Abstract:
BACKGROUND AND OBJECTIVES:Identification of chromosomal rearrangements is important for a precise risk-stratified diagnosis of hematologic malignancies. As the number of known translocations, specific for different types of leukemia increases, it takes ever more time and increasing amounts of patient's material to screen a single patient with individual polymerase chain reactions (PCR). The aim of this study was to develop a new approach combining specificity with high-throughput sufficient for rapid screening of clinical samples for the presence of numerous translocations. DESIGN AND METHODS:We designed an oligonucleotide microarray and used hybridization with microarrays in combination with multiplex reverse transcription-polymerase chain reaction (RT-PCR) assay for accurate and rapid identification of some major leukemias. The following translocations were used as prototypic: t(9;22) p210 and p190, t(4;11), t(12;21), and t(15;17). This approach was tested on five different cell cultures carrying translocations and on 22 clinical samples from leukemic patients. RESULTS:Distinctive hybridization signals were obtained for all types of chimeric transcripts from cell lines with translocations. Both the type of translocation and the splice variant were determined. The data demonstrated high specificity and reproducibility of the method. Analysis of the 22 clinical samples using the microarray-based approach showed complete agreement with standard PCR analysis. INTERPRETATION AND CONCLUSIONS:Our data suggest that oligonucleotide microarrays can be used as an efficient, alternative approach to the traditional post-PCR Southern blot analysis. The oligonucleotide microarray approach appears suitable for clinical screening of major risk-stratifying translocations in patients with leukemia.
journal_name
Haematologicajournal_title
Haematologicaauthors
Nasedkina T,Domer P,Zharinov V,Hoberg J,Lysov Y,Mirzabekov Akeywords:
subject
Has Abstractpub_date
2002-04-01 00:00:00pages
363-72issue
4eissn
0390-6078issn
1592-8721journal_volume
87pub_type
杂志文章相关文献
HAEMATOLOGICA文献大全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:BACKGROUND AND OBJECTIVES:Detection of minimal residual disease (MRD) by multiparameter flow cytometry is an emerging prognostic factor in patients with acute myeloid leukemia (AML). The present analysis aimed at improving the applicability of this approach to more patients with AML. DESIGN AND METHODS:Bone marrow sam...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2003-06-01 00:00:00
abstract:BACKGROUND:The mdr-1 gene, which codes for a 170-kd transmembrane glycoprotein (P170), is frequently overexpressed in multidrug resistant (MDR) tumor cell lines and in spontaneous tumors, including leukemia and lymphoma. However, it is also constitutively expressed as a normal gene in normal tissues. METHODS:We used h...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:High levels of erythrocyte destruction in sickle cell anemia (SCA) result in chronic hyperbilirubinemia, with cholelithiasis occurring in a subset of patients. We investigated whether susceptibility to cholelithiasis in SCA was associated with the promoter polymorphism of the 5?-diphosphate-gl...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2005-02-01 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 OBJECTIVE:Either low molecular weight heparin (LMWH) or unfractionated heparin (UH) may be used for the prophylaxis of post-operative venous thromboembolic disease (VTD) in elective hip replacement. This study was aimed at assessing the cost-effectiveness of LMWH over UH from the society perspective, whi...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1999-08-01 00:00:00
abstract:BACKGROUND:Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology. DESIGN AND METHODS:We studied 65 patients with dyskeratosis congenita and 127 unaffected relatives. Telomere length was measured by automated multicolor flow fluorescence in situ hybridization in...
journal_title:Haematologica
pub_type: 临床试验,杂志文章
doi:10.3324/haematol.2011.055269
更新日期:2012-03-01 00:00:00
abstract::Whole blood donors, especially frequently donating donors, have a risk of iron deficiency and low hemoglobin levels, which may affect their health and eligibility to donate. Lifestyle behaviors, such as dietary iron intake and physical activity, may influence iron stores and thereby hemoglobin levels. We aimed to inve...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2019.229450
更新日期:2020-10-01 00:00:00
abstract::The risk of developing premature ovarian failure and azoospermia is a major concern in long-term survivors treated for Hodgkin's lymphoma. Alkylating chemotherapy containing procarbazine and/or cyclophosphamide causes prolonged azoospermia in 90-100% of men and premature ovarian failure in 5-25% of women under the age...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:10.3324/haematol.2011.045856
更新日期:2011-11-01 00:00:00
abstract::Interleukin-10 failed to modify either the percentage of bcl-2+ cells or the number of bcl-2 molecules, or to reduce 2-chlorodeoxyadenosine- and fludarabine-induced apoptosis. The cytokine at 0.1 ng/mL induced an increase of cell survival both in the absence or in the presence of 2-chlorodeoxyadenosine, while no diffe...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:1998-11-01 00:00:00
abstract::The success story of hemophilia care first began in the 1970s, when the availability of plasma-derived concentrates of coagulation factor VIII (FVIII) and factor IX (FIX) provided efficacious treatment of bleeding in patients with hemophilia A and B. This positive scenario was consolidated in terms of greater safety a...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2019.232132
更新日期:2020-03-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Chromosome 5 and/or 7 abnormalities are cytogenetic findings indicative of a poor prognosis in patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). The only potential cure for such patients is allogeneic stem cell transplantation (SCT). As data on allogeneic SCT in thi...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2005-10-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Although acquired aplastic anemia is usually a chronic disorder, a small proportion of patients with aplastic anemia was reported to recover spontaneously without specific therapy such as allogeneic bone marrow transplantation or immunosuppressive treatment. We attempted to determine the rate ...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2001-09-01 00:00:00
abstract::The occurrence of immunoglobulin heavy chain (IgH) and/or T-cell receptor (TcR) gene rearrangements has been reported in some cases of acute non lymphoid leukemia (ANLL), and variously interpreted as reflecting "aberrant gene expression" or "lineage promiscuity" of the leukemic cell. In an attempt to verify the incide...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1990-03-01 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: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::Chronic lymphocytic leukemia is an incurable B-cell malignancy that is associated with tumor cell-mediated T-cell dysfunction. It therefore represents a challenging disease for T-cell immunotherapeutics. The CD19/CD3 bi-specific antibody construct blinatumomab (AMG103 or MT103) has been tested clinically in non-Hodgki...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2012.082248
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Recent progress in the development of diagnostic techniques has greatly facilitated the monitoring of minimal residual disease (MRD) in patients with chronic myeloid leukemia (CML) after allogeneic bone marrow transplantation (BMT), the only curative treatment for this disease. The presence of...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:
更新日期:2000-10-01 00:00:00
abstract::Platelets are critical to arterial thrombosis, which underlies myocardial infarction and stroke. Activated platelets, regardless of the nature of their stimulus, initiate energy-intensive processes that sustain thrombus, while adapting to potential adversities of hypoxia and nutrient deprivation within the densely pac...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.205724
更新日期:2019-04-01 00:00:00
abstract::The introduction of agents inhibiting the BCR-associated kinases such as ibrutinib has dramatically changed treatments algorithms of chronic lymphocytic leukaemia (CLL) as well as the role of different adverse prognosticators. We evaluated the efficacy of ibrutinib as single agent, in a real-life context, on 180 patie...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2020.251488
更新日期:2020-07-30 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:BACKGROUND AND OBJECTIVES:Oxidant damage is an important contributor to the premature destruction of erythrocytes and anemia in thalassemias. To assess the extent of oxidant damage of circulating erythrocytes and the effects of antioxidant therapy on erythrocyte characteristics and anemia, we used a mouse model of huma...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2004-11-01 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::CLLU1, located at chromosome 12q22, encodes a transcript specific to chronic lymphocytic leukemia and has potential prognostic value. We assessed the value of CLLU1 expression in the LRF CLL4 randomized trial. Samples from 515 patients with chronic lymphocytic leukemia were collected immediately before the start of tr...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2012.070201
更新日期:2013-02-01 00:00:00
abstract::We report a family with type I and type III protein S (PS) deficiency, which showed to be phenotypic variants of the same genetic disease. Direct sequencing analysis of the PROS1 gene was performed to establish the genotype. The ratio of protein C antigen and total PS antigen levels (protein C/S ratio) was used to cla...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2006-08-01 00:00:00
abstract::Patients with essential thrombocythemia often complain of various subjective neurological symptoms. This prospective study aims to assess their incidence and response to therapy. Among 37 consecutive patients with essential thrombocythemia, 11 presented with neurological symptoms. Among them 4 had thrombotic events, 7...
journal_title:Haematologica
pub_type: 临床试验,杂志文章
doi:10.3324/haematol.2011.050005
更新日期:2011-12-01 00:00:00
abstract::Juvenile myelomonocytic leukemia is a rare myeloproliferative neoplasm characterized by hyperactive RAS signaling. Neurofibromin1 (encoded by the NF1 gene) is a negative regulator of RAS activation. Patients with neurofibromatosis type 1 harbor loss-of-function mutations in NF1 and have a 200- to 500-fold increased ri...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2015.136002
更新日期:2016-10-01 00:00:00
abstract::It has been postulated that monitoring measurable residual disease (MRD) could be used as a surrogate marker of progression-free survival (PFS) in chronic lymphocytic leukemia (CLL) patients after treatment with immunochemotherapy regimens. In this study, we analyzed the outcome of 84 patients at 3 years of follow-up ...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.204891
更新日期:2019-11-01 00:00:00
abstract::Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematopoietic neoplasm whose immunophenotype remains incompletely characterized, particularly in terms of distinction from reactive plasmacytoid dendritic cells (PDCs). This limitation complicates detection of low-level involvement by BPDCN as well as mini...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2020.247569
更新日期:2020-04-02 00:00:00
abstract:BACKGROUND:The functional activity of the organic cation transporter 1 (OCT-1) protein (OCT-1 activity) is an excellent predictor of molecular response and progression-free survival in patients with newly diagnosed chronic phase chronic myeloid leukemia treated with imatinib as front-line therapy. DESIGN AND METHODS:I...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.3324/haematol.2011.056457
更新日期:2012-06-01 00:00:00