|
rs1057520016
|
|
Thrombocytosis
|
|
0.010 |
GeneticVariation
|
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 |
|
rs121913615
|
|
Thrombocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required.
|
26919114 |
2016 |
|
rs1317118140
|
|
Thrombocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.
|
30183354 |
2018 |
|
rs149698066
|
|
Thrombocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study, platelet transcriptome sequencing and extended thrombocytosis cohort analyses identified a single loss-of-function mutation (BLVRB(S111L)) causally associated with clonal and nonclonal disorders of enhanced platelet production.
|
27207795 |
2016 |
|
rs730882079
|
|
Thrombocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.
|
30183354 |
2018 |
|
rs754858730
|
|
Thrombocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.
|
30183354 |
2018 |
|
rs779957223
|
|
Thrombocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.
|
30183354 |
2018 |
|
rs782627671
|
|
Thrombocytosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.
|
30183354 |
2018 |
|
rs17292650
|
|
Thrombocytosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
The MPL Baltimore (Lys39Asn) mutation has been reported as a cause of thrombocytosis in 7% of African Americans.
|
23511495 |
2013 |
|
rs17292650
|
|
Thrombocytosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis.
|
15269348 |
2004 |
|
rs750046020
|
|
Thrombocytosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.
|
30183354 |
2018 |
|
rs750046020
|
|
Thrombocytosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
In a retroviral mouse model performed in Mpl<sup>-/-</sup> mice, MPL P106L could induce a thrombocytosis phenotype with high circulating THPO levels.
|
28034873 |
2016 |
|
rs750046020
|
|
Thrombocytosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
We assume that p.Pro106Leu is a frequent MPL mutation in the Arab population, leading to severe thrombocytosis in homozygotes and occasionally to mild thrombocytosis in heterozygotes.
|
19036112 |
2009 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In all of them (in 3 with JAK2 V617F mutation and 1 with CALR mutation), thrombocytosis was present at the time when complete cytogenetic response was documented.
|
29508552 |
2018 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thrombocytosis and STAT5 activation in CML-T are not consistently associated with CALR exon 9 or JAK2 V617F mutation.
|
26754830 |
2016 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV.
|
24820309 |
2014 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases.
|
24399021 |
2013 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
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 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
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 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms.
|
21350094 |
2011 |
|
rs77375493
|
|
Thrombocytosis
|
|
0.100 |
GeneticVariation
|
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 |