|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays.
|
23057517 |
2013 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV.
|
17183644 |
2006 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
In 6/11 RARS-T patients the allelic ratio of JAK2-V617F was above 50%, indicating the presence of cells homozygous for the mutation.
|
18166783 |
2008 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis.
|
21242185 |
2011 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
JAK2 and MPL mutations in myeloproliferative neoplasms.
|
18566540 |
2008 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, germ line JAK2 mutations were associated with polyclonal hereditary thrombocytosis and triple-negative MPNs.
|
27389715 |
2016 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The two patients who developed thrombocythemia during infancy were JAK2 V617F-negative.
|
18802948 |
2008 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
JAK2(V617F) was identified in 9 of 15 cases, including 7 of 9 with thrombocytosis (platelet count, >600 × 10(3)/μL [600 × 10(9)/L]) and 1 with 8% ring sideroblasts.
|
21350094 |
2011 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Therefore, JAK2 mutation screening holds the promise of a decisive diagnostic test in PV while being complementary to histology for the diagnosis of ET and PMF; the combination of molecular testing and histologic review should also facilitate diagnosis of ET associated with borderline thrombocytosis.
|
17488875 |
2007 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis.
|
20194893 |
2010 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis.
|
16990759 |
2006 |
|
Thrombocytosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, JAK2 mutation screening has now become a front-line diagnostic test in the evaluation of both "erythrocytosis" and thrombocytosis and the 2001 World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis have now been revised to incorporate JAK2V617F mutation screening.
|
18032973 |
2008 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.
|
19287382 |
2009 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
|
19287384 |
2009 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The identification of somatic calreticulin (CALR) mutations can be used to confirm the diagnosis of a myeloproliferative disorder in Philadelphia chromosome-negative, JAK2 and MPL wild type patients with thrombocytosis.
|
27114372 |
2016 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
KANK1-PDGFRB is a unique example of a thrombocythemia-associated oncogene that does not signal via JAK2.
|
21685469 |
2011 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
More studies are needed to prove the role of JAK2 in ineffective erythropoiesis, iron metabolism and thrombocytosis and to determine if using JAK2 inhibitors in thalassemic patients can be a potential therapeutic option.
|
22203487 |
2012 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
JAK2 617 HP is an adequate test in differential diagnosis for both erythrocytosis and thrombocytosis.
|
18575865 |
2008 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
We propose that JAK2 and MPL expression levels regulate megakaryocytic proliferation vs differentiation in both normal and pathological conditions, and that JAK2 chemical inhibitors could promote a paradoxical thrombocytosis when used at suboptimal doses.
|
25143485 |
2014 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Efficacy of the JAK2 inhibitor INCB16562 in a murine model of MPLW515L-induced thrombocytosis and myelofibrosis.
|
20154217 |
2010 |
|
Thrombocytosis
|
0.500 |
Biomarker
|
disease |
LHGDN |
JAK2 617 HP is an adequate test in differential diagnosis for both erythrocytosis and thrombocytosis.
|
18575865 |
2008 |