Pathogenetic Role of JAK2 V617F Mutation in Chronic Myeloproliferative Disorders

@article{Hsu2007PathogeneticRO,
  title={Pathogenetic Role of JAK2 V617F Mutation in Chronic Myeloproliferative Disorders},
  author={H. C. Hsu},
  journal={Journal of the Chinese Medical Association},
  year={2007},
  volume={70},
  pages={89–93}
}
  • H. Hsu
  • Published 1 March 2007
  • Medicine, Biology
  • Journal of the Chinese Medical Association

Tables from this paper

The Role of JAK2 in Myeloproliferative Diseases Diagnosis
TLDR
The discovery of JAK2 mutations might be able to differentiate the types of polycythaemia vera, essential thrombocytemia, and primary myelofibrosis with malignant abnormalities, as well as revise the MPD diagnosis criteria.
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TLDR
A female patient of age 50 years, presented with hemiplegia, diplopia, and had a consistent rise in hemoglobin and hematocrit, and JAK2 mutation analysis was found to be negative, and a diagnosis of polycythemia vera was made.
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TLDR
The JAK‐2 V617F mutation is believed to underlie growth factor hypersensitivity displayed by haematopoietic progenitors in myeloproliferative disorders, but its frequency has been rarely determined in Taiwanese patients.
Prevalence of the frequency of JAK2 (V617F) mutation in different myeloproliferative disorders in Egyptian patients.
TLDR
The presence of JAK2 mutation (V617F) in Egyptian patients with myeloproliferative disorders referred to National Cancer institute, Cairo University is investigated and results are concordant with international published results.
Prevalence of JAK2 V617F mutation in west algerian population with chronic myeloproliferative neoplasms: A multicenter study
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Janus kinase 2 negative polycythemia vera
TLDR
The case and clinical course of a patient with PV and left hemiparesis who was JAK2V617-negative and underwent only phlebotomy with subsequent improvement of his neurological condition is reported.
Impact of JAK2 V617F Mutation on Hemogram Variation in Patients with Non-Reactive Elevated Platelet Counts
TLDR
JAK2 V617F mutation occurs frequently in patients with non-reactive elevated platelet counts, and has great impact on hemogram variation, including RBC counts, WBC Counts, platelet parameters and lineage hyperplasia, but not on platelets counts.
Kinetic Study of Human Full-Length Wild-Type JAK2 and V617F Mutant Proteins
TLDR
The kinetic parameters of both full-length proteins are similar revealing that the mutation does not affect JAK2 catalytic activity suggesting that it has a more complex role in the regu- lation of Jak2 activity.

References

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Chronic myeloproliferative disorders
TLDR
Compared to wild-type JAK2, the presence of JAK1 increased both PRV-1 protein and mRNA levels in murine myeloid cells and eliminated the V617F-induced increase in PRv-1 expression.
Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders.
TLDR
Two polymerase chain reaction-based methods for detection of the V617F mutation in the JAK2 gene promise to revolutionize the way these disorders are diagnosed and classified, and may in the future have implications for targeted therapeutics.
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TLDR
Genetic evidence and in vitro functional studies indicate that V617F gives hematopoietic precursors proliferative and survival advantages and a high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
Identification of an Acquired JAK2 Mutation in Polycythemia Vera*
TLDR
A gain-of-function mutation of JAK2 may explain the hypersensitivity of PV progenitor cells to growth factors and cytokines and is defined as a molecular defect of PV.
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.
TLDR
It is concluded that V617F is widespread in MPDs and 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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TLDR
The results demonstrate that the principal effect of expression of JAK2 V617F in hematopoietic stem/progenitor cells is expansion of the erythroid lineage through a Stat5-dependent, Src kinase-independent pathway.
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.
TLDR
JAK2V617F occurs in a high proportion of patients with Budd-Chiari Syndrome and is of use in the characterization of latent MPD in BCS, and was missed in a substantial number of subjects by using standard techniques.
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