JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone.

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Blood

• Publication date

  2012-09-27

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1182/BLOOD-2012-05-431791PMID 22898600PMCID PMC3672970
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling.

  2010cited by this paper
• Guideline for investigation and management of adults and children presenting with a thrombocytosis

  2010cited by this paper
• Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms.

  2010cited by this paper
• A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications

  2010cited by this paper
• JAK2V617F allele burden and thrombosis: a direct comparison in essential thrombocythemia and polycythemia vera.

  2009cited by this paper
• Mutation in TET2 in myeloid cancers.

  2009cited by this paper
• Clonal analysis of deletions on chromosome 20q and JAK2-V617F in MPD suggests that del20q acts independently and is not one of the predisposing mutations for JAK2-V617F.

  2009cited by this paper
• JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders.

  2008cited by this paper
• Inhibition of the Bcl-xL deamidation pathway in myeloproliferative disorders.

  2008cited by this paper
• Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations.

  2008cited by this paper
• Phenotypic variability within the JAK2 V617F-positive MPD: roles of progenitor cell and neutrophil allele burdens.

  2008cited by this paper
• Clinical correlates of JAK2V617F allele burden in essential thrombocythemia

  2007cited by this paper
• Extending Jak2V617F and MplW515 Mutation Analysis to Single Hematopoietic Colonies and B and T Lymphocytes

  2007cited by this paper
• Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice.

  2007cited by this paper
• Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia.

  2007cited by this paper
• The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera.

  2007cited by this paper
• JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

  2007cited by this paper
• Amendment to the guideline for diagnosis and investigation of polycythaemia/erythrocytosis

  2007cited by this paper
• Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia.

  2006cited by this paper
• JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis.

  2006cited by this paper
• Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.

  2005cited by this paper
• A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

  2005cited by this paper
• A gain-of-function mutation of JAK2 in myeloproliferative disorders.

  2005cited by this paper
• Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.

  2005cited by this paper
• A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

  2005cited by this paper
• X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis.

  2005cited by this paper

• The prevalence and associated factors of aspirin resistance in JAK2V617F-mutated essential thrombocythemia and polycythemia vera.

  2025cites this paper
• JAK2/JAK2V617F heterodimers activate STAT1 and AhR to promote thrombocytosis.

  2025cites this paper
• Frequency of JAK2V617F Mutation Zygosity and Impact on Disease Outcome in MPN Patients

  2025cites this paper
• JAK-STAT Signaling in Autoimmunity and Cancer

  2025cites this paper
• ANALYSIS OF THE CLINICAL EFFECTIVENESS OF USING THE CREATED COMBINED FIBRIN-BONE SCAFFOLD FOR THE RECONSTRUCTION OF BONE TISSUE DEFECTS OF THE JAWS.

  2024cites this paper
• JAK2V617F allele burden in polycythemia vera: burden of proof

  2023cites this paper
• EnvIRONment modifies polycythemia vera.

  2023cites this paper
• Life histories of myeloproliferative neoplasms inferred from phylogenies

  2022cites this paper
• Single-cell methods in myeloproliferative neoplasms - old questions, new technologies.

  2022cites this paper
• PD-1/PD-L1, MDSC Pathways, and Checkpoint Inhibitor Therapy in Ph(-) Myeloproliferative Neoplasm: A Review

  2022cites this paper
• Shared and distinct genetic etiologies for different types of clonal hematopoiesis

  2022cites this paper
• JAK2 in Myeloproliferative Neoplasms: Still a Protagonist

  2022cites this paper
• Persistence of myelofibrosis treated with ruxolitinib: biology and clinical implications

  2021cites this paper
• Murine Modeling of Myeloproliferative Neoplasms.

  2021cites this paper
• Frequency of Zygosity in Jak-2 Positive Patients with Polycythemia Vera-Pakistan’s Perspective

  2021cites this paper
• Conformation sensitive gel electrophoresis for the detection of calreticulin mutations in BCR‐ABL1‐negative myeloproliferative neoplasms

  2021cites this paper
• Targeting the JAK-STAT pathway in autoimmune diseases and cancers: a focus on molecular mechanisms and therapeutic potential.

  2021cites this paper
• Hematopoietic Stem Cell Heterogeneity Is Linked to the Initiation and Therapeutic Response of Myeloproliferative Neoplasms

  2021cites this paper
• The JAK2 mutation.

  2021cites this paper
• Bone marrow microenvironment of MPN cells.

  2021cites this paper
• Hematopoietic fitness of JAK2V617F myeloproliferative neoplasms is linked to clinical outcome

  2021cites this paper
• Genetics of Myeloproliferative Neoplasms.

  2021cites this paper
• Application of Single-Cell Approaches to Study Myeloproliferative Neoplasm Biology

  2021cites this paper
• Hematopoietic Stem Cell Heterogeneity Is Linked to the Initiation and Therapeutic Response of Myeloproliferative Neoplasms.

  2021cites this paper
• MPN: The Molecular Drivers of Disease Initiation, Progression and Transformation and their Effect on Treatment

  2020cites this paper
• Clonal Hematopoiesis and Mutations of Myeloproliferative Neoplasms

  2020cites this paper
• MPN patients with low mutant JAK2 allele burden show late expansion restricted to erythroid and megakaryocytic lineages.

  2020cites this paper
• Genomic heterogeneity in myeloproliferative neoplasms and applications to clinical practice.

  2020cites this paper
• Novel European Asiatic Clinical, Laboratory, Molecular and Pathobiological (2015-2020 CLMP) criteria for JAK2V617F trilinear polycythemia vera (PV), JAK2exon12 PV and JAK2V617F, CALR and MPL515 thrombocythemias: From Dameshek to Constantinescu-Vainchenker, Kralovics and Michiels

  2020influential citation
• Phylogenetic reconstruction of adult blood cancer reveals early origins and lifelong evolution.

  2020cites this paper
• Impact of JAK2V617F Mutational on Haematologic Features in Sudanese Patients with Essential Thrombocythemia and Thrombotic Risk Assessment

  2020cites this paper
• The Genetic Basis of Primary Myelofibrosis and Its Clinical Relevance

  2020influential citation
• Phylogenetic reconstruction of myeloproliferative neoplasm reveals very early origins and lifelong evolution

  2020cites this paper
• Change of PVSG-WHO Into The European Clinical Laboratory Molecular and Pathological (2019 CLMP) Criteria for Classification and Staging of JAK2, MPL and CALR Mutated Myeloproliferative Neoplasms: Bone Marrow Characteristics from Dameshek to Georgii, Thiele & Michiels

  2019influential citation
• Myeloproliferative neoplasms

  2019cites this paper
• Clonal approaches to understanding the impact of mutations on hematologic disease development.

  2019cites this paper
• Heterogeneity in myeloproliferative neoplasms: Causes and consequences.

  2019cites this paper
• Mutation Status in Myeloid Malignancies Informs Clinical Insight

  2019cites this paper
• SOHO State‐of‐the‐Art Update and Next Questions: MPN

  2018cites this paper
• MicroRNA-101 expression is associated with JAK2V617F activity and regulates JAK2/STAT5 signaling

  2018cites this paper
• Dysregulated iron metabolism in polycythemia vera: etiology and consequences

  2018cites this paper
• Sorted peripheral blood cells identify CALR mutations in B- and T-lymphocytes

  2018cites this paper
• Updates in Polycythemia Vera

  2018cites this paper
• After 10years of JAK2V617F: Disease biology and current management strategies in polycythaemia vera.

  2017influential citation
• Myeloproliferative neoplasms: from origins to outcomes.

  2017cites this paper
• Apparent ‘JAK2‐negative’ polycythaemia vera due to compound mutations in exon 14

  2017cites this paper
• Extension of 2016 World Health Organization (WHO) Classification into a New Set of Clinical, Laboratory, Molecular, and Pathological Criteria for the Diagnosis of Myeloproliferative Neoplasms: From Dameshek to Vainchenker, Green, and Kralovics

  2017cites this paper
• Myeloproliferative neoplasms: from origins to outcomes.

  2017cites this paper
• MYELOPROLIFERATIVE NEOPLASMS Diagnosis , risk strati fi cation , and response evaluation in classical myeloproliferative neoplasms

  2017cites this paper
• Myeloproliferative neoplasm stem cells.

  2017cites this paper
• Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.

  2017cites this paper
• Molecular determinants of pathogenesis and clinical phenotype in myeloproliferative neoplasms

  2017cites this paper
• BLVRB redox mutation defines heme degradation in a metabolic pathway of enhanced thrombopoiesis in humans.

  2016cites this paper
• Chronic Traumatic Encephalopathy: The Neuropathological Legacy of Traumatic Brain Injury.

  2016cites this paper
• Masked polycythaemia vera is genetically intermediate between JAK2V617F mutated essential thrombocythaemia and overt polycythaemia vera

  2016cites this paper
• How I treat essential thrombocythemia.

  2016cites this paper
• Characterization of CD34+ hematopoietic progenitor cells in JAK2V617F and CALR-mutated myeloproliferative neoplasms.

  2016cites this paper
• JAK2V617F-mutant vascular niche contributes to JAK2V617F clonal expansion in myeloproliferative neoplasms.

  2016cites this paper
• Underlying mechanisms of the JAK2V617F mutation in the pathogenesis of myeloproliferative neoplasms

  2016cites this paper
• STAT1 activation in association with JAK2 exon 12 mutations

  2016cites this paper
• 2016 WHO Clinical Molecular and Pathological Criteria for Classification and Staging of Myeloproliferative Neoplasms (MPN) Caused by MPN Driver Mutations in the JAK2, MPL and CALR Genes in the Context of New 2016 WHO Classification: Prognostic and Therapeutic Implications.

  2016cites this paper
• CHARACTERIZATION OF CD34+ HEMATOPOIETIC PROGENITOR CELLS

  2016cites this paper
• The Genetic Basis of Haematological Cancers: Tosi/The Genetic Basis of Haematological Cancers

  2016cites this paper
• Molecular genetics of the myeloproliferative neoplasms

  2016cites this paper
• JAK2 exon 12 mutant mice display isolated erythrocytosis and changes in iron metabolism favoring increased erythropoiesis.

  2016cites this paper
• Pathogenesis of Myeloproliferative Disorders.

  2016cites this paper
• Targeting glutamine metabolism in myeloproliferative neoplasms.

  2015cites this paper
• What Do Molecular Tests Add to Prognostic Stratification in MF: Is It Time to Add These to Our Clinical Practice?

  2015cites this paper
• Pathogenesis of Myeloproliferative Disorders Volume 11 of the Annual Review of Pathology: Mechanisms of Disease

  2015cites this paper
• Myeloproliferative and thrombotic burden and treatment outcome of thrombocythemia and polycythemia patients.

  2015cites this paper
• Mutations and long-term outcome of 217 young patients with essential thrombocythemia or early primary myelofibrosis

  2015cites this paper
• Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations.

  2015cites this paper
• Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F.

  2015cites this paper
• Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

  2015cites this paper
• Erythromelalgic Microvascular Disturbances, Major Thrombosis and Hemorrhagic Manifestations of Thrombocythemia in Patients with Essential Thrombocythemia and Polycythemia Vera: Therapeutic Implications

  2014cites this paper
• 2014 WHO Clinical Molecular and Pathological (WHO-CMP) Diagnostic Criteria for the Classification and Staging of Five Distinct JAK2, MPL and CALR Mutated Myeloproliferative Neoplasms

  2014cites this paper
• Use of the 46/1 haplotype to model JAK2V617F clonal architecture in PV patients: clonal evolution and impact of IFNα treatment

  2014cites this paper
• JAK2V617F promotes replication fork stalling with disease-restricted impairment of the intra-S checkpoint response

  2014cites this paper
• Nongenetic stochastic expansion of JAK2V617F-homozygous subclones in polycythemia vera?

  2014cites this paper
• JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease.

  2014influential citation
• sustain clonal expansion myeloproliferative neoplasms in a murine model , but is insufficient to-homozygosity drives a phenotypic switch between JAK 2 V 617

  2014influential citation
• Prevalence of JAK2 V617F Mutation and Serum Levels of Alkaline Phosphatase and Lactate Dehydrogenase in Chronic Myelogenous Leukemia

  2014cites this paper
• Prevalence of JAK2 V617F mutation in west algerian population with chronic myeloproliferative neoplasms: A multicenter study

  2014cites this paper
• CALR sur ADN et sur ARN par analyse de fragments

  2014cites this paper
• MYELOID NEOPLASIA JAK2 or CALR mutation status de fi nes subtypes of essential thrombocythemia with substantially different clinical course and outcomes

  2014cites this paper
• Hit the spleen, JAK!

  2014cites this paper
• JAK2V617F mutation and endogenous erythroid colony formation in patients with polycythaemia vera.

  2014cites this paper
• Clonal heterogeneity as a driver of disease variability in the evolution of myeloproliferative neoplasms.

  2014cites this paper
• JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes.

  2014cites this paper
• How does JAK2V617F contribute to the pathogenesis of myeloproliferative neoplasms?

  2014cites this paper
• BET protein inhibition shows efficacy against JAK2V617F-driven neoplasms

  2014cites this paper
• JAK 2 V 617 F-homozygosity drives a phenotypic switch between myeloproliferative neoplasms in a murine model , but is insufficient to sustain clonal expansion *

  2014influential citation
• Loss of Stat1 decreases megakaryopoiesis and favors erythropoiesis in a JAK2-V617F-driven mouse model of MPNs.

  2014cites this paper
• A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis.

  2014cites this paper
• JAK2V617F-positive Myeloproliferative Neoplasms : KI mouse models, Interferon-α therapy and clonal architecture

  2013cites this paper
• Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.

  2013cites this paper
• A role for reactive oxygen species in JAK2V617F myeloproliferative neoplasm progression

  2013cites this paper
• Signal Transduction in the Chronic Leukemias: Implications for Targeted Therapies

  2013cites this paper
• Clonal analyses reveal associations of JAK2V617F homozygosity with hematologic features, age and gender in polycythemia vera and essential thrombocythemia

  2013cites this paper
• Inherited predisposition to myeloproliferative neoplasms

  2013cites this paper