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rs77375493
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Acute Chest Syndrome
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0.010 |
GeneticVariation
|
BEFREE |
We would like to report and review the relationship between ACS and polycythemia vera with JAK2 V617F mutation.
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26825737 |
2016 |
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rs77375493
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|
Idiopathic pulmonary arterial hypertension
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|
0.010 |
GeneticVariation
|
BEFREE |
Correlation analysis between JAK2 V617F allele burden and other parameters revealed: statistical significant correlation with age, HB, HCT, PLT, UA, LDH, and splenic diameter but insignificant correlation with WBCs and PAH.
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27468853 |
2016 |
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rs77375493
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Duodenal Cancer
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0.010 |
GeneticVariation
|
BEFREE |
This report presents a case of a JAK2 V617F mutation falsely identified as a duodenal cancer mutation via NGS.
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27956534 |
2016 |
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rs77375493
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Cirrhosis
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0.010 |
GeneticVariation
|
BEFREE |
The JAK2 V617F mutation was identified in six of 28 patients (21.4%) with idiopathic PVT or BCS and in eight of 45 patients (17.8%) with PVT or BCS secondary to a known prothrombotic factor, but in only one of 38 patients (2.6%) with PVT and cirrhosis (p=0.049).
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25698270 |
2015 |
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rs77375493
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Liver carcinoma
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|
0.010 |
GeneticVariation
|
BEFREE |
The authors describe the first report of a patient being safely transplanted with a liver from a donor who suffered from JAK2 V617F mutation-driven essential thrombocythaemia to a patient with a critical burden of hepatocellular carcinoma.
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25778631 |
2015 |
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rs77375493
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Eosinophilic disorder
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0.010 |
GeneticVariation
|
BEFREE |
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia.
|
26017288 |
2015 |
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rs77375493
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Hypereosinophilia
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0.010 |
GeneticVariation
|
BEFREE |
KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance.
|
26017288 |
2015 |
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rs77375493
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Eosinophilia
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0.010 |
GeneticVariation
|
BEFREE |
Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia.
|
26017288 |
2015 |
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rs77375493
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Erythromelalgia
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|
0.010 |
GeneticVariation
|
BEFREE |
At the time of erythromelalgia and MIAs, shortened platelet survival, an increase in the levels of the platelet activation markers β-thromboglobulin and platelet factor 4 and also in urinary thromboxane B2 were clearly indicative of the spontaneous in vivo platelet activation of constitutively JAK2(V617F)-activated thrombocythemic platelets.
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25116182 |
2015 |
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rs77375493
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Peripheral Vascular Diseases
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|
0.010 |
GeneticVariation
|
BEFREE |
Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disease.
|
25345590 |
2015 |
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rs77375493
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Subarachnoid Hemorrhage
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|
0.010 |
GeneticVariation
|
BEFREE |
We report the case of an untreated 32-year-old woman with a history of JAK2 V617F-positive ET with cerebellar and subarachnoid hemorrhages without evidence of sinus vein thrombosis.
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24582788 |
2015 |
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rs77375493
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anemia hemoglobin
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0.010 |
GeneticVariation
|
BEFREE |
In conclusion, platelet counts and splenomegaly were significant predictors for the transformation to post-PV MF, while anemia (hemoglobin levels <100 g/L) and age>65 years were significant predictors for poor prognosis of post-PV MF in Chinese PV patients with JAK2(V617F) or exon12 mutation.
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26370613 |
2015 |
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rs77375493
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Vascular Hemostatic Disorders
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|
0.010 |
GeneticVariation
|
BEFREE |
JAK2(V617F), the main mutation involved in MPN, is considered as a risk factor for thrombosis, although the direct link between the mutation and hemostatic disorders is not strictly established.
|
24951423 |
2014 |
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rs77375493
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Cranial nerve palsies
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0.010 |
GeneticVariation
|
BEFREE |
We report a 54-year-old man, affected by myeloproliferative neoplasm, JAK2 V617F-positive of 13 years duration, who acutely presented with a third cranial nerve palsy; neuroradiology documented a space-occupying lesion at the level of the sellar, upper clival and right parasellar regions, that was sub-totally removed with a trans-sphenoidal approach.
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24118374 |
2014 |
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rs77375493
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Blood Coagulation Disorders
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|
0.010 |
GeneticVariation
|
BEFREE |
Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendency combined with the accelerated formation of unstable clots, reminiscent of observations made in patients.
|
24951423 |
2014 |
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rs77375493
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Sarcoma, Myeloid
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|
0.010 |
GeneticVariation
|
BEFREE |
In addition, homozygous JAK2 V617F mutation was detected from the myeloid sarcoma specimen.
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24118374 |
2014 |
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rs77375493
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Susceptibility to viral and mycobacterial infection
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|
0.010 |
GeneticVariation
|
BEFREE |
We explored the phenotypic consequences of Stat1 deficiency on the effects of Janus kinase 2 (JAK2)-V617F in vivo by crossing mice expressing JAK2-V617F with Stat1 knockout mice.
|
24820309 |
2014 |
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rs77375493
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Miller Dieker syndrome
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|
0.010 |
GeneticVariation
|
BEFREE |
Recently published studies report a small percentage of patients with RARS-T. Sixty percent of these have JAK2 V617F mutation, which can suggest the coexistence of two pathological conditions (MDS and MPN).
|
24399021 |
2013 |
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rs77375493
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Coronary Arteriosclerosis
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|
0.010 |
GeneticVariation
|
BEFREE |
JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thrombocyte (P = 2 × 10(-16) ), and leucocyte (P = 4 × 10(-9) ) counts, and had 2·7-/2·5-fold risk of cancer (prevalent/incident), 44-/28-fold risk of haematological cancer, 221-/97-fold risk of myeloproliferative cancer, 2·2-/1·2-fold risk of ischaemic heart disease, and 3·1-/1·0-fold risk of venous thromboembolism.
|
23116358 |
2013 |
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rs77375493
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Refractory anemias
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|
0.010 |
GeneticVariation
|
BEFREE |
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.
|
23594705 |
2013 |
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rs77375493
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Myelodysplastic-Myeloproliferative Diseases
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|
0.010 |
GeneticVariation
|
BEFREE |
Previous studies have reported FLT3 mutation in as many as 9.2% of myeloproliferative neoplasms (MPNs) and myelodysplastic/myeloproliferative neoplasms (MDS/MPNs), as well as in chronic myelogenous leukemia, that are negative for the JAK2 V617F gene mutation; no FLT3 mutation has been found in JAK2-positive MPNs, suggesting that the mutations are mutually exclusive.
|
23846442 |
2013 |
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rs77375493
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|
Refractory anemia, without ringed sideroblasts, without excess blasts
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|
0.010 |
GeneticVariation
|
BEFREE |
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.
|
23594705 |
2013 |
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rs77375493
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Tumor Progression
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|
0.010 |
GeneticVariation
|
BEFREE |
A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression.
|
23558526 |
2013 |
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rs77375493
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Myocardial Ischemia
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|
0.010 |
GeneticVariation
|
BEFREE |
JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thrombocyte (P = 2 × 10(-16) ), and leucocyte (P = 4 × 10(-9) ) counts, and had 2·7-/2·5-fold risk of cancer (prevalent/incident), 44-/28-fold risk of haematological cancer, 221-/97-fold risk of myeloproliferative cancer, 2·2-/1·2-fold risk of ischaemic heart disease, and 3·1-/1·0-fold risk of venous thromboembolism.
|
23116358 |
2013 |
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rs77375493
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Hereditary spherocytosis
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|
0.010 |
GeneticVariation
|
BEFREE |
In contrast, the author describes here a novel case of PV confirmed at the molecular level in a patient with hereditary spherocytosis by the finding of a Jak2(V617F) mutation.
|
23588264 |
2013 |