Abstract：
:The t(4;14) translocation is found in approximately 10% of myeloma patients and results in the deregulation of at least two genes, MMSET and fibroblast growth factor receptor 3 (FGFR3), with the formation of a fusion product between MMSET and the immunoglobulin heavy chain (IgH) locus and overexpression of FGFR3. We have analysed a series of 80 patient samples, comprising 67 multiple myeloma (MM) cases and 13 monoclonalgammopathy of undetermined significance (MGUS) cases, using RT-PCR to detect IgH-MMSET fusions. The t(4;14) translocation was detected in 7/67 (10%) myeloma cases and all seven expressed FGFR3 which was not seen in t(4;14)-negative myeloma cases. In the MGUS cases, a similar proportion of t(4;14)-positive cases was found (2/13; 15%), but none of these expressed FGFR3. All patients with detectable FGFR3 expressed both the FGFR3 IIIb and FGFR3 IIIc isoforms, the result of alternative splicing in the ligand binding domain, and exon-deleted variants of FGFR3. We also identified a cryptic splice site in MMSET which results in a 277 amino acid deletion downstream of the breakpoint on der(4). FGFR3 mutation analysis revealed no mutations in the presenting myeloma or MGUS samples. However, we also had access to paired presentation and relapse samples which had been taken from a patient 13 months apart. Both samples had the t(4;14) translocation and overexpressed FGFR3, but only the relapse sample possessed the K650E mutation in the kinase domain of FGFR3. This suggests that targeted mutation in the translocated FGFR3 gene when under the control of the immunoglobulin promoters can occur and may provide one mechanism for disease progression.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Sibley K,Fenton JA,Dring AM,Ashcroft AJ,Rawstron AC,Morgan GJdoi
10.1046/j.1365-2141.2002.03618.xsubject
Has Abstractpub_date
2002-08-01 00:00:00pages
514-20issue
2eissn
0007-1048issn
1365-2141pii
3618journal_volume
118pub_type
杂志文章abstract：:Hepatocyte growth factor (HGF) has been known as a versatile functional molecule, and as being involved in the colony formation of haemopoietic progenitor cells. Clinically, an elevated HGF level in the blood has been associated with liver diseases such as fulminant hepatic failure and acute hepatitis. We have found a...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1994.tb08330.x
更新日期：1994-07-01 00:00:00
abstract：:Studies during the last three decades have enabled the development of detailed molecular insights into the structural basis of altered function in various inherited red cell membrane disorders. This review highlights our current understanding of molecular and mechanistic insights into various inherited red cell membra...
journal_title：British journal of haematology
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2141.2008.07091.x
更新日期：2008-05-01 00:00:00
abstract：:Feto-maternal incompatibility for the human platelet antigen HPA-1a is an important cause of severe fetal thrombocytopenia. The incidence is 1 in 1000-2000 pregnancies, which is more common than other conditions for which screening is presently carried out. Antenatal diagnosis and management are now available, but onl...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1995.tb05152.x
更新日期：1995-06-01 00:00:00
abstract：:The prognostic relevance of karyotype has been established in adult acute lymphoblastic leukaemia (ALL) patients treated with chemotherapy but not definitively evaluated in an allogeneic bone marrow transplantation (BMT) setting. To determine the factors affecting the outcome of allogeneic BMT for adults with precurso...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1046/j.1365-2141.2002.03403.x
更新日期：2002-04-01 00:00:00
abstract：:Kinetic studies were performed to determine the clearance of iodinated transferrin in hypotransferrinaemic mice, as compared to normal animals. Clearance of i.v. (and i.p.) administered radiolabelled protein in homozygous (hpx/hpx) mice was significantly faster than in heterozygous (hpx/+) and wild-type control (+/+) ...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1995.tb08926.x
更新日期：1995-01-01 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：:Significant increases in prolyl hydroxylase activity, a key enzyme in the collagen biosynthetic pathway, were noted in the hepatic homogenates of iron-loaded animals as compared to controls. The increase in prolyl hydroxylase activity was seen without any light microscopic histologic evidence of cell necrosis or accum...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1985.tb02997.x
更新日期：1985-02-01 00:00:00
abstract：:The combination of bortezomib and rituximab was evaluated in patients with mantle cell lymphoma (MCL), follicular lymphoma (FL) and Waldenström macroglobulinaemia (WM), in a Phase I and later, a randomized Phase II study. In the randomized study, 42 patients with recurrent/refractory disease received either: bortezomi...
journal_title：British journal of haematology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1111/j.1365-2141.2010.08340.x
更新日期：2010-11-01 00:00:00
abstract：:We identified two patients with a t(2;4)(p24;q12) and a t(4;12)(q2?3;p1?2), respectively, in association with BCR-ABL and FIP1L1-PDGFRA negative chronic eosinophilic leukaemia. Molecular analysis revealed a novel STRN-PDGFRA fusion for the t(2;4) and ETV6-PDGFRA for the t(4;12). The fusions were confirmed by specific ...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.2007.06628.x
更新日期：2007-07-01 00:00:00
abstract：:18F-fluoro-deoxyglucose (FDG) positron emission tomography (PET) might be a better tool than computerized tomography (CT) in predicting long-term treatment outcome in patients with relapsed chemosensitive lymphoma who are candidates for autologous stem cell transplantation (ASCT). We studied patients with recurrent or...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1046/j.1365-2141.2003.04593.x
更新日期：2003-10-01 00:00:00
abstract：:The blood-related cancer leukaemias were the first diseases where human cancer stem cells, or leukaemic stem cells (LSC), were isolated. The haematopoietic system is one of the best tissues for investigating cancer stem cells, because the developmental hierarchy of normal blood formation is well defined. Leukaemias ca...
journal_title：British journal of haematology
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2141.2005.05596.x
更新日期：2005-08-01 00:00:00
abstract：:Gene amplification is defined as a copy number (CN) increase in a restricted region of a chromosome arm, and is a mechanism for acquired drug resistance and oncogene activation. In multiple myeloma (MM), high CNs of genes in a 1q12 approximately 23 amplicon have been associated with disease progression and poor progno...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.2009.07869.x
更新日期：2009-11-01 00:00:00
abstract：:Drug-related neutropenia is a common observation in AIDS patients. Haematological growth factors are therefore increasingly used in combination with myelotoxic agents to reduce the risk of infection and to improve the haematological tolerance of these regimens. We report a case of an AIDS patient with Kaposi's sarcoma...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1994.tb04934.x
更新日期：1994-06-01 00:00:00
abstract：:Gaucher disease (GD) is an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase (GluCerase) that leads to glucosylceramide (GluCer) accumulation. We previously demonstrated the existence of imbalances in certain lymphocyte populations in GD patients. We now show that GluCerase-deficient mono...
journal_title：British journal of haematology
pub_type： 临床试验,杂志文章
doi：10.1111/j.1365-2141.2005.05503.x
更新日期：2005-06-01 00:00:00
abstract：:A new glucose-6-phosphate dehydrogenase variant detected in an Italian man from the Po delta is described and designated as G6PD Modena. Biochemical characterization of the variant enzyme revealed an activity 21% of normal, a slow electrophoretic mobility, increased Km value for NADP, decreased Km value for G6P and a ...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1994.tb04896.x
更新日期：1994-05-01 00:00:00
abstract：:Translocations involving the MLL gene on the chromosome 11 (11q23) are frequently observed in acute leukaemia. The detection of this genetic change has a unique significance as a result of its implication of poor prognosis. To reveal the utility of fluorescence in situ hybridization (FISH) in detecting the MLL translo...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1046/j.1365-2141.2002.03937.x
更新日期：2002-12-01 00:00:00
abstract：:Factors affecting iron efflux from the isolated perfused rat liver were studied following the intravenous administration of transferrin-(59)Fe or transferrin-(55)Fe administered to the rat from 1.5 h to 3.5 d before perfusion of the liver. The liver was perfused with rat red cells suspended either in rat plasma or Eag...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1980.tb07184.x
更新日期：1980-08-01 00:00:00
abstract：:Virchow's triad describes three factors that contribute to the development of venous thrombosis: hypercoagulability, stasis and endothelial injury. Yet, extensive review of the historical literature casts doubt on the existence of a triad described by Virchow in the form it is currently quoted throughout contemporary ...
journal_title：British journal of haematology
pub_type： 传,历史文章,杂志文章
doi：10.1111/j.1365-2141.2008.07323.x
更新日期：2008-10-01 00:00:00
abstract：:To determine the effects of L-arginine (L-Arg) supplementation on nitric oxide metabolite (NOx) production, oral L-Arg was given to normal controls, sickle cell disease (SCD) patients at steady state and SCD patients hospitalized with a vaso-occlusive crisis (VOC). L-Arg (0.1 g/kg) increased NOx formation by 18.8 +/- ...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1046/j.1365-2141.2000.02403.x
更新日期：2000-11-01 00:00:00
abstract：:A 34-year-old man with chronic myeloid leukaemia (CML) firstly developed a lymphoid blast crisis of B-cell type. After a second chronic phase which lasted for > 4 years with maintenance chemotherapy of hydroxyurea, 6-mercaptopurine and methotrexate, he developed a T-cell acute lymphoblastic leukaemia of TcR-gammadelta...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1046/j.1365-2141.1999.01476.x
更新日期：1999-07-01 00:00:00
abstract：:Human IgG monoclonal antibodies (mabs) against the Rh D antigen have considerable potential for the prophylaxis of haemolytic disease of the newborn. We have carried out in vitro testing for cross-reactions with tissue components by screening two such mabs against animal tissues and a wide panel of human organs from n...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1993.tb08287.x
更新日期：1993-02-01 00:00:00
abstract：:Patients with solid tumours undergoing high-dose chemotherapy with autologous bone marrow transplantation use an average of 10 units of packed red blood cells (PRBC) while awaiting haemopoietic reconstitution. They are also known to have inappropriately low endogenous erythropoietin levels for their degree of anaemia....
journal_title：British journal of haematology
pub_type： 临床试验,杂志文章
doi：10.1111/j.1365-2141.1994.tb04886.x
更新日期：1994-05-01 00:00:00
abstract：:Chronic immune thrombocytopenia (ITP) is a haematological disorder in which patients predominantly develop skin and mucosal bleeding. Early studies suggested ITP was primarily due to immune-mediated peripheral platelet destruction. However, increasing evidence indicates that an additional component of this disorder is...
journal_title：British journal of haematology
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2141.2009.07717.x
更新日期：2009-09-01 00:00:00
abstract：:Shwachman-Diamond Syndrome (SDS) is a multi-system genetic disorder with bone marrow failure. SBDS, the gene associated with SDS, has been postulated to play a role in ribosome biogenesis and RNA processing, but its functions are still unknown. To study whether these pathways are interrupted when Sbds protein is lost,...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.2009.07692.x
更新日期：2009-06-01 00:00:00
abstract：:Some case reports and a Japanese series suggest benefit from the use of rituximab in patients with intravascular large B-cell lymphoma (IVL). Rituximab efficacy was evaluated in Western patients with IVL, comparing outcome of 10 patients treated with rituximab + chemotherapy (R-CT) and of 20 patients treated with chem...
journal_title：British journal of haematology
pub_type： 杂志文章,多中心研究
doi：10.1111/j.1365-2141.2008.07338.x
更新日期：2008-10-01 00:00:00
abstract：:Red cell membrane proteins have been examined in a family in which three children have severe transfusion-dependent homozygous hereditary elliptocytosis. The membranes in all three show a considerable excess of spectrin dimers over tetramers in spectrin extracts. The red cell membranes of their parents with heterozygo...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1983.tb02085.x
更新日期：1983-06-01 00:00:00
abstract：:This retrospective study aimed to analyse the impact on overall survival (OS) and event-free survival (EFS) of chimaerism status and kinetics following allogeneic conventional and reduced-intensity conditioning haematopoietic stem cell transplantation, and to compare this with the impact of other well-known factors. W...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.2005.05372.x
更新日期：2005-03-01 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：:Peripheral blood stem cells (PBSC) have been used increasingly for haemopoietic reconstitution after marrow-ablative chemotherapy in patients with acute leukaemia because of the possibility that there is a lower risk of leukaemic contamination. We have developed a titration assay using a competitive reverse transcript...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.1995.tb05258.x
更新日期：1995-09-01 00:00:00
abstract：:Multiple myeloma (MM) is a plasma cell malignancy that claims thousands of lives each year and has considerable morbidity. The disease remains incurable despite recent advances in the understanding of the disease biology and the introduction of more effective drugs is needed. This study evaluated the anti-MM activity ...
journal_title：British journal of haematology
pub_type： 杂志文章
doi：10.1111/j.1365-2141.2005.05946.x
更新日期：2006-03-01 00:00:00
