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Cited by 843Myeloproliferative Neoplasms: Diagnosis and TreatmentPlatelet Disorders and TreatmentsAcute Myeloid Leukemia Research

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Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders

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Jones, A. V.·2005·Blood
DOI 10.1182/blood-2005-03-1320
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Abstract

The analysis of rare chromosomal translocations in myeloproliferative disorders has highlighted the importance of aberrant tyrosine kinase signaling in the pathogenesis of these diseases. Here we have investigated samples from 679 patients and controls for the nonreceptor tyrosine kinase JAK2 V617F mutation. Of the 480 myeloproliferative disorder (MPD) samples, the proportion of positive cases per disease subtype was 30 (20%) of 152 for atypical or unclassified MPD, 2 of 134 (2%) for idiopathic hypereosinophilic syndrome, 58 of 72 (81%) for polycythemia vera, 24 of 59 (41%) essential thrombocythemia (ET), and 15 of 35 (43%) for idiopathic myelofibrosis. V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). Homozygosity for V617F was seen in 43% of mutant samples and was closely correlated with chromosome 9p uniparental disomy. Homozygosity was significantly less common in ET compared with other MPD subtypes. In 53 cases analyzed, the median level of PRV1 expression was significantly higher in V617F-positive cases compared with cases without the mutation. We conclude that V617F is widespread in MPDs. Detection of this acquired mutation is likely to have a major impact on the way patients with MPD are diagnosed, as well as serving as an obvious target for signal transduction therapy.

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Metadata

Authors
Jones, A. V.
Affiliations
Cornell University (US)
Corresponding author
Jones, A. V.
ORCID
Jones, A. V.
Venue
Blood
Publisher
American Society of Hematology
Published
2005-09-15
Volume
106
Issue
6
Pages
2162-2168
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
DOI
10.1182/blood-2005-03-1320
OpenAlex
W2126665281
Cited by
843
References
0
Citations by year
2026: 4 · 2025: 6 · 2024: 17 · 2023: 22 · 2022: 12 · 2021: 19 · 2020: 21 · 2019: 30 · 2018: 15 · 2017: 21 · 2016: 32 · 2015: 47 · 2014: 38 · 2013: 46 · 2012: 40
FWCI
43.05
Type
journal article
Language
en
Open access
Locations
  • Blood (publishedVersion)
  • PubMed (publishedVersion)
  • ePrints Soton (University of Southampton) (submittedVersion)
Topics
  • Health Sciences › Medicine › Hematology › Myeloproliferative Neoplasms: Diagnosis and Treatment
  • Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
  • Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Keywords
JAK2 V617F mutation, myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia, primary myelofibrosis, idiopathic hypereosinophilic syndrome, tyrosine kinase signaling, mutation prevalence
MeSH terms
Chronic Disease, Female, Homozygote, Humans, Male, Myeloproliferative Disorders, Protein-Tyrosine Kinases, Proto-Oncogene Proteins, Signal Transduction, Prevalence, Case-Control Studies, Molecular Epidemiology, Microsatellite Repeats, Mutation, Missense, Janus Kinase 2

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