|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
UNIPROT |
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
|
15793561 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93).
|
15858187 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
BEFREE |
In conclusion, JAK2(V617F) is a myeloid lineage-specific event, its incidence in MMM is significantly higher with an antecedent history of polycythaemia vera (PV), and its presence in AMM does not affect prognosis but is associated with PV-characteristic clinical features.
|
16225651 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation |
UNIPROT |
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
|
15858187 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
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 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
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 |
|
rs77375493
|
JAK2;INSL6
|
THROMBOCYTHEMIA 3
|
|
0.800 |
GeneticVariation |
UNIPROT |
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.
|
16325696 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates.
|
16225651 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93).
|
15858187 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM.
|
16293880 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes.
|
15860661 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders.
|
15781101 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
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 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
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 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders.
|
15781101 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
The recently described V617F mutation in the Janus kinase 2 (JAK2) gene allows defining subclasses of patients with myeloproliferative disorders based on the JAK2 genotype.
|
16081684 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL.
|
16330446 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation |
BEFREE |
An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloproliferative disorders was recently reported in multiple simultaneous publications.
|
16225651 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
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 |
|
rs77375493
|
JAK2;INSL6
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation |
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 |
|
rs77375493
|
JAK2;INSL6
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias.
|
16037387 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequency of V617F was 65 percent among patients with polycythemia vera (83 of 128), 57 percent among patients with idiopathic myelofibrosis (13 of 23), and 23 percent among patients with essential thrombocythemia (21 of 93).
|
15858187 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation |
BEFREE |
The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders.
|
15860661 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results suggest that JAK2 V617F-positive essential thrombocythaemia and polycythaemia vera form a biological continuum, with the degree of erythrocytosis determined by physiological or genetic modifiers.
|
16325696 |
2005 |
|
rs77375493
|
JAK2;INSL6
|
Thrombocythemia, Essential
|
|
0.100 |
GeneticVariation |
BEFREE |
Therefore, by necessity, any discussion of PV must take into consideration these companion myeloproliferative disorders, and since erythrocytosis is the single clinical feature that sets PV apart from IMF and ET, it is clear that the presence of the JAK2 V617F</span> mutation cannot by itself establish a diagnosis of PV.
|
16210034 |
2005 |