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rs77375493
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|
Idiopathic Hypereosinophilic Syndrome
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|
0.020 |
GeneticVariation
|
BEFREE |
Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation.
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15860661 |
2005 |
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rs77375493
|
|
Acute Megakaryocytic Leukemias
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|
0.020 |
GeneticVariation
|
BEFREE |
JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia.
|
16037387 |
2005 |
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rs77375493
|
|
Myeloid Metaplasia
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|
0.010 |
GeneticVariation
|
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 |
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rs77375493
|
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Septicemia
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|
0.010 |
GeneticVariation
|
BEFREE |
Our results suggest that the alterations in expression of the markers studied are due to the activation of the Jak/signal transducer and activator of transcription (STAT) pathway through exogenous stimuli (sepsis or G-CSF treatment), or endogenously through the JAK2-V617F mutation.
|
16081684 |
2005 |
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rs77375493
|
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Lymphoma
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|
0.010 |
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 |
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rs77375493
|
|
Childhood Lymphoma
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|
0.010 |
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 |
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rs77375493
|
|
Sepsis
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|
0.010 |
GeneticVariation
|
BEFREE |
Our results suggest that the alterations in expression of the markers studied are due to the activation of the Jak/signal transducer and activator of transcription (STAT) pathway through exogenous stimuli (sepsis or G-CSF treatment), or endogenously through the JAK2-V617F mutation.
|
16081684 |
2005 |
|
rs77375493
|
|
Adult Lymphoma
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|
0.010 |
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 |
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rs77375493
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Polycythemia Vera
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|
0.900 |
GeneticVariation
|
BEFREE |
Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2.
|
16293597 |
2006 |
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rs77375493
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|
Polycythemia Vera
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|
0.900 |
GeneticVariation
|
BEFREE |
Recently, it has been shown that an activating mutation of JAK2 (V617F) was at the origin of PV.
|
16684963 |
2006 |
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rs77375493
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Polycythemia Vera
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|
0.900 |
GeneticVariation
|
BEFREE |
The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome.
|
16825501 |
2006 |
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rs77375493
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Leukemia, Myelocytic, Acute
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|
0.900 |
GeneticVariation
|
BEFREE |
None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders.
|
16247455 |
2006 |
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rs77375493
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Polycythemia Vera
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|
0.900 |
GeneticVariation
|
BEFREE |
Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET.
|
16728702 |
2006 |
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rs77375493
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|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
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 |
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rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV.
|
16369984 |
2006 |
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rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
V617F-positive erythroid burst-forming units (BFU-Es) were more frequent in patients with PV compared with patients with ET (P = .022) and, strikingly, V617F-homozygous BFU-Es were detected in all 17 patients with PV, but in none of the patients with ET (P < .001).
|
16772604 |
2006 |
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rs77375493
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|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
JAK2 V617F-posit</span>ive ET/PV and CIMF should be distinguished from wild-type JAK2 ET, rare cases of PV, and CIMF, and should be evaluated during life-long follow-up.
|
16810614 |
2006 |
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rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Overall, the incidence of the JAK2 V617F mutation was 87% in PV, 67% in ET, and 66% in CIM.
|
16949922 |
2006 |
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rs77375493
|
|
Polycythemia Vera
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|
0.900 |
GeneticVariation
|
BEFREE |
We pay particular attention to the newly identified JAK2 V617F mutation in polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis and deal with disease heterogeneity and putative additional molecular mechanisms.
|
17131059 |
2006 |
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rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
All four samples were positive for JAK2 V617F, confirming the presence of a clonal hematopoietic disorder consistent with PV.
|
16827884 |
2006 |
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rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associated tyrosine kinase in patients with polycythemia vera (PV) and other BCR/ABL-negative myeloproliferative disorders prompted many groups around the world to examine diverse subsets of patients with myeloid diseases for the prevalence of the JAK2 V617F mutation and its clinical and pathological associations.
|
17194663 |
2006 |
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rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML).
|
16537803 |
2006 |
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rs77375493
|
|
Leukemia, Myelocytic, Acute
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|
0.900 |
GeneticVariation
|
BEFREE |
We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, MB-02, MUTZ-8, SET-2, UKE-1), 4/5 with histories of MPD/MDS.
|
16408098 |
2006 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, represent a "forme fruste of PV" consistent with early PV mimicking ET (JAK2 V617F trilinear MPD).
|
16810609 |
2006 |
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rs77375493
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|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
These data suggest that the JAK2(V617F) mutation may not provide a proliferative and/or survival advantage for the abnormal PV clone.
|
16757685 |
2006 |