|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for JAK2 V617F, while more than 35% of the individuals were JAK2 V617F-negative, confirming a high prevalence of this abnormality in MPNs, more frequently with a low mutated allele burden, similar to what has been reported in other Western countries, despite differences among methods used to detect this mutation.
|
22304488 |
2012 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
|
16293597 |
2006 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A JAK2 variant in addition to JAK2 V617F (n = 13) in myelofibrosis was associated with an increased cumulative risk of transformation into AML (P = .003).
|
30811597 |
2019 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A longitudinal study of the JAK2(V617F) mutation in myelofibrosis with myeloid metaplasia: analysis at two time points.
|
16531268 |
2006 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders.
|
16247455 |
2006 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway.
|
30558676 |
2018 |
|
rs77375493
|
|
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
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A recurrent specific JAK2 V617F mutation has been reported in bcr/abl-negative chronic myeloproliferative diseases (cMPD), including polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
|
18720212 |
2008 |
|
rs77375493
|
|
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
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A small but significantly increased proportion of Chinese had the JAK2(V617F) mutation but no difference in the frequency of haplotypes associated with PMF in whites.
|
22262778 |
2012 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A somatic activating mutation (V617F) in the JAK2 tyrosine kinase was recently discovered in the majority of patients with polycythemia vera (PV), and some with essential thrombocythemia (ET) and chronic idiopathic myelofibrosis.
|
17183644 |
2006 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A somatic mutation (V617F) resulting in enhanced JAK2 kinase activity can be frequently found in patients with serious myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia and primary myelofibrosis.
|
20205617 |
2010 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
A thorough investigation resulted in a final diagnosis of primary myelofibrosis associated with the V617F mutation in the JAK2 gene.
|
29368941 |
2018 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Abnormal expression of HMGA2 and CXCR4 in IM granulocytes was dependent on the presence and the mutational status of JAK2(V617F) mutation.
|
16990584 |
2007 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
About half of patients with myelofibrosis carry a gain-of-function mutation in the Janus kinase 2 gene (JAK2 V617F) that contributes to the pathophysiology of the disease.
|
20843246 |
2010 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases.
|
25912019 |
2015 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying the JAK2 V617F mutation were then diagnosed as having idiopathic myelofibrosis (n = 2) or polycythemia vera (n = 1), whereas in seven patients a MPD was not detected.
|
17059429 |
2007 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Allele-specific wild-type blocker quantitative PCR for highly sensitive detection of rare JAK2 p.V617F point mutation in primary myelofibrosis as an appropriate tool for the monitoring of molecular remission following therapy.
|
20354212 |
2010 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelofibrosis both in the presence and absence of JAK2(V617F).
|
20339092 |
2010 |
|
rs77375493
|
|
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
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
An acquired JAK2 (V617F)mutation has been found in myeloid cells from most patients with chronic idiopathic myelofibrosis (IM), but whether it occurs in a common myelo-lymphoid, rather than a myeloid-restricted, progenitor cell is still debated.
|
17296581 |
2007 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPDs), polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocytosis (ET).
|
16912229 |
2006 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
An activating mutation (V617F) in the pseudokinase domain of the Janus kinase (JAK)-2 tyrosine kinase has been described in 90% of patients with polycythemia vera (PV) and 50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (MF).
|
22583424 |
2012 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
An integral part of laboratory tests carried out in this disease group is detecting the presence of mutations in the Janus kinase 2 gene at position 617 (JAK2 V617F) and in the gene encoding for the receptor for thrombopoietin (myeloproliferative leukemia virus oncogene, MPL) found in approximately 60% of PMF patients.
|
29534592 |
2019 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
|
31697803 |
2020 |