Abstract:
:Cytogenetic deletions of the short arm of chromosome 12 are common recurring alterations found in a wide range of haematological neoplasias, including childhood acute lymphoblastic leukaemia (ALL), the most frequent paediatric malignancy. Such a loss of genetic material suggests the presence of a tumour suppressor gene which plays an important role in growth regulation or in the differentiation of haemopoietic stem cells. To substantiate this hypothesis and to determine more precisely the chromosomal location of this putative gene, we applied a deletion mapping strategy based on the detection of loss of heterozygosity (LOH) at specific genomic loci in tumour cells. 13 polymorphic markers were used to screen DNA samples from 20 children with ALL. LOHs at 12p12.3 were observed in almost 50% of informative B-cell precursor ALL patients analysed. This is one of the most frequent genetic alterations found in this disease. A common region of LOH was delimited by the markers D12S89 (distal) and D12S358 (proximal), separated by a genetic interval of approximately 3 cM. We refined the position of the putative 12p tumour suppressor gene to a physical interval of <1.3 Mb, a crucial step towards the identification of candidate genes. A yeast artificial chromosome clone contig that spans the entire critically deleted region includes two known genes: TEL, a member of the ets family of transcription factors, and p27KIP1, a cyclin-dependent kinase inhibitor.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Baccichet A,Sinnett Ddoi
10.1046/j.1365-2141.1997.3663180.xsubject
Has Abstractpub_date
1997-10-01 00:00:00pages
107-14issue
1eissn
0007-1048issn
1365-2141journal_volume
99pub_type
杂志文章abstract::To examine the role of human DNA topoisomerase IIalpha (topo IIalpha) in drug resistance, we selectively inhibited topo IIalpha gene expression in U937 human monocytic leukaemia cells stably transfected with a plasmid that allowed for Zn-mediated conditional expression of a human alpha-topo IIalpha antisense sequence....
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00713.x
更新日期:1998-06-01 00:00:00
abstract::Risk factors for acute graft-versus-host disease (GvHD) remain controversial. We performed uni- and multivariate statistical analyses on a series of 37 patients receiving a non-depleted allogeneic bone marrow transplant from an HLA-identical sibling donor for a haematological malignancy, in order to identify risk fact...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1988.tb02508.x
更新日期:1988-12-01 00:00:00
abstract::Employing an immunoblotting procedure, we have identified and characterized an autoantigen carried on glycoprotein (GP) IIb in a patient with chronic idiopathic thrombocytopenic purpura (ITP), and have compared the location of the autoantigen with that of the platelet-specific alloantigen Baka. Immunoblots, using the ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1989.tb06278.x
更新日期:1989-01-01 00:00:00
abstract::Antibodies that inhibit von Willebrand Factor (VWF)-cleaving protease activity occur in patients with acute thrombotic thrombocytopenic purpura (TTP) and often persist in the chronic phase. A deficiency of this protease is likely to be responsible for the generation of ultrahigh VWF multimers and influence the formati...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.0007-1048.2002.03349.x
更新日期:2002-03-01 00:00:00
abstract::Adult survivors of childhood acute lymphoblastic leukaemia (ALL) have a four-fold excess risk of mortality from cardiovascular disease. This cardiovascular risk has not been fully characterized. ALL survivors [n = 784, median age 31·7 years (18·9-59·1)] in the St. Jude Lifetime Cohort Study underwent evaluation for ca...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12754
更新日期:2014-05-01 00:00:00
abstract::Patients with idiopathic anaemias associated with abnormal sideroblasts were defined according to morphologic and ferrokinetic criteria and the haematologic and biochemical effects of vitamin B6 therapy were evaluated. While all patients presented similar clinical pictures, peripheral blood changes and bone marrow abn...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1979.tb01129.x
更新日期:1979-06-01 00:00:00
abstract::Thirty-six patients with multiple myeloma (23 PR1, nine PR2, four stable disease) were entered into a pilot study evaluating the use of CD34+-selected peripheral blood progenitor cell transplantation (PBPCT) following high-dose melphalan alone or high-dose melphalan and total body irradiation. Peripheral blood progeni...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2141.1999.01133.x
更新日期:1999-01-01 00:00:00
abstract::Distinguishing Burkitt lymphoma (BL) from B cell lymphoma, unclassifiable with features intermediate between diffuse large B-cell lymphoma (DLBCL) and BL (DLBCL/BL), and DLBCL is challenging. We propose an immunohistochemistry and fluorescent in situ hybridization (FISH) based scoring system that is employed in three ...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2141.2011.08771.x
更新日期:2011-09-01 00:00:00
abstract::This study shows a marked and protracted activation of HbF synthesis in homozygous beta.-thalassaemia patients transplanted from HLA identical siblings heterozygous for beta-thalassaemia, as compared to patients transplanted from normal donors. HbF synthesis in recipients was much higher in relation to the correspondi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1989.tb04324.x
更新日期:1989-08-01 00:00:00
abstract::In recent years, the most common cause of infection in neutropenic patients has shifted from Gram-negative to Gram-positive bacteria. To compare the efficacy and toxicity of teicoplanin and vancomycin in neutropenic patients, we conducted a prospective study of 151 adult leukaemic patients hospitalized for intensive c...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2141.1990.tb07934.x
更新日期:1990-12-01 00:00:00
abstract::A highly sensitive Y-microsatellite amplification system was developed for the detection of post bone marrow transplantation (BMT) chimaerism. The system is able to detect the DNA equivalent of a single male cell in a background of 10(5) female cells. For clinical applications it has the distinct advantage that the po...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb08380.x
更新日期:1995-03-01 00:00:00
abstract::The role of factor XI (FXI) in blood coagulation has been clarified in recent years by descriptions of FXI-deficient patients who are prone to excessive bleeding after haemostatic challenge. We have studied a large kindred of an Italian FXI-deficient patient with a previously undescribed mutation. The propositus, a 68...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01150.x
更新日期:1999-01-01 00:00:00
abstract::We report 14 normal peripheral blood stem cell (PBSC) donors > or = 60 years of age who had cytokine mobilization followed by PBSC apheresis for allogeneic transplantation. Mobilization was achieved with filgrastim (6 microg/kg twice daily). Their median age was 63.5 years (range 60-77), and 43% had a positive medical...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.302677.x
更新日期:1997-05-01 00:00:00
abstract::Phytosterolaemia (sitosterolaemia) is a recessively inherited metabolic condition in which the absorption of both cholesterol and plant-derived cholesterol-like molecules at the gut is unselective and unrestricted. In haematology, Mediterranean stomatocytosis or Mediterranean macrothrombocytopenia is a poorly understo...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05599.x
更新日期:2005-07-01 00:00:00
abstract::Ibrutinib is associated with response rate of 90% and median progression-free survival (PFS) in excess of 5 years in Waldenström macroglobulinaemia (WM) patients. CXCR4 mutations are detected in 30-40% of patients with WM and associate with lower rates of response and shorter PFS to ibrutinib therapy. Both frameshift ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.16088
更新日期:2019-11-01 00:00:00
abstract::The in vitro efficacies of three new drugs--clofarabine (CLOF), nelarabine (NEL) and flavopiridol (FP) - were assessed in a panel of acute lymphoblastic leukaemia (ALL) cell lines. The 50% inhibitory concentration (IC50) for CLOF across all lines was 188-fold lower than that of NEL. B-lineage, but not T-lineage lines,...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2007.06527.x
更新日期:2007-04-01 00:00:00
abstract::Increasing demand for population screening for the haemoglobinopathies gives rise to a requirement for high throughput systems, which allow for cost effective, rapid, sensitive and specific screening of clinically significant haemoglobins. We have developed a practical and efficient approach using tryptic digestion an...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05646.x
更新日期:2005-08-01 00:00:00
abstract::Diamond Blackfan anaemia (DBA) is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. Classical DBA affects about seven per million live births and presents during the first year of life. However, as mutated genes have been discovered in DBA, non-classical cases with less distinct phenotypes ...
journal_title:British journal of haematology
pub_type: 共识发展会议,杂志文章
doi:10.1111/j.1365-2141.2008.07269.x
更新日期:2008-09-01 00:00:00
abstract::Summary Previous findings of megakaryocytic hypogranulation and dysmegakaryocytopoietic features in acute myeloid leukaemia (AML) strongly indicate defects in platelet production. The bleeding tendency of these patients may result from dysregulated platelet production, resulting in thrombocytopenia as well as qualitat...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.05156.x
更新日期:2004-10-01 00:00:00
abstract::Fanconi anaemia (FA) is an autosomal recessive disease strongly predisposing to bone marrow failure and acute myeloid leukaemia (AML). Four FA genes, corresponding to complementation groups A, C, F and G, have been cloned, but the molecular functions of the corresponding proteins are unknown. The high risk of AML in F...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract::Data on endogenous thrombopoietin (TPO) levels and their regulation in myelodysplastic syndromes (MDS) are sparse. We examined the plasma TPO level of 85 MDS patients by a sensitive enzyme immunoassay and the platelet expression of TPO receptor (TPO-R) protein, which metabolizes endogenous TPO, in 19 MDS patients with...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.01054.x
更新日期:1998-12-01 00:00:00
abstract::Epistaxis is a common problem amongst anti-coagulated patients. Application of first-aid principles can control the majority of bleeds. In our sample of 60 patients attending the anticoagulant clinic, 40% were unable to think of a single measure that would be helpful in controlling a nose bleed. 6 weeks after being gi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.d01-1865.x
更新日期:1996-10-01 00:00:00
abstract::We present a new method to detect the major beta-thalassaemia mutations of the Mediterranean countries (IVS I-1, IVS I-6, IVS I-110, CD-37 and CD-39). The procedure is based upon real-time polymerase chain reaction (PCR), using specific fluorescently labelled hybridization probes. The melting curves for each of the sp...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03823.x
更新日期:2002-11-01 00:00:00
abstract::The peripheral T-cell neoplasms are a biologically and clinically heterogeneous group of rare disorders that result from clonal proliferation of mature post-thymic lymphocytes. Natural killer (NK) cell neoplasms are included in this group. The World Health Organization classification of haemopoietic malignancies has d...
journal_title:British journal of haematology
pub_type: 杂志文章,实务指引,评审
doi:10.1111/j.1365-2141.2011.08651.x
更新日期:2011-05-01 00:00:00
abstract::Major ABO mismatching is not considered a contraindication to allogeneic haematopoietic stem cell transplantation (HSCT). Modern reduced-intensity conditioning and reduced-toxicity regimens cause much less myeloablation than conventional myeloablative regimens, such as cyclophosphamide with busulfan or total body irra...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12210
更新日期:2013-03-01 00:00:00
abstract::Clinical and laboratory data are presented for two patients with a dyshaematopoietic disorder, and monosomy 7 in their bone marrow cells. The first patient, a 55-year-old woman, had been treated with chlorambucil for an ovarian carcinoma. After 4 years an oligoblastic myeloid leukaemia was diagnosed and she later died...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1977.tb08767.x
更新日期:1977-09-01 00:00:00
abstract::Peripheral blood progenitor cell (PBPC) mobilization was evaluated in 53 patients receiving the high-dose sequential (HDS) regimen: 27 had non-Hodgkin's lymphoma or Hodgkin's disease, primary refractory or at first relapse, 26 had non-Hodgkin's lymphoma at diagnosis. Mobilization was assessed following either 7 g/m2 c...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2141.1997.3433157.x
更新日期:1997-10-01 00:00:00
abstract::Blood donor screening for antibody to hepatitis B core antigen (anti-HBc) implemented in some countries as a surrogate marker for non-A, non-B hepatitis has been superseded by anti-HCV screening. To assess the value of anti-HBc screening for the detection of hepatitis B surface antigen-negative blood donations that mi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01665.x
更新日期:1999-10-01 00:00:00
abstract::We have identified the beta-thalassaemia alleles in nearly all known Turkish Cypriot beta-thalassaemia homozygotes and in over 700 Greek Cypriot beta-thalassaemia heterozygotes living on the island of Cyprus. The data confirmed earlier observations that the IVS-I-100 (G-->A) mutation is present for about 74-80%, while...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1992.tb03000.x
更新日期:1992-08-01 00:00:00
abstract::To identify and treat patients at high risk of cytomegalovirus (CMV) pneumonia after bone marrow transplantation (BMT), we tested for CMV viraemia weekly, and performed broncho-alveolar lavage (BAL) on day 35 post-transplant in 63 recipients. 36 allogeneic BMT recipients were at a high risk of CMV pneumonia (25 CMV-se...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.1752987.x
更新日期:1997-07-01 00:00:00