Abstract:
:MLL rearrangements were analysed in the blood of a patient receiving chemotherapy for diffuse large B-cell lymphoma using inverse polymerase chain reaction targeting exon 12, parallel sequencing and a custom algorithm design. Of thirteen MLL rearrangements detected, five were capable of generating MLL fusion genes, including MLL-MLLT3, the most common fusion in acute myeloid leukaemia (AML). Other fusions, all previously clinically unobserved, included MLL-NKD1, a fusion to the negative regulator of Wnt/β-catenin signaling, a pathway linked to leukaemic cell proliferation. The majority of the fusions exhibited clonal persistence from before treatment until 6 months post-chemotherapy, suggesting the fusions may confer a survival advantage to the mutant clone. MLL breakpoints were partly clustered at a specific location, indicating commonality in the process of their formation. Further, the same MLL breakpoint location exhibited a 50-100-fold increase in C to T transitions, consistent with attack by activation-induced cytidine deaminase (AICDA). As is also observed in AML and acute lymphoblastic leukaemia, in this single patient setting, MLL is capable of interacting with multiple fusion partners. This finding defines a discrete site of MLL susceptibility to fragmentation, linked to possible deregulation of AICDA function.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Shih SJ,Fass J,Buffalo V,Lin D,Singh SP,Diaz MO,Vaughan ATdoi
10.1111/j.1365-2141.2012.09248.xsubject
Has Abstractpub_date
2012-10-01 00:00:00pages
50-7issue
1eissn
0007-1048issn
1365-2141journal_volume
159pub_type
杂志文章abstract::Activating mutations of NOTCH1 are a common occurrence in T-cell acute lymphoblastic leukaemia (T-ALL), but its impact on T-ALL treatment is still controversial. In this study, the incidence, clinical features, and prognosis of 92 Chinese children with T-ALL treated using the Beijing Children's Hospital-2003 and Chine...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12866
更新日期:2014-07-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb05318.x
更新日期:1995-10-01 00:00:00
abstract::A stroma free platelet lysate supernatant (PLS) was prepared by repeatedly freezing and thawing a human platelet suspension separated from platelet rich plasma by gel filtration. The material was potently thrombogenic in a stasis model in rabbits, but only when combined with a purified preparation of factor Xa. The do...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1982.tb02803.x
更新日期:1982-07-01 00:00:00
abstract::Relapse of childhood acute lymphoblastic leukaemia (ALL) involving the eye is a rare but challenging problem. Twenty cases occurred in patients treated on the Medical Research Council United Kingdom Acute Lymphoblastic Leukaemia XI and ALL97 trials between 1991 and 2001, representing 2.2% of ALL relapses. Seventeen oc...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1046/j.1365-2141.2003.04280.x
更新日期:2003-04-01 00:00:00
abstract::Peripheral blood and bone marrow mononuclear cells from 10 patients with newly diagnosed Waldenström's macroglobulinaemia were analysed for the presence of leucocyte differentiation antigens using flow cytometry. Most patients had circulating intracytoplasmic-mu cells that were positive for the B-cell specific antigen...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb04139.x
更新日期:1987-04-01 00:00:00
abstract::(90) Y-ibritumomab-tiuxetan ((90) YIT) was used as a first-line therapy for patients with early-stage follicular lymphoma (FL) or marginal zone B-cell lymphoma (MZL). Thirty-one patients were treated, with an overall 3-month response rate of 100% (68% complete response, 29% unconfirmed complete response and 3% partial...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.13021
更新日期:2014-10-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03530.x
更新日期:2002-06-01 00:00:00
abstract::Two children affected by severe aplastic anaemia (SAA) underwent allogeneic bone marrow transplantation (BMT) using partially matched family donors. In both cases there was a successful engraftment of donor haemopoietic stem cells. However, after an initial erythropoietic recovery, 5 months following BMT both children...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1992.tb04571.x
更新日期:1992-04-01 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
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更新日期:1994-05-01 00:00:00
abstract::Neutrophil hypersegmentation (NH) is an important haematological feature of cobalamin or folate deficiency. As iron deficiency and folate deficiency often occur in the same target groups it is important to establish whether iron deficiency alone is a cause of NH. We report a case-control study which addresses this iss...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01756.x
更新日期:1999-12-01 00:00:00
abstract::Forty female patients with either primary anti-phospholipid syndrome (n = 26) or systemic lupus erythematosus (anti-phospholipid syndrome positive) (n = 14) were investigated for levels of factor XII, the presence of lupus anticoagulant and antibodies to cardiolipin, beta 2-glycoprotein I and factor XII. Twenty-one pa...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.02776.x
更新日期:2001-05-01 00:00:00
abstract::Current laboratory diagnostic methods for invasive fungal infection (IFI) in haemato-oncology patients are insensitive, resulting in late diagnosis and contributing to high mortality. In recent years, progress has been made in the development and evaluation of sensitive sero-diagnostic assays, including detection of g...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2004.05031.x
更新日期:2004-08-01 00:00:00
abstract::The role of antiphospholipid antibodies in the pathogenesis of the thrombocytopenia observed during primary antiphospholipid antibody syndrome (APAS) and systemic lupus erythematosus (SLE) remains controversial. We have used the MAIPA test to examine the frequency and specificity of anti-platelet antibodies directed a...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.2243038.x
更新日期:1997-08-01 00:00:00
abstract::The in vitro and in vivo activity of a deoxycytidine analogue, troxacitabine, alone or in combination with imatinib mesylate (IM), was evaluated against human chronic myeloid leukaemia (CML) cell lines both sensitive (KBM5 and KBM7) and resistant (KBM5-R and KBM7-R) to IM. These cell lines differ in their sensitivity ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.04831.x
更新日期:2004-03-01 00:00:00
abstract::Using a reverse transcription-polymerase chain reaction (RT-PCR), we identified a patient with typical clinical features of chronic myelogenous leukaemia (CML) in the chronic phase who showed no amplification of the CML-type BCR/ABL transcript. RT-PCR with primers detecting the acute lymphoid leukaemia (ALL)-type tran...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.d01-2066.x
更新日期:1997-03-01 00:00:00
abstract::Guidelines on hereditary spherocytosis (HS) published in 2004 (Bolton-Maggs et al, 2004) are here replaced to reflect changes in current opinion on the surgical management, (particularly the indications for concomitant splenectomy with cholecystectomy in children with mild HS, and concomitant cholecystectomy with sple...
journal_title:British journal of haematology
pub_type: 杂志文章,实务指引
doi:10.1111/j.1365-2141.2011.08921.x
更新日期:2012-01-01 00:00:00
abstract::Platelet function was evaluated in eight patients with chronic granulocytic leukaemia (CGL), seven Ph1 positive and one Ph1 negative. Seven of the eight patients' platelets had an absence of the second wave of adrenaline induced aggregation on at least one occasion, while five had impaired collagen aggregation. The pl...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1978.tb05836.x
更新日期:1978-12-01 00:00:00
abstract::Although haematopoietic cell transplantation (HCT) is curative for sickle cell anaemia (SCA), concerns about its short- and long-term toxicities limit its application. A potential toxicity is an adverse effect on growth. To identify an HCT growth effect, serial height and weight measurements from 53 children and adole...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
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更新日期:2007-02-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.d01-2683.x
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1981.tb07262.x
更新日期:1981-12-01 00:00:00
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::The peripheral blood lymphoid cells of five patients with Sézary syndrome (SS) were examined with respect to their surface membrane characteristics and their response to mitogens. These cells showed markedly defective mitogenic responses to a broad dose range of phytohaemagglutinin (PHA), pokeweed mitogen, concanavali...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1975.tb00890.x
更新日期:1975-12-01 00:00:00
abstract::In a series of 306 cases of myeloproliferative disorders followed over a period of 21 years, 18 cases of well-documented acute leukaemia were encountered. Leukaemias were either acute myeloblastic or myelomonocytic and occurred from 6 months to 20 years after the initial diagnosis. Onset was relatively abrupt and the ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1977.tb00661.x
更新日期:1977-07-01 00:00:00
abstract::In this study we investigated the proliferation of three well-documented MM lines and 10 bone marrow samples from myeloma patients in response to rh-SCF alone and combined with Interleukin-6 (IL-6), IL-3 and IL-3/GM-CSF fusion protein PIXY 321. Neoplastic plasma cells were highly purified (> 90%) by immunomagnetic dep...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb05115.x
更新日期:1994-12-01 00:00:00
abstract::Leukaemic stem cells (LSC) have been experimentally defined as the leukaemia-propagating population and are thought to be the cellular reservoir of relapse in acute myeloid leukaemia (AML). Therefore, LSC measurements are warranted to facilitate accurate risk stratification. Previously, we published the composition of...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2020-09-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1981.tb02682.x
更新日期:1981-04-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.05325.x
更新日期:2005-02-01 00:00:00
abstract::A patient with advanced myeloid metaplasia was treated with alpha-interferon (29 months) with a remarkable response. He had anaemia, thrombocytopenia and hepatosplenomegaly with infarction. The initial bone marrow showed replacement with fibrosis with no evident haemopoietic cells. Post-therapy, the patient became asy...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb04802.x
更新日期:1994-03-01 00:00:00
abstract::Endothelial progenitor cells (EPCs) were recently demonstrated to exist in human cord blood. Phytohaemagglutinin (PHA), a potent mitogen for mononuclear cells was used to induce EPCs from unsorted cord blood mononuclear cells (CBMCs). Adherent cells in clusters appeared approximately 24 h after CBMCs were cultured in ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.02694.x
更新日期:2001-06-01 00:00:00