoplasia. Unbalanced production of ribosomal subunits leading to a limited ribosome cellular content, regulates translation at the expense of th...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2019.239970
更新日期:2020-04-23 00:00:00
abstract::Hodgkin's lymphoma (HL) simulating acute cholestatic hepatitis is a very unusual clinical picture. Massive liver infiltration with conspicuous acute cholestatic symptoms, in fact, suggests more aggressive systemic diseases such as non Hodgkin's lymphomas or acute leukemias. Nevertheless, we observed two cases of mixed...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1989-05-01 00:00:00
abstract:BACKGROUND:Paroxysmal nocturnal hemoglobinuria (PNH) is associated with an increased risk of thrombosis through unknown mechanisms. DESIGN AND METHODS:We studied 23 patients with PNH, before and after five and 11 weeks of treatment with eculizumab. We examined markers of thrombin generation and reactional fibrinolysis...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究
doi:10.3324/haematol.2009.016121
更新日期:2010-04-01 00:00:00
abstract::Three cases of hepatic and/or splenic mycosis in children with acute leukemia are reported. Patients presented with fever not responding to broad spectrum antibiotics during or after prolonged and profound neutropenia. Noteworthy, in 1 case no abnormality in liver function tests was detectable at diagnosis. CT scan sh...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1991-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Human immunodeficiency virus (HIV) infection was transmitted to many hemophilics treated with non-inactivated factor concentrates before 1986. The aim of this study was to know the long-term incidence of AIDS and risk factors for its development in HIV-infected hemophiliacs. DESIGN AND METHOD...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2001-03-01 00:00:00
abstract::BCL11A was the focus of recent studies on its inhibiting effect when bound onto the β-globin cluster in the mechanism of hemoglobin switching and HbF downregulation. We examined a cohort of 10 patients displaying different HbF levels and short deletions within the γβ-δ intergenic region to find a possible correlation ...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2012.061994
更新日期:2013-02-01 00:00:00
abstract::The detection of iron deficiency anemia is challenged by the paucity of diagnostic tests demonstrating high sensitivity and specificity. Using two biomarkers, zinc-protoporphyrin/heme and hepcidin, we established the diagnostic cut-off values for iron deficiency anemia in preschool children and women. We randomly sele...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.193243
更新日期:2018-12-01 00:00:00
abstract::One hundred patients with newly diagnosed multiple myeloma (MM) were treated with high-dose chemotherapy followed by single or double autologous stem cell transplantation (ASCT). Up-front treatment with a double ASCT tended to prolong progression-free and overall survival. ...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2005-04-01 00:00:00
abstract::Mastocytosis is a rare and chronic disease with phenotypes ranging from indolent to severe. Prognosis for this disease is variable and very few biomarkers to predict disease evolution or outcome are currently known. We have performed comprehensive screening in our large cohort of mastocytosis patients for mutations pr...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究
doi:10.3324/haematol.2013.095133
更新日期:2014-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Storage pool diseases (SPD) are heterogeneous disorders associated with an abnormal presence of intraplatelet granules, which cause mild to moderate bleeding diathesis. We investigated signaling through tyrosine phosphorylation of proteins occurring in platelets with total or partial absence o...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2002-06-01 00:00:00
abstract::Tumor microenvironment (TME) and limited immune surveillance play important roles in lymphoma pathogenesis. Here, we aimed to characterize immunological profiles of diffuse large B-cell lymphoma (DLBCL), and predict the outcome in response to immunochemotherapy. We profiled the expression of 730 immune-related genes i...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2019.243626
更新日期:2020-02-20 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Parvovirus B19 has a marked tropism for erythroid progenitor cells and this may lead to chronic anemia in predisposed individuals. It was the purpose of the present study to investigate prospectively the frequency of parvovirus B19 infections in patients with a diagnosis of chronic anemia. MET...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1997-07-01 00:00:00
abstract:BACKGROUND:We have shown previously that both erythrocyte production rate (EPR) and plasma erythropoietin (EPO) levels in response to hypoxia or to compounds able to stimulate EPO secretion are very much higher in post-hypoxic (PH) than in hypertransfused (HT) polycythemic mice with similar levels of hematocrit. Since ...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1992-11-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Whether degree of iron stores influences progression of human immunodeficiency virus (HIV) disease is controversial. We studied the relationship of indirect measures of iron stores with mortality in highly active antiretroviral therapy (HAART)-naive participants from the Women's Interagency HI...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究
doi:
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND:Diamond-Blackfan anemia is a rare, clinically heterogeneous, congenital red cell aplasia: 40% of patients have congenital abnormalities. Recent studies have shown that in western countries, the disease is associated with heterozygous mutations in the ribosomal protein (RP) genes in about 50% of patients. The...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究
doi:10.3324/haematol.2009.020826
更新日期:2010-08-01 00:00:00
abstract:BACKGROUND:The nucleoside analogue fludarabine is used in the treatment of chronic lymphocytic leukemia. It triggers p53-mediated apoptosis, although the mutational status of p53 does not fully account for heterogeneity in responsiveness to treatment. The aim of this study was to identify new genes implicated in fludar...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.13186
更新日期:2008-12-01 00:00:00
abstract::Five patients with lymphoid blastic transformation of chronic myeloid leukemia have been treated with IL2 associated with Vincristine (VCR) plus Prednisone (PDN). Our study indicates that IL2 may be employed in the management of this disease without excessive toxicity at the higher doses in hospitalized patients and a...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1990-11-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Our objective was to improve the outcome of cord blood (CB) transplantation in adults, by overcoming the limitations imposed by the low number of stem cells present in CB units. DESIGN AND METHODS:We combined single CB units and co-infusion of third party donor (TPD)-derived peripheral blood ...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2006-05-01 00:00:00
abstract::Ruxolitinib, a potent Janus kinase 1/2 inhibitor, resulted in rapid and durable improvements in splenomegaly and disease-related symptoms in the 2 phase III COMFORT studies. In addition, ruxolitinib was associated with prolonged survival compared with placebo (COMFORT-I) and best available therapy (COMFORT-II). We pre...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.3324/haematol.2014.119545
更新日期:2015-09-01 00:00:00
abstract::Myeloproliferative neoplasms are uncommon disorders in children, for which we have limited understanding of the pathogenesis and optimal management. JAK2 and MPL mutations, while common drivers of myeloproliferative neoplasms in adult patients, are not clearly linked to pediatric disease. Management and clinical outco...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:10.3324/haematol.2013.092684
更新日期:2014-04-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Improvements in the management of childhood acute lymphoblastic leukemia (ALL) did not prevent 20% to 30% of patients suffering from relapse. Moreover, the probability of relapse can rise up to 50% for some children presenting with very high risk (VHR) factors. Intensive chemotherapy and espec...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:
更新日期:2002-08-01 00:00:00
abstract::Patients with refractory or relapsed and refractory multiple myeloma who no longer receive benefit from novel agents have limited treatment options and short expected survival. del(17p) and t(4;14) are correlated with shortened survival. The phase 3 MM-003 trial demonstrated significant progression-free and overall su...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.3324/haematol.2014.117077
更新日期:2015-10-01 00:00:00