Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.

@article{Jones2005WidespreadOO,
  title={Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.},
  author={Amy Victoria Jones and Sebastian Kreil and Katerina Zoi and Katherine Waghorn and Claire Curtis and Lingyan Zhang and Joannah Score and Rachel Seear and Andrew Chase and Francis H. Grand and Helen E. White and Christine Zoi and Dimitris Loukopoulos and Evangelos Terpos and Elisavet-Christine Vervessou and Beate Schultheis and Michael Emig and Thomas Ernst and Eva Lengfelder and R{\"u}diger Hehlmann and Andreas Hochhaus and David Oscier and Richard T. Silver and Andreas Reiter and Nicholas C. P. Cross},
  journal={Blood},
  year={2005},
  volume={106 6},
  pages={
          2162-8
        }
}
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… 
Diagnostic assays for the JAK2 V617F mutation in chronic myeloproliferative disorders.
  • T. Greiner
  • Medicine, Biology
    American journal of clinical pathology
  • 2006
TLDR
The goal of this editorial is to discuss the development of diagnostic methods for the JAK2 V617F mutation, a unique valine to phenylalanine substitution at position 617 that results in proliferative advantages for hematopoietic precursors that are hypersensitive to cytokines.
Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders
Recently, a point mutation in the Janus kinase 2 gene (JAK2) was identified in several chronic myeloid disorders, most frequently in polycythemia vera (PV) (65–97%), essential thrombocythemia (ET)
Classification, diagnosis and management of myeloproliferative disorders in the JAK2V617F era.
  • A. Tefferi
  • Medicine, Biology
    Hematology. American Society of Hematology. Education Program
  • 2006
TLDR
There is now molecular justification for grouping PV, ET, and MF together in a distinct MPD category (i.e., classic, BCR-ABL(-) MPD) that is separate from chronic myeloid leukemia (CML), MDS, and atypical MPD.
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.
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
TLDR
It is reported here that JAK2V617F-associated disease is strongly associated with a specific constitutional Jak2 haplotype, designated 46/1, in all three disease entities compared to healthy controls and provides a model whereby a constitutional genetic factor is associated with an increased risk of acquiring a specific somatic mutation.
MPL W515L mutation in Chinese patients with myeloproliferative diseases
TLDR
It has been shown that MPL W515L mutations may contribute to the primary molecular pathogenesis of Chinese patients with ET and these mutations were not detected in patients of acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndromes, and CML.
JAK2V617F mutations in myeloid malignancies: single center experience.
TLDR
The results confirmed the diagnostic significance of JAK2V617F mutation in MPNs and supported the notion that patients with the mutation should be classified in a new entity of MPNs.
Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.
TLDR
It is concluded that acquired, transforming CBL mutations are a novel and widespread pathogenetic abnormality in morphologically related, clinically aggressive MPNs.
JAK2 V617F patients with essential thrombocythemia present with clinical features of polycythemia vera
TLDR
The data support the idea that JAK2 V617F mutation divides ET patients into two subtypes, with the V623F positive group showing phenotypic similar to that of PV.
Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation.
TLDR
It is found that RARS-T reveals a high frequency of JAK2 V617F mutation and likely constitutes another Jak2 mutation-associated form of CMPD.
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