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Article

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

5 May 2006

Abstract excerpt

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...

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Identifiers

PMID: 16675710
DOI: 10.1182/blood-2005-11-009605

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Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disordersPMID 16675710Read ↗

Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformationSemantic proximity Read ↗

<i>JAK2</i> (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disordersSemantic proximity Read ↗

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 hematopoiesisSemantic proximity Read ↗

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.Semantic proximity Read ↗

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