Abstract:
:Polycythaemia vera (PV) patients have an overall comparatively favourable prognosis, but disease progression is very heterogeneous and life-threatening thrombosis and bleedings are frequent complications in untreated disease. Moreover, transformation to more severe secondary myelofibrosis and acute myeloid leukaemia can occur. The aim of this study was to identify gene mutations that could be used together with clinical data as prognostic markers to guide treatment decisions in PV patients. A well-characterized WHO-defined cohort of PV patients was used. Clinical data and blood values were evaluated and a myeloid sequencing panel was used to screen for additional mutations other than the diagnostic JAK2 V617F and JAK2 exon 12 mutations. In 78% of the PV patients, at least one mutation additional to JAK2 V617F was detected. Additional mutations in genes coding for epigenetic modifiers, like TET2, DNMT3A and ASXL1, were most frequent. When correlated to overall survival, mutations in ASXL1 were significantly associated with inferior survival. In an attempt to obtain prognostic guidance in a larger number of patients, the presence of ASXL1 mutations was combined with age and vascular complications prior to diagnosis. Based on these data we were able to define three risk groups that predicted survival.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Andréasson B,Pettersson H,Wasslavik C,Johansson P,Palmqvist L,Asp Jdoi
10.1111/bjh.16450subject
Has Abstractpub_date
2020-06-01 00:00:00pages
913-919issue
5eissn
0007-1048issn
1365-2141journal_volume
189pub_type
杂志文章abstract::The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type o...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1986.tb07526.x
更新日期:1986-07-01 00:00:00
abstract::In patients with sickle cell anaemia (SCA), concomitant glucose-6-phosphate dehydrogenase (G6PD) deficiency is usually described as having no effect and only occasionally as increasing severity. We analysed sequential clinical and biological data for the first 42 months of life in SCA patients diagnosed by neonatal sc...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.12590
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journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2014-05-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1983.tb02122.x
更新日期:1983-07-01 00:00:00
abstract::The influence of erythrocyte shape changes on the sedimentation rate was studied in vitro and in vivo. In vitro the highest sedimentation rate was observed with a slight degree of stomatocytosis (morphological index-0.3; i.e. one red cell out of three being a stomatocyte I). With increasing degrees of stomatocytosis t...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1989.tb00296.x
更新日期:1989-12-01 00:00:00
abstract::We report a Lancashire family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter. This mutation has been reported previously in Britain in one other affected family. The factor IX haplotype of these two unrelated patients was determined by PCR analysis of seven polymorphic sites wit...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1993.tb08667.x
更新日期:1993-09-01 00:00:00
abstract::Comparative genomic hybridization (CGH) was used to analyse 34 follicular lymphoma (FL) samples. 27 samples showed DNA sequence copy number changes of at least one genomic region (26 samples with at least one gain and nine with at least one loss). Some chromosomes or chromosomal regions were preferentially involved. T...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1997.d01-2140.x
更新日期:1997-04-01 00:00:00
abstract::To explore the potential efficacy of l-asparaginase treatment in acute myeloid leukaemia (AML) patients, we studied the in vitro resistance of French-American-British (FAB) subtypes of childhood AML to l-asparaginase using a methyl-thiazol-tetrazolium assay. We tested leukaemic cells obtained from 177 common acute lym...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04703.x
更新日期:2003-12-01 00:00:00
abstract::The use of 111Indium oxine as a platelet label for the performance of platelet life-span studies has been examined. Platelet life-span in normal subjects varied between 8 X 10 and 10 X 36 d. Patients with primary thrombocythaemia had clearly reduced platelet life-span whether or not they presented with vascular occlus...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1984.tb06115.x
更新日期:1984-12-01 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
doi:10.1111/j.1365-2141.2006.06486.x
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,评审
doi:10.1111/j.1365-2141.2012.09089.x
更新日期:2012-06-01 00:00:00
abstract::The number of novel therapies for the treatment of myeloma is rapidly increasing, as are the clinical trials evaluating them in combination with other novel and established therapies. Proteasome inhibitors, immunomodulatory agents and monoclonal antibodies are the most well known and studied classes of novel agents ta...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/bjh.15210
更新日期:2018-07-01 00:00:00
abstract::The presence of oestrogen receptors (ER) and type II oestrogen binding sites (type II EBS) have been investigated by a whole cell assay in seven cases of acute lymphoid leukaemia (ALL) and 16 cases of acute myeloid leukaemia (AML). ER were detected in 6/7 ALL patients with values ranging between 133 and 2268 sites/cel...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1990.tb07787.x
更新日期:1990-08-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.13786
更新日期:2016-01-01 00:00:00
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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
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2010.08384.x
更新日期:2010-09-01 00:00:00
abstract::In a phase II study, 12 patients with a myelodysplastic syndrome (MDS) and anaemia (nine transfusion-dependent) were treated with recombinant human erythropoietin (rHuEpo) to assess the therapeutic effect on erythropoiesis and on transfusion requirement. Patients with a low risk of developing acute leukaemia were incl...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:1991-08-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2008.07132.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
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abstract::During the 3 years 1984-86, 314 cases of multiple myeloma were diagnosed in the Health Care Region of Western Sweden. 180 of these cases were included in a clinical trial; 71 were notified to the trial but excluded; 49 cases were not reported to the trial; 14 were diagnosed post mortem. The crude incidence rate of mye...
journal_title:British journal of haematology
pub_type: 临床试验,杂志文章,随机对照试验
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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.1365-2141.1994.tb05128.x
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journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:1999-06-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::The World Health Organization (WHO) lymphoma classification recognises anaplastic large cell lymphoma (ALCL), angioimmunoblastic lymphoma (AIL) and peripheral T-cell lymphoma, unspecified (PTCU) as nodal mature T-cell lymphomas. Little is known about long-term outcome and prognostic factors of these diseases. A retros...
journal_title:British journal of haematology
pub_type: 杂志文章
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更新日期:2005-05-01 00:00:00
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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::Accumulating evidence indicates that a graft-vs.-myeloma effect (GVM) and its associated clinical remission of the disease can be induced by donor lymphocyte infusion in myeloma patients who have relapsed after allogeneic bone marrow transplantation. Although it is believed that GVM is induced by allospecific T cells,...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2001.02531.x
更新日期:2001-02-01 00:00:00
abstract::We report a case of indolent B-chronic lymphocytic leukaemia (B-CLL) in a stage A patient, treated for 10 years only by theophylline for bronchial asthma. As suggested by the spontaneous apoptosis in the patient's blood (10%), theophylline at 50 micrograms/ml increased spontaneous apoptosis after 72 h in culture by a ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb05225.x
更新日期:1995-08-01 00:00:00