|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis.
|
18160670 |
2008 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, when a patient presents with isolated thrombocytosis and a positive JAK2 V617F assay, particularly a young woman, the possibility of PV must always be considered because of plasma volume expansion.
|
29516275 |
2018 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated the JAK2 V617F, CALR and STAT5 activation status in patients with CML and thrombocytosis (CML-T) that mimicked ET, trying to identify a common mechanism for thrombocytosis in MPN.
|
26754830 |
2016 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Investigation for polycythaemia and thrombocytosis showed JAK2 positive myeloproliferative neoplasm.A diagnosis of AOP infarction is often missed or delayed because it is rare and presents with variable neurological symptoms.
|
29592977 |
2018 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the case of a patient with erythrocytosis and other signs of myeloproliferation, such as leukocytosis, thrombocytosis or splenomegaly, the diagnosis of polycythemia vera (PV) is likely, and I test serum erythropoietin and JAK2 mutations first.
|
22157736 |
2012 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this is the first case of ET caused by JAK2-T875N mutation with a family history of thrombocytosis and cerebral infarction.
|
31428969 |
2019 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Refractory anemia with ring sideroblasts (RARS-T) associated with marked thrombocytosis is a myelodysplastic/myeloproliferative neoplasm associated with both SF3B1 and JAK2 or MPL mutations.
|
24507814 |
2013 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
His postoperative management included the examination of his peripheral blood as well as bone marrow, which confirmed that the cause of his elevated platelet count was due to JAK2 V617F mutation that is treated by hydroxyurea and aspirin after being discharged from the hospital.
|
18534315 |
2008 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have identified 2 families with hereditary thrombocytosis presenting novel heterozygous germ-line mutations of JAK2.
|
24398328 |
2014 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Further investigations for intracoronary thrombus with no underlying atherosclerotic disease revealed positive Janus kinase 2 (JAK2) V617F gene mutation, and this was consistent with a diagnosis of ET with elevated platelet count.
|
22686448 |
2012 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis.
|
18059483 |
2008 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in sporadic MPD, have been shown to cause inherited thrombocytosis.
|
25195195 |
2014 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In light of the findings from previous reports, screening for the JAK2-V617F mutation should be considered for any Ph(+) CML patients with thrombocytosis, leukocytosis, or erythrocytosis at diagnosis and for patients who subsequently develop thrombocytosis, leukocytosis, or erythrocytosis during follow-up, even for CML patients in complete cytogenetic response and major molecular response.
|
23613267 |
2013 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The quantitative JAK2 V617F neutrophil allele burden does not correlate with thrombotic risk in essential thrombocytosis.
|
17507997 |
2007 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation.
|
20633767 |
2010 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases.
|
24399021 |
2013 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The observed biological difference in circulating granulocyte involvement by the JAK2 V617F clone necessitates a sensitive molecular assay for the diagnostic investigation of thrombocytosis.
|
16916724 |
2006 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thrombocytosis can be due to genetic alterations that affect either the intrinsic MPL signaling through gain-of-function (GOF) activity (<i>MPL, JAK2, CALR</i>) and loss-of-function (LOF) activity of negative regulators (<i>CBL, LNK</i>) or the extrinsic MPL signaling by <i>THPO</i> GOF mutations leading to increased TPO synthesis.
|
28955303 |
2017 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis.
|
19939582 |
2011 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Time free from cytoreduction was significantly shorter in CALR-mutated patients with essential thrombocythemia than in JAK2(V617F)-mutated ones (median time 5 years and 9.8 years, respectively; P=0.0002) and cytoreduction was usually necessary to control extreme thrombocytosis.
|
27175028 |
2016 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
MPL 515 and JAK2 mutation analysis in MDS presenting with a platelet count of more than 500 x 10(9)/l.
|
18040685 |
2008 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count.
|
17194663 |
2006 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These observations of our case raise two possibilities: either transient posttreatment thrombocythemia is a feature of AML with JAK2 V617F mutation, or this was a case of secondary AML.
|
29979407 |
2018 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis.
|
17145859 |
2006 |