Abstract:
:Massive genomic analyses have underscored the diversity of chronic lymphocytic leukaemia (CLL) between patients. Genetic heterogeneity of tumour clones within a patient may fuel tumour evolution. Several recurrently deregulated intra-cellular pathways are candidates for targeted therapies that are very promising and are dramatically changing clinical patients' perspectives. In this review we present an overview of the genetic and epigenetic features of CLL and their clinical and biological implications.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Ghamlouch H,Nguyen-Khac F,Bernard OAdoi
10.1111/bjh.14719subject
Has Abstractpub_date
2017-09-01 00:00:00pages
852-870issue
6eissn
0007-1048issn
1365-2141journal_volume
178pub_type
杂志文章,评审abstract::Lymphoproliferative diseases of large granular lymphocytes (LDGL) may arise from either CD3+ T cells or CD3- natural killer (NK) cells. LDGL with clonal proliferation of large granular lymphocytes (LGL) is defined as LGL leukaemia. The number of patients with NK-LGL leukaemia reported is limited and the pathogenesis o...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.01109.x
更新日期:1998-12-01 00:00:00
abstract::Guidelines for the use of polymerase chain reaction (PCR)-based assays to aid the diagnosis of invasive aspergillosis (IA) in high-risk haematology patients have not been formulated. We prospectively evaluated a nested PCR assay to detect Aspergillus in blood during 95 febrile neutropenic episodes, in patients with ha...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05887.x
更新日期:2006-02-01 00:00:00
abstract::Chronic ITP is due to antibody-induced destruction of platelets by the reticuloendothelial (RE) system. The role of complement in this process is unclear. We measured platelet-associated complement (PAC) components C3, C3bi, C4 and C9 in 16 patients with chronic ITP, in two of these patients prior to and after splenec...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1985.tb07477.x
更新日期:1985-08-01 00:00:00
abstract::Genome-wide association studies (GWAS) have shown that the 8q24 region harbours multiple independent cancer susceptibility loci, even though it is devoid of genes. Given that no GWAS data are currently available for multiple myeloma (MM), we tested the hypothesis that genetic variants in this region could play a role ...
journal_title:British journal of haematology
pub_type: 杂志文章,meta分析
doi:10.1111/j.1365-2141.2012.09047.x
更新日期:2012-05-01 00:00:00
abstract::Aspergillus terreus, a less common pathogen, appears to be an emerging cause of infection at our institution, the Medical University Hospital of Innsbruck. Thus the epidemiology and outcome of A. terreus infections over the past 10 years was assessed. We analysed 67 cases of proven invasive aspergillosis (IA) accordin...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05763.x
更新日期:2005-10-01 00:00:00
abstract::Cross-species Northern blot hybridization and radioimmunoassay have provided evidence for the expression of an erythropoietin (EPO)-like gene in the rainbow trout. The principal site of EPO-like mRNA and antigen expression in the adult trout appears to be the kidney which also acts as the major erythropoietic organ. T...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb03406.x
更新日期:1995-05-01 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::The number of granulocyte-macrophage clones formed in agar culture of bone marrow is dependent on levels of colony stimulating activity (CSA) a proposed in vivo haemopoietic regulator. A dose-response relationship for stimulation of human haemopoietic cells by CSA is demonstrated, which could be explained by threshold...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1977.tb00626.x
更新日期:1977-04-01 00:00:00
abstract::The recent advent of an improved commercial serum enzyme-linked immunosorbent assay (ELISA) for the detection of circulating galactomannan (GM), a major constituent of Aspergillus cell walls, has contributed to the diagnosis of invasive aspergillosis (IA) in many haematology and transplant centres. However, the optima...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.05140.x
更新日期:2004-09-01 00:00:00
abstract::Haematological characteristics have been compared in 29 subjects with heterozygous beta0 thalassaemia and in 33 subjects with heterozygous beta+ thalassaemia, identified by the type of sickle cell-beta thalassaemia among close relatives, in a Jamaican Negro population. Total haemoglobin, MCV and MCH were significantly...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1977.tb00636.x
更新日期:1977-06-01 00:00:00
abstract::We have determined the causative mutation in 12 cases of glucose-6-phosphate dehydrogenase deficiency associated with chronic non-spherocytic haemolytic anaemia. In 11 of them the mutation we found had been previously reported in unrelated individuals. These mutations comprise seven different missense mutations and a ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00763.x
更新日期:1998-06-01 00:00:00
abstract::Monocytes, lymphocytes and polymorphs were separated from the peripheral blood of normal human subjects. Ferritin concentrations were determined with antibodies to both human spleen and heart ferritins. The heart type ferritin concentration in monocytes was 38.4 +/- 21.6 fg/cell (mean +/- SD), in lymphocytes 8.6 +/- 6...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1983.tb01225.x
更新日期:1983-09-01 00:00:00
abstract::Chronic graft-versus-host disease (cGVHD) is a common complication following allogeneic haematopoietic cell transplantation (HCT). It is the leading cause of non-relapse mortality in transplant survivors and has a significant impact upon their functional status and quality of life. Despite significant advances being m...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2007.06652.x
更新日期:2007-07-01 00:00:00
abstract::A murine monoclonal IgM erythrocyte antibody appeared to have anti-P (anti-globoside) specificity. The antibody was a relatively weak cold agglutinin, but a strong haemolysin and its reactivity with red cells was markedly enhanced by enzyme treatment. This antibody was used to study the cell and tissue distribution of...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1986.tb07492.x
更新日期:1986-05-01 00:00:00
abstract::In the present study, we aimed to identify distinct structural and numerical chromosomal aberrations in peripheral blood B cells of patients with myeloma and monoclonal gammopathy of undetermined significance (MGUS), which reflect changes thought to occur at different stages of the disease process. Peripheral blood fr...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03529.x
更新日期:2002-06-01 00:00:00
abstract::The development of neutralising antibodies to factor VIII (FVIII) is a major complication of haemophilia A (HA) therapy. We aimed to construct an individual risk profile for the development of inhibitors in HA and started by screening for the causative mutation in our HA patient population. A total of 109 patients and...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2005.05737.x
更新日期:2005-10-01 00:00:00
abstract::Mastocytosis is a rare disease with varied presentation, myriad symptomatology and variable prognosis. Most patients present with cutaneous disease and mediator-related symptomatology with a small subset having systemic disease (systemic mastocytosis, SM). A subset of the latter develops synchronous or metachronous ha...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/bjh.16288
更新日期:2020-03-01 00:00:00
abstract::UK National External Quality Assessment Service surveys indicate continuing problems in malaria diagnosis: inaccurate calculation of parasitaemia or failure to estimate it altogether, difficulty distinguishing Plasmodium vivax from P. ovale, reporting malaria parasites when none were present and misidentification of P...
journal_title:British journal of haematology
pub_type: 信件,实务指引
doi:10.1111/bjh.12572
更新日期:2013-12-01 00:00:00
abstract::Highly purified and cloned preparations of interleukin-1 (IL-1) were found to antagonize the capacity of erythropoietin (Epo) to stimulate the proliferation of mouse spleen and bone marrow erythroid precursor cells (EPC) in culture. Cloned murine IL-1 and purified and cloned human IL-1 alpha and IL-1 beta were approxi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb02289.x
更新日期:1987-09-01 00:00:00
abstract::Myeloablative conditioning prior to allogeneic stem cell transplantation causes a rapid increase in transferrin saturation and potentially toxic non-transferrin-bound iron (NTBI) in plasma. We have studied the ability of repeatedly administered apotransferrin to maintain this iron in a transferrin-bound form. Twenty a...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2141.2006.06273.x
更新日期:2006-10-01 00:00:00
abstract::Fanconi anaemia (FA) is an autosomal recessive and X-linked disease characterized by severe genetic instability and increased incidence of cancer. One explanation for this instability may be the cellular hypersensitivity to oxidative stress leading to chromosomal breaks. This study explored the possible oxidative dama...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2008.07137.x
更新日期:2008-07-01 00:00:00
abstract::Very Late Antigen-4 (VLA-4, α4β1-integrin, ITGA4) orchestrates cell-cell and cell-endothelium adhesion. Given the proposed role of VLA-4 in sickle cell disease (SCD) pathophysiology, we evaluated the ability of the VLA-4 blocking antibody natalizumab to inhibit SCD blood cell adhesion. Natalizumab recognized surface V...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.14158
更新日期:2016-09-01 00:00:00
abstract::Site-specific deletions of the 5' part of the TAL1 gene (tal(d)) are among the most frequent non-random genetic abnormalities in T-cell acute lymphoblastic leukaemia (T-ALL). They are usually detected by PCR from DNA with several primer pairs or by Southern blot analysis. Since tal(d) lead to expression of a SIL-TAL1 ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.4833286.x
更新日期:1997-12-01 00:00:00
abstract::Splanchnic vein thrombosis (SVT) is one of the most important complications of myeloproliferative neoplasms (MPN). Although MPN are common causes of SVT, the pathophysiological mechanisms underlying this predisposition, their epidemiology and natural history are not fully understood. Studies have concentrated on the g...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/bjh.12461
更新日期:2013-09-01 00:00:00
abstract::In this population-based survey covering two geographically distinct UK regions, we evaluated the number of myeloma patients aged < or =65 years who have not undergone transplantation. The combined data from both of these regions showed that 57% of age-eligible patients were not transplanted. While early death and com...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.05340.x
更新日期:2005-02-01 00:00:00
abstract::The in vitro effects of a range of concentrations of cyclophosphamide, doxorubicin, actinomycin D, cytarabine and methotrexate on neutrophil phagocytosis of C. albicans was studied. The reduction in phagocytic index (PI) was inversely proportional to the dilution of the drug and there was some inhibition of phagocytos...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1976.tb01871.x
更新日期:1976-01-01 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::Twenty-six members of four generations of one family in which a man was diagnosed in 1961 as having von Willebrand's disease (vWD) have been studied. Subtype IIB vWD and autosomal dominant inheritance was identified in 19 individuals with bleeding signs varying in severity and frequency. The absence of high molecular ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1988.tb02406.x
更新日期:1988-08-01 00:00:00
abstract::We studied the activity and stage of chronic liver disease in 45 HCV-seropositive/HIV-seronegative patients with severe haemophilia followed for at least 10 years. HCV-RNA was detected in serum in 36 patients (80%) Viraemic cases were further analysed for HCV genotypes: 10 (28%) were infected by type 1a, 10 (28%) by t...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb05373.x
更新日期:1995-11-01 00:00:00
abstract::The routine methods for estimating erythrocyte size (volume and surface area) are not generally unbiased. Using geometric models introduces a bias determined by the ways in which real red blood corpuscles depart in size and shape from the simplistic ideal. Employing haematocrit and red corpuscle count to estimate mean...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb04739.x
更新日期:1994-02-01 00:00:00