New mutations and pathogenesis of myeloproliferative neoplasms

How I treat myelofibrosis

(2011) A. Tefferi   BLOOD

JAK2V617F-Mediated Phosphorylation of PRMT5 Downregulates Its Methyltransferase Activity and Promotes Myeloproliferation

(2011) Fan Liu et al.   CANCER CELL

Tet1 and Tet2 Regulate 5-Hydroxymethylcytosine Production and Cell Lineage Specification in Mouse Embryonic Stem Cells

(2011) Kian Peng Koh et al.   Cell Stem Cell

Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms

(2011) D. Pietra et al.   HAEMATOLOGICA

Extent of hematopoietic involvement by TET2 mutations in JAK2V617F polycythemia vera

(2011) S. I. Swierczek et al.   HAEMATOLOGICA

Janus-Activated Kinase 2 Inhibitors: A New Era of Targeted Therapies Providing Significant Clinical Benefit for Philadelphia Chromosome–Negative Myeloproliferative Neoplasms

(2011) Srdan Verstovsek   JOURNAL OF CLINICAL ONCOLOGY

Myeloproliferative Neoplasms: Molecular Pathophysiology, Essential Clinical Understanding, and Treatment Strategies

(2011) Ayalew Tefferi et al.   JOURNAL OF CLINICAL ONCOLOGY

p53 Lesions in Leukemic Transformation

(2011) Ashot Harutyunyan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human thrombopoietin knockin mice efficiently support human hematopoiesis in vivo

(2011) A. Rongvaux et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations of the TET2 and CBL genes: novel molecular markers in myeloid malignancies

(2010) Ulrike Bacher et al.   ANNALS OF HEMATOLOGY

The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms

(2010) A. V. Jones et al.   BLOOD

IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status

(2010) S. Schnittger et al.   BLOOD

Independently acquired biallelic JAK2 mutations are present in a minority of patients with essential thrombocythemia

(2010) P. A. Beer et al.   BLOOD

Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms

(2010) F. X. Schaub et al.   BLOOD

Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms

(2010) S. T. Oh et al.   BLOOD

Hereditary thrombocytosis not as innocent as thought? Development into acute leukemia and myelofibrosis

(2010) H. L. A. Posthuma et al.   BLOOD

Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value

(2010) S. Abbas et al.   BLOOD

Depletion of L3MBTL1 promotes the erythroid differentiation of human hematopoietic progenitor cells: possible role in 20q- polycythemia vera

(2010) F. Perna et al.   BLOOD

How I treat essential thrombocythemia

(2010) P. A. Beer et al.   BLOOD

Myeloproliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice

(2010) C. Marty et al.   BLOOD

Sequential treatment of CD34+ cells from patients with primary myelofibrosis with chromatin-modifying agents eliminate JAK2V617F-positive NOD/SCID marrow repopulating cells

(2010) X. Wang et al.   BLOOD

Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease

(2010) H. Akada et al.   BLOOD

JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia

(2010) J. Li et al.   BLOOD

Expression level and differential JAK2-V617F-binding of the adaptor protein Lnk regulates JAK2-mediated signals in myeloproliferative neoplasms

(2010) F. Baran-Marszak et al.   BLOOD

Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome-negative myeloproliferative neoplasms

(2010) N. H. Thoennissen et al.   BLOOD

Clinical utility of routineMPLexon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis

(2010) Elaine M. Boyd et al.   BRITISH JOURNAL OF HAEMATOLOGY

Distinct Clinical Phenotypes Associated with JAK2V617F Reflect Differential STAT1 Signaling

(2010) Edwin Chen et al.   CANCER CELL

Leukemic IDH1 and IDH2 Mutations Result in a Hypermethylation Phenotype, Disrupt TET2 Function, and Impair Hematopoietic Differentiation

(2010) Maria E. Figueroa et al.   CANCER CELL

Physiological Jak2V617F Expression Causes a Lethal Myeloproliferative Neoplasm with Differential Effects on Hematopoietic Stem and Progenitor Cells

(2010) Ann Mullally et al.   CANCER CELL

Myeloid Leukemia Development in c-Cbl RING Finger Mutant Mice Is Dependent on FLT3 Signaling

(2010) Chozhavendan Rathinam et al.   CANCER CELL

Genetic Analysis of Transforming Events That Convert Chronic Myeloproliferative Neoplasms to Leukemias

(2010) O. Abdel-Wahab et al.   CANCER RESEARCH

Cbl and Human Myeloid Neoplasms: The Cbl Oncogene Comes of Age: Figure 1.

(2010) Stephen C. Kales et al.   CANCER RESEARCH

Gain-of-functionc-CBLmutations associated with uniparental disomy of 11q in myeloid neoplasms

(2010) Seishi Ogawa et al.   CELL CYCLE

Polycomb Group Proteins: Multi-Faceted Regulators of Somatic Stem Cells and Cancer

(2010) Martin Sauvageau et al.   Cell Stem Cell

Molecular Pathogenesis of Philadelphia Chromosome Negative Chronic Myeloproliferative Neoplasms

(2010) R. Jager et al.   CURRENT CANCER DRUG TARGETS

“Benign erythrocytosis” and other familial and congenital polycythemias

(2010) Josef T. Prchal et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Disease burden at the progenitor level is a feature of primary myelofibrosis: a multivariable analysis of 164 JAK2 V617F-positive myeloproliferative neoplasm patients

(2010) Brady L. Stein et al.   EXPERIMENTAL HEMATOLOGY

The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms

(2010) D. Olcaydu et al.   HAEMATOLOGICA

Molecular mechanisms associated with leukemic transformation of MPL-mutant myeloproliferative neoplasms

(2010) P. A. Beer et al.   HAEMATOLOGICA

Lnk constrains myeloproliferative diseases in mice

(2010) Alexey Bersenev et al.   JOURNAL OF CLINICAL INVESTIGATION

The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alteration

(2010) O Abdel-Wahab et al.   LEUKEMIA

IDH1 and IDH2 mutation analysis in chronic- and blast-phase myeloproliferative neoplasms

(2010) A Pardanani et al.   LEUKEMIA

LNK mutation studies in blast-phase myeloproliferative neoplasms and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations

(2010) A Pardanani et al.   LEUKEMIA

Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1

(2010) A Tefferi   LEUKEMIA

Clonal analysis of erythroid progenitors suggests that pegylated interferon α-2a treatment targets JAK2 V617F clones without affecting TET2 mutant cells

(2010) J-J Kiladjian et al.   LEUKEMIA

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

(2010) J Boultwood et al.   LEUKEMIA

Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies

(2010) H Makishima et al.   LEUKEMIA

Deletions of the transcription factor Ikaros in myeloproliferative neoplasms

(2010) R Jäger et al.   LEUKEMIA

Differential NOD/SCID mouse engraftment of peripheral blood CD34+ cells and JAK2V617F clones from patients with myeloproliferative neoplasms

(2010) Tsz-Kan Fung et al.   LEUKEMIA RESEARCH

Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2

(2010) Myunggon Ko et al.   NATURE

Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB

(2010) Johanna C. Scheuermann et al.   NATURE

Role of Tet proteins in 5mC to 5hmC conversion, ES-cell self-renewal and inner cell mass specification

(2010) Shinsuke Ito et al.   NATURE

Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia

(2010) Marc H. G. P. Raaijmakers et al.   NATURE

Selective chemical labeling reveals the genome-wide distribution of 5-hydroxymethylcytosine

(2010) Chun-Xiao Song et al.   NATURE BIOTECHNOLOGY

Deregulation of H3K27 methylation in cancer

(2010) Eva Martinez-Garcia et al.   NATURE GENETICS

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

(2010) Gorica Nikoloski et al.   NATURE GENETICS

Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

(2010) Ryan D Morin et al.   NATURE GENETICS

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

(2010) Thomas Ernst et al.   NATURE GENETICS

LNKMutations inJAK2Mutation–Negative Erythrocytosis

(2010) Terra L. Lasho et al.   NEW ENGLAND JOURNAL OF MEDICINE

Safety and Efficacy of INCB018424, a JAK1 and JAK2 Inhibitor, in Myelofibrosis

(2010) Srdan Verstovsek et al.   NEW ENGLAND JOURNAL OF MEDICINE

DNMT3AMutations in Acute Myeloid Leukemia

(2010) Timothy J. Ley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sensitive enzymatic quantification of 5-hydroxymethylcytosine in genomic DNA

(2010) Aleksandra Szwagierczak et al.   NUCLEIC ACIDS RESEARCH

Cancer-associated IDH mutations: biomarker and therapeutic opportunities

(2010) K E Yen et al.   ONCOGENE

JAK2 V617F Constitutive Activation Requires JH2 Residue F595: A Pseudokinase Domain Target for Specific Inhibitors

(2010) Alexandra Dusa et al.   PLoS One

Tissue Distribution of 5-Hydroxymethylcytosine and Search for Active Demethylation Intermediates

(2010) Daniel Globisch et al.   PLoS One

Regulation of hematopoietic stem cells by their mature progeny

(2010) C. A. de Graaf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rapidly fatal myeloproliferative disorders in mice with deletion of Casitas B-cell lymphoma (Cbl) and Cbl-b in hematopoietic stem cells

(2010) M. Naramura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IDH mutations in glioma and acute myeloid leukemia

(2010) Lenny Dang et al.   TRENDS IN MOLECULAR MEDICINE

AML1/RUNX1 point mutation possibly promotes leukemic transformation in myeloproliferative neoplasms

(2009) Y. Ding et al.   BLOOD

Biclonal expansion and heterogeneous lineage involvement in a case of chronic myeloproliferative disease with concurrent MPLW515L/JAK2V617F mutation

(2009) K. Hussein et al.   BLOOD

Analysis of the Ten-Eleven Translocation 2 (TET2) gene in familial myeloproliferative neoplasms

(2009) C. Saint-Martin et al.   BLOOD

Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies

(2009) O. Abdel-Wahab et al.   BLOOD

In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm

(2009) J. R. Lambert et al.   BLOOD

Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor

(2009) C. Pecquet et al.   BLOOD

Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia

(2009) C. L. Fisher et al.   BLOOD

Ubiquitination and degradation of the thrombopoietin receptor c-Mpl

(2009) S. J. Saur et al.   BLOOD

Cotreatment with panobinostat and JAK2 inhibitor TG101209 attenuates JAK2V617F levels and signaling and exerts synergistic cytotoxic effects against human myeloproliferative neoplastic cells

(2009) Y. Wang et al.   BLOOD

Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm

(2009) P. A. Beer et al.   BLOOD

Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms

(2009) F. H. Grand et al.   BLOOD

A new polycythaemia vera-associated SOCS3 SH2 mutant (SOCS3F136L) cannot regulate erythropoietin responses

(2009) Yvonne Suessmuth et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mutations of polycomb-associated geneASXL1in myelodysplastic syndromes and chronic myelomonocytic leukaemia

(2009) Véronique Gelsi-Boyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

The 2008 World Health Organization classification system for myeloproliferative neoplasms

(2009) Ayalew Tefferi et al.   CANCER

Correction of the Abnormal Trafficking of Primary Myelofibrosis CD34+ Cells by Treatment with Chromatin-Modifying Agents

(2009) X. Wang et al.   CANCER RESEARCH

Oxygenase Catalyzed 5-Methylcytosine Hydroxylation

(2009) Christoph Loenarz et al.   CHEMISTRY & BIOLOGY

Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice

(2009) C.L. Fisher et al.   DEVELOPMENTAL BIOLOGY

SOCS3 tyrosine phosphorylation as a potential bio-marker for myeloproliferative neoplasms associated with mutant JAK2 kinases

(2009) J. Elliott et al.   HAEMATOLOGICA

High-resolution single-nucleotide polymorphism array-profiling in myeloproliferative neoplasms identifies novel genomic aberrations

(2009) F. Stegelmann et al.   HAEMATOLOGICA

Molecular pathways mediating MDS/AML with focus on AML1/RUNX1 point mutations

(2009) Yuka Harada et al.   JOURNAL OF CELLULAR PHYSIOLOGY

An activating mutation in theCSF3Rgene induces a hereditary chronic neutrophilia

(2009) Isabelle Plo et al.   JOURNAL OF EXPERIMENTAL MEDICINE

SOCS3 inhibits TPO-stimulated, but not spontaneous, megakaryocytic growth in primary myelofibrosis

(2009) R Chaligné et al.   LEUKEMIA

Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias

(2009) L Couronné et al.   LEUKEMIA

Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates

(2009) A Tefferi et al.   LEUKEMIA

Mutations of ASXL1 gene in myeloproliferative neoplasms

(2009) N Carbuccia et al.   LEUKEMIA

TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis

(2009) A Tefferi et al.   LEUKEMIA

SOCS1 Links Cytokine Signaling to p53 and Senescence

(2009) Viviane Calabrese et al.   MOLECULAR CELL

JAK2 phosphorylates histone H3Y41 and excludes HP1α from chromatin

(2009) Mark A. Dawson et al.   NATURE

Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms

(2009) Masashi Sanada et al.   NATURE

A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms

(2009) Damla Olcaydu et al.   NATURE GENETICS

A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms

(2009) Outi Kilpivaara et al.   NATURE GENETICS

Acquired mutations in TET2 are common in myelodysplastic syndromes

(2009) Saskia M C Langemeijer et al.   NATURE GENETICS

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

(2009) Amy V Jones et al.   NATURE GENETICS

Mutation inTET2in Myeloid Cancers

(2009) François Delhommeau et al.   NEW ENGLAND JOURNAL OF MEDICINE

SOCS-mediated downregulation of mutant Jak2 (V617F, T875N and K539L) counteracts cytokine-independent signaling

(2009) S Haan et al.   ONCOGENE

A progenitor cell origin of myeloid malignancies

(2009) H. Haeno et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

JAK mutations in high-risk childhood acute lymphoblastic leukemia

(2009) C. G. Mullighan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1

(2009) M. Tahiliani et al.   SCIENCE

Janus kinases promote cell-surface expression and provoke autonomous signalling from routing-defective G-CSF receptors

(2008) Annemarie Meenhuis et al.   BIOCHEMICAL JOURNAL

The hematopoietic stem cell compartment of JAK2V617F-positive myeloproliferative disorders is a reflection of disease heterogeneity

(2008) C. James et al.   BLOOD

The JAK2V617F mutation can occur in a hematopoietic stem cell that exhibits no proliferative advantage: a case of human allogeneic transplantation

(2008) K. Van Pelt et al.   BLOOD

Transgenic expression of JAK2V617F causes myeloproliferative disorders in mice

(2008) S. Xing et al.   BLOOD

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort

(2008) P. A. Beer et al.   BLOOD

Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24 577 first-degree relatives of 11 039 patients with myeloproliferative neoplasms in Sweden

(2008) O. Landgren et al.   BLOOD

Activating mutations in human acute megakaryoblastic leukemia

(2008) S. Malinge et al.   BLOOD

Lnk adaptor protein down-regulates specific Kit-induced signaling pathways in primary mast cells

(2008) C. Simon et al.   BLOOD

Does primary myelofibrosis involve a defective stem cell niche? From concept to evidence

(2008) J.-J. Lataillade et al.   BLOOD

Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia

(2008) L. Kearney et al.   BLOOD

Selective Inhibition of JAK2-Driven Erythroid Differentiation of Polycythemia Vera Progenitors

(2008) Ifat Geron et al.   CANCER CELL

Efficacy of TG101348, a Selective JAK2 Inhibitor, in Treatment of a Murine Model of JAK2V617F-Induced Polycythemia Vera

(2008) Gerlinde Wernig et al.   CANCER CELL

Phenotypic variability within the JAK2 V617F-positive MPD: Roles of progenitor cell and neutrophil allele burdens

(2008) Alison R. Moliterno et al.   EXPERIMENTAL HEMATOLOGY

Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray

(2008) Norihiko Kawamata et al.   EXPERIMENTAL HEMATOLOGY

Methylation of the suppressor of cytokine signaling 3 gene (SOCS3) in myeloproliferative disorders

(2008) N. Fourouclas et al.   HAEMATOLOGICA

Epigenetic alteration of SOCS family members is a possible pathogenetic mechanism in JAK2 wild type myeloproliferative diseases

(2008) Luciana Teofili et al.   INTERNATIONAL JOURNAL OF CANCER

New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition

(2008) R Chaligné et al.   LEUKEMIA

SOCS2: inhibitor of JAK2V617F-mediated signal transduction

(2008) H Quentmeier et al.   LEUKEMIA

Mutations of the TP53 gene in acute myeloid leukemia are strongly associated with a complex aberrant karyotype

(2008) C Haferlach et al.   LEUKEMIA

JAK2V617F-positive polycythemia vera and Philadelphia chromosome-positive chronic myeloid leukemia: one patient with two distinct myeloproliferative disorders

(2008) N Cambier et al.   LEUKEMIA

Ikaros and acute leukemia

(2008) Charles Mullighan et al.   LEUKEMIA & LYMPHOMA

Roles of the EZH2 histone methyltransferase in cancer epigenetics

(2008) Jeffrey A. Simon et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Drosophila STAT is required for directly maintaining HP1 localization and heterochromatin stability

(2008) Song Shi et al.   NATURE CELL BIOLOGY

Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice

(2007) R. Tiedt et al.   BLOOD