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Article

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

Blood - 27 Sept 2012

Godfrey Anna L, Chen Edwin, Pagano Francesca, Ortmann Christina A, Silber Yvonne, Bellosillo Beatriz, Guglielmelli Paola, Harrison Claire N, Reilly John T, Stegelmann Frank, Bijou Fontanet, Lippert Eric, McMullin Mary F, Boiron Jean-Michel, Döhner Konstanze, Vannucchi Alessandro M, Besses Carlos, Campbell Peter J, Green Anthony R

Abstract excerpt

Subclones homozygous for JAK2V617F are more common in polycythemia vera (PV) than essential thrombocythemia (ET), but their prevalence and significance remain unclear. The JAK2 mutation status of 6495 BFU-E, grown in low erythropoietin conditions, was determined in 77 patients with PV or ET. Homozygous-mutant colonies were common in patients with JAK2V617F-positive PV and were surprisingly prevalent in...

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Identifiers

PMID: 22898600
DOI: 10.1182/blood-2012-05-431791
PMCID: PMC3672970

Genes

JAK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone.PMID 22898600Read ↗

Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemiaSemantic proximity Read ↗

The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia veraSemantic proximity Read ↗

Clonal analyses reveal associations of JAK2V617F homozygosity with hematologic features, age and gender in polycythemia vera and essential thrombocythemia.Semantic proximity Read ↗

Hematopoietic clonal dominance, stem cell mutations, and evolutionary pattern of JAK2V617F allele burden in polycythemia vera.Semantic proximity Read ↗

JAK2V617F homozygosity drives a phenotypic switch in myeloproliferative neoplasms, but is insufficient to sustain disease.Semantic proximity Read ↗

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

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

An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms.Semantic proximity Read ↗

The JAK2V617F mutation in normal individuals takes place in differentiating cells.Semantic proximity Read ↗

Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders.Semantic proximity Read ↗

Phenotypic variability within the JAK2 V617F-positive MPD: roles of progenitor cell and neutrophil allele burdens.Semantic proximity Read ↗

The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients.Semantic proximity Read ↗

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