Abstract：
BACKGROUND AND OBJECTIVES:Patients with acute myeloblastic leukemia (AML) with features of myelodysplastic syndrome and abnormalities of megakaryocytopoiesis often have cytogenetic aberrations of 3q21 and 3q26 bands involving the paracentric inversion [inv(3) (q21q26)] or a reciprocal translocation [t(3;3) (q21;q26)]. These abnormalities frequently cause inappropriate expression of the EVI1 gene located at 3q26. Other genes that have been implicated at the rearrangement breakpoint are GR6 and RPN1 (both on 3q21). The aim of this study was to investigate the expression of the EVI1 fusion genes in AML patients with 3q21q26 syndrome. DESIGN AND METHODS:We used reverse transcription polymerase chain reaction to evaluate the expression of EVI1 and GR6, and particularly of the fusion genes RPN1-EVI1 and GR6-EVI1 in 9 AML patients with either inv(3)(q21q26) (7 cases) or t(3;3)(q21;q26) (2 cases). RESULTS:EVI1 and GR6 were always expressed, as was RPN1-EVI1; GR6-EVI1 was absent. In 8/9 patients, the part of EVI1 retained in RPN1-DEVI1 contained blocks B and C of the PR domain commonly found in the MDS1-EVI1 gene. In the remaining patient [with inv(3) (q21q26)], only block C was retained: we named this variant fusion gene RPN1-DEVI1. This patient lacked the micromegakaryocytopoiesis frequently found in 3q21q26 syndrome. INTERPRETATION AND CONCLUSIONS:These findings support the hypothesis that EVI1 activation plays a dominant role in the pathogenesis of the 3q21q26 syndrome. EVI1 expression might occur either as a consequence of rearrangements leading to the formation of different fusion transcripts, such as RPN1-EVI1 and RPN1-DEVI1 or following disruption of the PR activation domain of the MDS1-EVI1 gene.
journal_name
Haematologicajournal_title
Haematologicaauthors
Martinelli G,Ottaviani E,Buonamici S,Isidori A,Borsaru G,Visani G,Piccaluga PP,Malagola M,Testoni N,Rondoni M,Nucifora G,Tura S,Baccarani Mkeywords:
subject
Has Abstractpub_date
2003-11-01 00:00:00pages
1221-8issue
11eissn
0390-6078issn
1592-8721journal_volume
88pub_type
杂志文章相关文献
HAEMATOLOGICA文献大全abstract：BACKGROUND AND OBJECTIVES:Myelodysplastic syndromes (MDS) comprise a group of heterogeneous hematologic disorders with risk of leukemic evolution (LE). The French-American-British (FAB) co-operative group classifies them into five morphologic entities and the International Prognostic Scoring System (IPSS) proposes four...
journal_title：Haematologica
pub_type： 杂志文章,多中心研究
doi：
更新日期：2002-01-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:Patients with aggressive non-Hodgkin's lymphomas (NHL) who do not obtain a complete response (CR) after induction chemotherapy have a poor prognosis. However, provided they are sensitive to the first regimen of chemotherapy, 25-40% of them with a B-cell phenotype may achieve long-term survival...
journal_title：Haematologica
pub_type： 杂志文章,多中心研究
doi：
更新日期：2003-12-01 00:00:00
abstract：:Patients with anaplastic lymphoma kinase-positive anaplastic large cell lymphoma often present with B-symptoms or hemophagocytosis and generate an anti-tumor immune response. Specific serum cytokine levels or profiles may reflect the tumor burden, non-specific immune stimulation by the tumor or differences in the stre...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2017.177972
更新日期：2018-03-01 00:00:00
abstract：BACKGROUND:There is variability in the outcome of patients with chronic lymphocytic leukemia with apparently the same stage of disease. Identifying genetic variants that influence patients' outcome and response to treatment may provide important insights into the biology of the disease. DESIGN AND METHODS:We investiga...
journal_title：Haematologica
pub_type： 杂志文章,随机对照试验
doi：10.3324/haematol.2011.043471
更新日期：2011-10-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Patients affected by Hodgkin's disease (HD) in pathologic stage IA-IIA have a strong possibility of remission and long-term survival when treated with radiotherapy to extended fields. However, 20-30% of cases relapse in the five years following treatment and consequently need further therapy. T...
journal_title：Haematologica
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1999-10-01 00:00:00
abstract：:HLA molecules play an important role for immunoreactivity in allogeneic hematopoietic stem cell transplantation. To elucidate the effect of specific HLA alleles on acute graft-versus-host disease, we conducted a retrospective analysis using 6967 Japanese patients transplanted with T-cell-replete marrow from an unrelat...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2015.136903
更新日期：2016-04-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:We investigated whether cytogenetic findings (CG) on day 21 (D21) of the first course of chemotherapy predicted subsequent outcome in patients who presented with CG abnormalities. DESIGN AND METHODS:D21 CG analysis was performed in 197 patients. RESULTS:Nineteen percent of the patients had e...
journal_title：Haematologica
pub_type： 临床试验,杂志文章
doi：
更新日期：2003-07-01 00:00:00
abstract：:The present study reports a method for the easy, rapid and cost effective detection of heterozygous large deletions. As a model gene all exons of the antithrombin gene were amplified in a one tube multiplex polymerase chain reaction (PCR) and the products separated according to their size by reverse-phase ion-pair hig...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：2006-09-01 00:00:00
abstract：BACKGROUND:Oral deferiprone was suggested to be more effective than subcutaneous desferrioxamine for removing heart iron. Oral once-daily chelator deferasirox has recently been made commercially available but its long-term efficacy on cardiac iron and function has not yet been established. Our study aimed to compare th...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2009.019042
更新日期：2011-01-01 00:00:00
abstract：BACKGROUND:Hematocrit above the normal range for the population, such as in primary or secondary erythrocytosis, predisposes to both arterial and venous thrombosis. However, little is known about the association between hematocrit and risk of venous thromboembolism in a general population. DESIGN AND METHODS:Hematocri...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2009.008417
更新日期：2010-02-01 00:00:00
abstract：BACKGROUND:The relative efficacy of high-dose chemotherapy (HDC) compared to standard treatment for high-risk primary (HRPBC) or metastatic breast cancer (MBC) constitutes an area of intense controversy among the medical oncology community. A number of randomized trials have been conducted to address this issue. In mos...
journal_title：Haematologica
pub_type： 杂志文章,评审
doi：
更新日期：2003-02-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:Loss of heterozygosity (LOH) on the long arm of chromosome 7 (7q) has been frequently reported in several types of human cancer including hematologic malignancies. Moreover, monosomy of chromosome 7 and 7q deletions have been associated in acute myeloid leukemia (AML) with aggressive disease a...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：2003-04-01 00:00:00
abstract：:Thromboembolism is a serious complication of induction therapy for childhood acute lymphoblastic leukemia. We prospectively compared the efficacy and safety of antithrombotic interventions in the consecutive leukemia trials ALL-BFM 2000 and AIEOP-BFM ALL 2009. Patients with newly diagnosed acute lymphoblastic leukemia...
journal_title：Haematologica
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.3324/haematol.2018.194175
更新日期：2019-04-01 00:00:00
abstract：:The transferability of the T2* technique for measurement of tissue iron between magnetic resonance (MR) scanners is unknown. Heart and liver multi-breath-hold T2* sequences were installed on MR scanners at six different sites. T2* was assessed locally in five or more patients with thalassemia major (n=39), and subject...
journal_title：Haematologica
pub_type： 杂志文章,多中心研究
doi：
更新日期：2006-10-01 00:00:00
abstract：BACKGROUND:Diamond-Blackfan anemia is a fatal congenital anemia characterized by a specific disruption in erythroid progenitor cell development. Approximately 25% of patients have mutations in the ribosomal protein RPS19 suggesting that Diamond-Blackfan anemia may be caused by a defect in ribosome biogenesis and transl...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.13359
更新日期：2008-11-01 00:00:00
abstract：:Central nervous system (CNS) relapse of diffuse large B-cell lymphoma remains uncommon but catastrophic. The benefit of standalone intrathecal prophylaxis in reducing CNS recurrence is unclear and remains controversial. No systematic review analysing the evidence for stand-alone intrathecal prophylaxis has been perfor...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2019.229948
更新日期：2020-07-01 00:00:00
abstract：BACKGROUND AND OBJECTIVE:We analyzed the factors that affected the number and quality of peripheral blood stem cells (PBSC) collected for transplant in order to establish a minimum threshold for rapid hematopoietic recovery. DESIGN AND METHODS:From January 1995 to November 1996, a consecutive series of 67 patients, wi...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：1998-06-01 00:00:00
abstract：:This study aimed at evaluating the effectiveness of alpha interferon (IFN) in chronic myelomonocytic leukemia, a disease for which therapeutic options are still unsatisfactory. Fourteen sequential unselected patients received recombinant alpha-2b IFN (Intron-A, Schering-Essex) 3 megaU/day, progressively elevated to 10...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：1989-11-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:The rate of post-operative asymptomatic deep-vein thrombosis in Asian patients remains uncertain. The aim of this study was to estimate the rate of venous thromboembolism, including asymptomatic deep-vein thrombosis, undergoing hip or knee surgery and not receiving pharmacological thromboproph...
journal_title：Haematologica
pub_type： 杂志文章,多中心研究
doi：10.3324/haematol.10819
更新日期：2007-09-01 00:00:00
abstract：:Krüppel-like factor 4 is a transcription factor with anti-proliferative effects in differentiated cells, but with the ability to reprogram adult cells into cell-cycling pluripotent cells. In cancer, Krüppel-like factor 4 acts as either an anti-oncogene or an oncogene. We analyzed Krüppel-like factor 4 gene expression ...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2012.066944
更新日期：2013-09-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:The degree of globin chain imbalance and tissue hypoxia are important determinants of clinical severity in thalassemia syndromes. Thus phenotypic expression may be modified by interaction of alpha- and beta-thalassemia defects, level and type of hemoglobin synthesized and oxygen release to the...
journal_title：Haematologica
pub_type： 杂志文章
doi：
更新日期：2001-04-01 00:00:00
abstract：:Disease bulk is an important prognostic factor in early stage Hodgkin lymphoma, but its definition is unclear in the computed tomography era. This retrospective analysis investigated the prognostic significance of bulky disease measured in transverse and coronal planes on computed tomography imaging. Early stage Hodgk...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2016.141846
更新日期：2016-10-01 00:00:00
abstract：:T-cell acute lymphoblastic leukemia (T-ALL) patients frequently display NOTCH1 activating mutations and Notch can transcriptionally down-regulate the tumor suppressor PTEN. However, it is not clear whether NOTCH1 mutations associate with decreased PTEN expression in primary T-ALL. Here, we compared patients with or wi...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2009.011999
更新日期：2010-04-01 00:00:00
abstract：:The FMS-like tyrosine kinase 3 (FLT3) gene is mutated in 25-30% of patients with acute myeloid leukemia (AML). Because of the poor prognosis associated with FLT3-internal tandem duplication mutated AML, allogeneic hematopoietic stem-cell transplantation (SCT) was commonly performed in first complete remission. Remarka...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2019.243410
更新日期：2020-06-01 00:00:00
abstract：:We evaluate the long-term results of a prospective clinical study enrolling more than 100 adult patients with Burkitt lymphoma/leukemia. Depending on extent of disease, treatment consisted of six to eight rituximab infusions and four to six courses of intensive chemotherapy (attenuated in patients aged >55 years) with...
journal_title：Haematologica
pub_type： 临床试验,杂志文章,多中心研究
doi：10.3324/haematol.2013.086827
更新日期：2013-11-01 00:00:00
abstract：:In contrast to well-established hierarchical concepts of tumor stem cells, leukemia-initiating cells in B-cell precursor acute lymphoblastic leukemia have not yet been phenotypically identified. Different subpopulations, as defined by surface markers, have shown equal abilities to reconstitute leukemia upon transplant...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2017.167502
更新日期：2018-06-01 00:00:00
abstract：BACKGROUND AND OBJECTIVES:The efficacy and safety of added dexamethasone were assessed in patients with relapsed and/or refractory multiple myeloma who had a suboptimal response to bortezomib alone. DESIGN AND METHODS:In two previously reported, open-label, multicenter phase 2 studies, bortezomib 1.0 or 1.3 mg/m2 was ...
journal_title：Haematologica
pub_type： 杂志文章,多中心研究,随机对照试验
doi：
更新日期：2006-07-01 00:00:00
abstract：BACKGROUND:Assays to evaluate platelet function are often interchangeably used to assess "resistance" to aspirin. We compared different platelet function assays in patients treated or untreated with aspirin. DESIGN AND METHODS:Platelet function was evaluated in 162 subjects, 85 of whom were not being treated with any ...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2010.027102
更新日期：2010-12-01 00:00:00
abstract：:Aberrant expression of aurora kinase A is implicated in the genesis of various neoplasms, including acute myeloid leukemia. Alisertib, an aurora A kinase inhibitor, has demonstrated efficacy as monotherapy in trials of myeloid malignancy, and this efficacy appears enhanced in combination with conventional chemotherapi...
journal_title：Haematologica
pub_type： 杂志文章
doi：10.3324/haematol.2016.158394
更新日期：2017-04-01 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
