Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders.

Abstract:

:An acquired gain-of-function mutation in the Janus kinase 2 (JAK2-V617F) is frequently found in patients with myeloproliferative disorders (MPDs). To test the hypothesis that JAK2-V617F is the disease-initiating mutation, we examined whether all cells of clonal origin carry the JAK2-V617F mutation. Using allele-specific polymerase chain reaction (PCR) assays for the JAK2 mutation and for the X-chromosomal clonality markers IDS and MPP1, we found that the percentage of granulocytes and platelets with JAK2-V617F was often markedly lower than the percentage of clonal granulocytes determined by IDS or MPP1 clonality assays in female patients. Using deletions of chromosome 20q (del20q) as an autosomal, X-chromosome-independent clonality marker, we found a similar discrepancy between the percentage of cells carrying JAK2-V617F and del20q. Our results suggest that in a proportion of patients with MPDs, JAK2-V617F occurs on the background of clonal hematopoiesis caused by a somatic mutation in an as-yet-unknown gene.

journal_name

Blood

journal_title

Blood

authors

Kralovics R,Teo SS,Li S,Theocharides A,Buser AS,Tichelli A,Skoda RC

doi

10.1182/blood-2005-11-009605

subject

Has Abstract

pub_date

2006-08-15 00:00:00

pages

1377-80

issue

4

eissn

0006-4971

issn

1528-0020

pii

blood-2005-11-009605

journal_volume

108

pub_type

临床试验,杂志文章

相关文献

BLOOD文献大全
  • Increased lipid metabolism impairs NK cell function and mediates adaptation to the lymphoma environment.

    abstract::Natural killer (NK) cells play critical roles in protection against hematological malignancies but can acquire a dysfunctional state, which limits antitumor immunity. However, the underlying reasons for this impaired NK cell function remain to be uncovered. We found that NK cells in aggressive B-cell lymphoma underwen...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.2020005602

    authors: Kobayashi T,Lam PY,Jiang H,Bednarska K,Gloury R,Murigneux V,Tay J,Jacquelot N,Li R,Tuong ZK,Leggatt GR,Gandhi MK,Hill MM,Belz GT,Ngo S,Kallies A,Mattarollo SR

    更新日期:2020-12-24 00:00:00

  • Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients.

    abstract::Autoimmune lymphoproliferative syndrome (ALPS) caused by impaired FAS-mediated apoptosis of lymphocytes is characterized by lymphoproliferation, autoimmunity, but also an increased risk of invasive bacterial infection, notably following splenectomy. We surveyed a cohort of 100 ALPS patients (including 33 splenectomize...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-02-553834

    authors: Neven B,Bruneau J,Stolzenberg MC,Meyts I,Magerus-Chatinet A,Moens L,Lanzarotti N,Weller S,Amiranoff D,Florkin B,Bader-Meunier B,Leverger G,Ferster A,Chantrain C,Blanche S,Picard C,Molina TJ,Brousse N,Durandy A,Rizzi

    更新日期:2014-09-04 00:00:00

  • Thrombosis in primary myelofibrosis: incidence and risk factors.

    abstract::We assessed frequency and predictive factors for major cardiovascular (CV) events in 707 patients with primary myelofibrosis (PMF) followed in 4 European institutions. A total of 236 deaths (33%) were recorded for an overall mortality of 7.7% patient-years (pt-yr). Fatal and nonfatal thromboses were registered in 51 (...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2009-08-238956

    authors: Barbui T,Carobbio A,Cervantes F,Vannucchi AM,Guglielmelli P,Antonioli E,Alvarez-Larrán A,Rambaldi A,Finazzi G,Barosi G

    更新日期:2010-01-28 00:00:00

  • Circulating blood B cells in multiple myeloma: analysis and relationship to circulating clonal cells and clinical parameters in a cohort of patients entered on the Eastern Cooperative Oncology Group phase III E9486 clinical trial.

    abstract::Recent analyses of circulating blood B cells in myeloma have generated controversy concerning the exact levels of these cells and whether they may represent circulating clonal tumor B cells. Previous reports suggested that CD19+ B cells are markedly increased in myeloma patients and that this population shares clonoty...

    journal_title:Blood

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:

    authors: Kay NE,Leong T,Kyle RA,Greipp P,Billadeau D,Van Ness B,Bone N,Oken MM

    更新日期:1997-07-01 00:00:00

  • Human acute stem cell leukemia with multilineage differentiation potential via cascade activation of growth factor receptors.

    abstract::The morphologic, immunophenotypic, genotypic, genomic, and functional features of an undifferentiated acute leukemia with stem cell features are reported. At light and electron microscopy, the leukemic population was represented by primitive progenitor cells with no evidence of differentiation. The blasts were CD34(+)...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v99.12.4634

    authors: Testa U,Torelli GF,Riccioni R,Muta AO,Militi S,Annino L,Mariani G,Guarini A,Chiaretti S,Ritz J,Mandelli F,Peschle C,Foa R

    更新日期:2002-06-15 00:00:00

  • Inhibition of Akt signaling promotes the generation of superior tumor-reactive T cells for adoptive immunotherapy.

    abstract::Effective T-cell therapy against cancer is dependent on the formation of long-lived, stem cell-like T cells with the ability to self-renew and differentiate into potent effector cells. Here, we investigated the in vivo existence of stem cell-like antigen-specific T cells in allogeneic stem cell transplantation (allo-S...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-05-578583

    authors: van der Waart AB,van de Weem NM,Maas F,Kramer CS,Kester MG,Falkenburg JH,Schaap N,Jansen JH,van der Voort R,Gattinoni L,Hobo W,Dolstra H

    更新日期:2014-11-27 00:00:00

  • The quantity and duration of FcRgamma signals determine mast cell degranulation and survival.

    abstract::Immunoglobulin E (IgE) bound to multivalent antigen (Ag) elicits mast cell degranulation but not survival; on the contrary, IgE in the absence of Ag (IgE(-Ag)) induces survival only but not degranulation. Although these distinct responses are mediated through the same receptor, FcepsilonRI, the molecular mechanism gen...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2003-08-2944

    authors: Yamasaki S,Ishikawa E,Kohno M,Saito T

    更新日期:2004-04-15 00:00:00

  • The effect of cyclosporine A on infection of susceptible cells by human immunodeficiency virus type 1.

    abstract::The effect of cyclosporine A (CyA) on the ability of the human immunodeficiency virus type 1 (HIV-1) to infect the H-9 T-cell leukemic line, as well as interleukin-2 (IL-2)-grown human peripheral blood-derived lymphocytes, has been studied. Pretreatment of H-9 cells and human lymphocytes with CyA over 24 hours complet...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Wainberg MA,Dascal A,Blain N,Fitz-Gibbon L,Boulerice F,Numazaki K,Tremblay M

    更新日期:1988-12-01 00:00:00

  • Cytokine-induced selective expansion and maturation of erythroid versus myeloid progenitors from purified cord blood precursor cells.

    abstract::To study the role of different cytokine combinations on the proliferation and differentiation of highly purified primitive progenitor cells, a serum-free liquid culture system was used in combination with phenotypic and functional analysis of the cells produced in culture. CD34+ CD45RAlo CD71lo cells, purified from um...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Mayani H,Dragowska W,Lansdorp PM

    更新日期:1993-06-15 00:00:00

  • Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin.

    abstract::The switch from fetal to adult hemoglobin is incomplete; the residual fetal hemoglobin in adults is restricted to a subset of erythrocytes called F cells. F-cell levels are influenced by a sequence variant (C-->T) at position -158 upstream of the gamma-globin gene, termed the XmnI-Ggamma polymorphism. How the Ggamma-1...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2004-02-0527

    authors: Garner C,Silver N,Best S,Menzel S,Martin C,Spector TD,Thein SL

    更新日期:2004-10-01 00:00:00

  • Classical Hodgkin lymphoma is characterized by recurrent copy number gains of the short arm of chromosome 2.

    abstract::Hodgkin- and Reed-Sternberg (HRS) cells microdissected from 41 classical Hodgkin lymphomas (cHL) of 40 patients comprising 8 lymphocyte-rich (cHL-LR), 16 nodular sclerosis (cHL-NS), 15 mixed-cellularity (cHL-MC), and 2 lymphocyte-depletion (cHL-LD) subtypes were analyzed by comparative genomic hybridization for recurr...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v99.4.1381

    authors: Joos S,Menz CK,Wrobel G,Siebert R,Gesk S,Ohl S,Mechtersheimer G,Trümper L,Möller P,Lichter P,Barth TF

    更新日期:2002-02-15 00:00:00

  • MELK mediates the stability of EZH2 through site-specific phosphorylation in extranodal natural killer/T-cell lymphoma.

    abstract::Oncogenic EZH2 is overexpressed and extensively involved in the pathophysiology of different cancers including extranodal natural killer/T-cell lymphoma (NKTL). However, the mechanisms regarding EZH2 upregulation is poorly understood, and it still remains untargetable in NKTL. In this study, we examine EZH2 protein tu...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.2019000381

    authors: Li B,Yan J,Phyu T,Fan S,Chung TH,Mustafa N,Lin B,Wang L,Eichhorn PJA,Goh BC,Ng SB,Kappei D,Chng WJ

    更新日期:2019-12-05 00:00:00

  • Gemtuzumab ozogamicin for acute myeloid leukemia.

    abstract::On 1 September 2017, the US Food and Drug Administration (FDA) approved gemtuzumab ozogamicin (GO) for the treatment of adults with newly diagnosed CD33+ acute myeloid leukemia and for patients aged ≥2 years with CD33+ acute myeloid leukemia who have experienced a relapse or who have not responded to initial treatment...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2017-09-797712

    authors: Appelbaum FR,Bernstein ID

    更新日期:2017-11-30 00:00:00

  • 2',5'-Oligoadenylate-antisense chimeras cause RNase L to selectively degrade bcr/abl mRNA in chronic myelogenous leukemia cells.

    abstract::We report an RNA targeting strategy, which selectively degrades bcr/abl mRNA in chronic myelogenous leukemia (CML) cells. A 2', 5'-tetraadenylate activator (2-5A) of RNase L was chemically linked to oligonucleotide antisense directed against either the fusion site or against the translation start sequence in bcr/abl m...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Maran A,Waller CF,Paranjape JM,Li G,Xiao W,Zhang K,Kalaycio ME,Maitra RK,Lichtin AE,Brugger W,Torrence PF,Silverman RH

    更新日期:1998-12-01 00:00:00

  • Keratinocyte growth factor and androgen blockade work in concert to protect against conditioning regimen-induced thymic epithelial damage and enhance T-cell reconstitution after murine bone marrow transplantation.

    abstract::Myeloablative conditioning results in thymic epithelial cell (TEC) injury, slow T-cell reconstitution, and a high risk of opportunistic infections. Keratinocyte growth factor (KGF) stimulates TEC proliferation and, when given preconditioning, reduces TEC injury. Thymocytes and TECs express androgen receptors, and expo...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2008-01-136531

    authors: Kelly RM,Highfill SL,Panoskaltsis-Mortari A,Taylor PA,Boyd RL,Holländer GA,Blazar BR

    更新日期:2008-06-15 00:00:00

  • Transcription factor Gfi-1 induced by G-CSF is a negative regulator of CXCR4 in myeloid cells.

    abstract::The mechanisms underlying granulocyte-colony stimulating factor (G-CSF)-induced mobilization of granulocytic lineage cells from the bone marrow to the peripheral blood remain elusive. We provide evidence that the transcriptional repressor growth factor independence-1 (Gfi-1) is involved in G-CSF-induced mobilization o...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2007-03-081448

    authors: De La Luz Sierra M,Gasperini P,McCormick PJ,Zhu J,Tosato G

    更新日期:2007-10-01 00:00:00

  • Safety and immunologic effects of IL-15 administration in nonhuman primates.

    abstract::The administration of cytokines that modulate endogenous or transferred T-cell immunity could improve current approaches to clinical immunotherapy. Interleukin-2 (IL-2) is used most commonly for this purpose, but causes systemic toxicity and preferentially drives the expansion of CD4(+)CD25(+)Foxp3(+) regulatory T cel...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2008-12-189266

    authors: Berger C,Berger M,Hackman RC,Gough M,Elliott C,Jensen MC,Riddell SR

    更新日期:2009-09-17 00:00:00

  • Acute graft-versus-host disease: a bench-to-bedside update.

    abstract::Over the past 5 years, many novel approaches to early diagnosis, prevention, and treatment of acute graft-versus-host disease (aGVHD) have been translated from the bench to the bedside. In this review, we highlight recent discoveries in the context of current aGVHD care. The most significant innovations that have alre...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:10.1182/blood-2014-01-514786

    authors: Holtan SG,Pasquini M,Weisdorf DJ

    更新日期:2014-07-17 00:00:00

  • Coactivator function of RIP140 for NFkappaB/RelA-dependent cytokine gene expression.

    abstract::Inflammatory responses represent a hallmark of numerous pathologies including sepsis, bacterial infection, insulin resistance, and malign obesity. Here we describe an unexpected coactivator function for the nuclear receptor interacting protein 140 (RIP140) for nuclear factor kappaB (NFkappaB), a master transcriptional...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2007-11-121699

    authors: Zschiedrich I,Hardeland U,Krones-Herzig A,Berriel Diaz M,Vegiopoulos A,Müggenburg J,Sombroek D,Hofmann TG,Zawatzky R,Yu X,Gretz N,Christian M,White R,Parker MG,Herzig S

    更新日期:2008-07-15 00:00:00

  • Release of iron from phagocytosed Escherichia coli and uptake by neutrophil lactoferrin.

    abstract::Escherichia coli were labeled with 59Fe and then either treated with myeloperoxidase, H2O2, and chloride or opsonized and mixed with human neutrophils. The myeloperoxidase system at pH 7.4 caused release of most of the bacterial 59Fe. A similar result has been obtained by Rosen and Klebanoff (J Biol Chem 257:13731, 19...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Molloy AL,Winterbourn CC

    更新日期:1990-02-15 00:00:00

  • Cell-cycle-dependent regulation of erythropoietin receptor gene.

    abstract::To understand the regulatory mechanism of erythropoietin (EPO) receptor (EPOR) gene expression, the effect of EPO on the steady-state level of EPOR mRNA was examined using the human EPO-dependent cell line UT-7 as a model system. We found that the treatment of UT-7 cells with EPO resulted in a transient decrease of th...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Komatsu N,Kirito K,Kashii Y,Furukawa Y,Kikuchi J,Suwabe N,Yamamoto M,Miura Y

    更新日期:1997-02-15 00:00:00

  • Potential and distribution of transplanted hematopoietic stem cells in a nonablated mouse model.

    abstract::Increasingly, allogeneic and even more often autologous bone marrow transplants are being done to correct a wide variety of diseases. In addition, autologous marrow transplants potentially provide an opportune means of delivering genes in transfected, engrafting stem cells. However, despite its widespread clinical use...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Nilsson SK,Dooner MS,Tiarks CY,Weier HU,Quesenberry PJ

    更新日期:1997-06-01 00:00:00

  • Experimental Pseudomonas pneumonia in leukopenic dogs: comparison of therapy with antibiotics and granulocyte transfusions.

    abstract::Pseudomonas aeruginosa pneumonia was produced in dogs with radiation-induced leukopenia to study the comparative efficacy of several different therapies. In a randomized control trial, five treatment regimens were compared: no antibiotics or granulocytes (controls), gentamicin (5 mg/kg/day), carbenicillin (500 mg/kg/d...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Dale DC,Reynolds HY,Pennington JE,Elin RJ,Herzig GP

    更新日期:1976-05-01 00:00:00

  • Quantitative long-term culture-initiating cell assays require accessory cell depletion that can be achieved by CD34-enrichment or 5-fluorouracil exposure.

    abstract::Characterization of hematopoietic cells and measurement of their proliferative potential is critical in many research and clinical applications. Because in vivo assay of human cells is not possible and xenogeneic assays are not yet routine, in vitro assays such as the long-term culture-initiating cell (LTC-IC) assay h...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Koller MR,Manchel I,Smith AK

    更新日期:1998-06-01 00:00:00

  • Venous thrombosis risk associated with plasma hypofibrinolysis is explained by elevated plasma levels of TAFI and PAI-1.

    abstract::Elevated plasma clot lysis time (CLT) increases risk of venous and arterial thrombosis. It is unclear which fibrinolytic factors contribute to thrombosis risk. In 743 healthy control subjects we investigated determinants of CLT. By comparison with 770 thrombosis patients, we assessed plasma levels of fibrinolytic prot...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-02-267740

    authors: Meltzer ME,Lisman T,de Groot PG,Meijers JC,le Cessie S,Doggen CJ,Rosendaal FR

    更新日期:2010-07-08 00:00:00

  • Engraftment, clinical, and molecular follow-up of patients with multiple myeloma who were reinfused with highly purified CD34+ cells to support single or tandem high-dose chemotherapy.

    abstract::Eighty-two patients with advanced multiple myeloma (MM) were enrolled in 2 sequential clinical studies of 1 or 2 courses of myeloablative therapy with stem cell support. Conditioning regimens consisted of high-dose melphalan (MEL) with or without total body irradiation (TX1 = 35) and MEL as the first preparative regim...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Lemoli RM,Martinelli G,Zamagni E,Motta MR,Rizzi S,Terragna C,Rondelli R,Ronconi S,Curti A,Bonifazi F,Tura S,Cavo M

    更新日期:2000-04-01 00:00:00

  • HIV-specific effector cytotoxic T lymphocytes and HIV-producing cells colocalize in white pulps and germinal centers from infected patients.

    abstract::Human immunodeficiency virus (HIV) infection is characterized by the massive infiltration of secondary lymphoid organs with activated CD8(+) T lymphocytes. While converging data indicated that these cells were HIV-specific cytotoxic T lymphocytes (CTLs) responsible for HIV spread limitation, direct evidence was lackin...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v97.9.2695

    authors: Hosmalin A,Samri A,Dumaurier MJ,Dudoit Y,Oksenhendler E,Karmochkine M,Autran B,Wain-Hobson S,Cheynier R

    更新日期:2001-05-01 00:00:00

  • Definitive-like erythroid cells derived from human embryonic stem cells coexpress high levels of embryonic and fetal globins with little or no adult globin.

    abstract::Human embryonic stem cells are a promising tool to study events associated with the earliest ontogenetic stages of hematopoiesis. We describe the generation of erythroid cells from hES (H1) by subsequent processing of cells present at early and late stages of embryoid body (EB) differentiation. Kinetics of hematopoiet...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2005-11-011874

    authors: Chang KH,Nelson AM,Cao H,Wang L,Nakamoto B,Ware CB,Papayannopoulou T

    更新日期:2006-09-01 00:00:00

  • Monoclonal antibody 7G3 recognizes the N-terminal domain of the human interleukin-3 (IL-3) receptor alpha-chain and functions as a specific IL-3 receptor antagonist.

    abstract::The human interleukin-3 receptor (IL-3R) is expressed on myeloid, lymphoid, and vascular endothelial cells, where it transduces IL-3-dependent signals leading to cell activation. Although IL-3R activation may play a role in hematopoiesis and immunity, its aberrant expression or excessive stimulation may contribute to ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Sun Q,Woodcock JM,Rapoport A,Stomski FC,Korpelainen EI,Bagley CJ,Goodall GJ,Smith WB,Gamble JR,Vadas MA,Lopez AF

    更新日期:1996-01-01 00:00:00

  • Exogenous insulin-like growth factor 1 enhances thymopoiesis predominantly through thymic epithelial cell expansion.

    abstract::Insulin-like growth factor 1 (IGF-1) enhances thymopoiesis but given the broad distribution of IGF-1 receptors (IGF-1Rs), its mechanism of action has remained unclear. To identify points of thymic regulation by IGF-1, we examined its effects on T-cell precursors, thymocytes, and thymic epithelial cells (TECs) in norma...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2008-04-149435

    authors: Chu YW,Schmitz S,Choudhury B,Telford W,Kapoor V,Garfield S,Howe D,Gress RE

    更新日期:2008-10-01 00:00:00