Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Primary Myelofibrosis
|
1.000 |
CausalMutation
|
disease |
CGI |
|
|
|
Primary Myelofibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Primary Myelofibrosis
|
1.000 |
SomaticCausalMutation
|
disease |
ORPHANET |
|
|
|
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia vera, but is seen in only half those with essential thrombocythaemia and idiopathic myelofibrosis.
|
16325696 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three studies now report an amino acid substitution in the JAK2 kinase in most patients with polycythemia vera as well as in some cases of essential thrombocythemia and chronic idiopathic myelofibrosis.
|
15837617 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, five specific areas are discussed in detail: the role of the trephine biopsy, the disease entity prefibrotic myelofibrosis; the recently described Janus kinase 2 (JAK2) mutations; the leukaemogenicity of hydroxyurea (hydroxycarbamide); and lastly, the implications of the results of the Medical Research Council Primary Thrombocythaemia 1 study are explored.
|
16029444 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
|
15837627 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while some patients with other chronic myeloproliferative disorders such as idiopathic myelofibrosis (IMF) and essential thrombocytosis (ET) also express the JAK2 V617F mutation.
|
16210034 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers.
|
16197445 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients.
|
16210033 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the current study, mutation analysis for JAK2(V617F) was performed in peripheral blood mononuclear cells (PBMC) from 157 patients with myelofibrosis with myeloid metaplasia (MMM) including 117 with agnogenic (AMM), 22 with postpolycythaemic (PPMM), and 18 with post-thrombocythaemic (PTMM) myeloid metaplasia.
|
16225651 |
2005 |
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
|
15858187 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML.
|
15860661 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, we and others identified a single recurrent somatic activating mutation (JAK2V617F) in the Janus kinase 2 (JAK2) tyrosine kinase in the myeloproliferative disorders (MPDs) polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
|
16081687 |
2005 |
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
|
15781101 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We therefore analyzed the Janus kinase 2 (Jak2) DNA sequence, EEC growth, PRV-1 expression, and c-Mpl (myeloproliferative) levels in a cohort of 78 myeloproliferative disorder (MPD) patients (42 ET, 22 PV, and 14 IMF).
|
15985544 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
|
15781101 |
2005 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The JAK2 mutation was detected in 25 patients (46%); 12 of 26 patients with essential thrombocythemia (ET), 9 of 12 patients with polycyhtemia vera (PV), one of 7 patients with chronic idiopathic myelofibrosis (CIM) and one patient with unclassifiable MPD.
|
17249502 |
2006 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia.
|
16871275 |
2006 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large proportions of patients with essential thrombocythemia and idiopathic myelofibrosis, and less frequently in atypical myeloproliferative disorders (MPD).
|
17145859 |
2006 |
Primary Myelofibrosis
|
1.000 |
AlteredExpression
|
disease |
LHGDN |
Expression of TEL-JAK2 in primary human hematopoietic cells drives erythropoietin-independent erythropoiesis and induces myelofibrosis in vivo.
|
17077140 |
2006 |
Primary Myelofibrosis
|
1.000 |
AlteredExpression
|
disease |
LHGDN |
We conclude that the expression of matrix-modeling genes in cIMF is not influenced by the JAK2 mutation status but is predominantly related to the stage of disease.
|
16877349 |
2006 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Janus kinase 2 (V617F) mutation status, signal transducer and activator of transcription-3 phosphorylation and impaired neutrophil apoptosis in myelofibrosis with myeloid metaplasia.
|
16871275 |
2006 |