Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
|
31697803 |
2020 |
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
Somatic mutations of calreticulin (CALR) have been described in approximately 60-80% of JAK2 and MPL unmutated Essential Thrombocythemia and Primary Myelofibrosis patients.
|
31332222 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To make a definite diagnosis of essential thrombocytosis (ET) from reactive thrombocytosis (RT), the most reliable criteria are the presence of driver mutations, namely JAK2, CALR, or MPL gene mutations.
|
31479555 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The current study describes rare cases of SAH accompanied by ischemic stroke secondary to ET along with a review of the current literature, implying specific mechanisms for cerebral artery disorders associated with JAK2 V617F mutation.
|
31049728 |
2019 |
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
Calreticulin (CALR) mutation was identified as a recurrent mutation in about 60% to 88% of JAK2/MPL-negative PMF and ET.
|
31478923 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients.
|
31123683 |
2019 |
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this study, we analyzed data of 136 patients diagnosed with JAK2-positive ET observed for a median time of 9 years.
|
31449697 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a medically-refractory case of CVST in a 35-year-old woman later found to have JAK2 mutation and essential thrombocytosis.
|
30635218 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One hundred five Philadelphia-negative MPN patients, including polycythemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF) were initially screened for JAK2 mutations by amplification-refractory mutation system (ARMS-PCR) methodology and were further subjected to detection of CALR gene mutations by our in-house assay, a PCR based amplicon length differentiation assay (PCR-ALDA).
|
31248375 |
2019 |
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
New JAK2-inhibitors are not clearly useful in ET and hence not approved for ET.
|
30925843 |
2019 |
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
Subsequently, the patient was diagnosed with ET because the platelet count gradually increased to 50.0×10<sup>4</sup>/μL, and <i>JAK2 V617F</i> mutation was identified.
|
31272993 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
With regard to the JAK2 mutational status (analyzed in ET and MF only), no upregulation of the HRR was detected.
|
31748924 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin (CALR) exon 9 frameshift mutations have recently been identified in 30-40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) without JAK2 or MPL mutations.
|
30080988 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin (CALR) mutations are detected in the majority of JAK2 wild type patients with essential thrombocythemia (ET).
|
31250082 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs.
|
31689837 |
2019 |
Thrombocythemia, Essential
|
0.800 |
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 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed Sanger sequencing of exon 9 of CALR gene in blood samples obtained from 33 Moroccan patients with ET or PMF non-mutated for JAK2.
|
28340692 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Risk of thrombosis is higher in JAK2-mutated ET.
|
30281843 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In essential thrombocythaemia (ET), the patients with the JAK2 V617F mutation presented more leucocytes and neutrophils than patients who presented the CALR mutation, who had more platelets and a greater need for cytoreductive therapy.
|
30971335 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV).
|
31697804 |
2019 |
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, for essential thrombocythemia (ET), female gender or JAK2 positive, there is a significant increased risk to those carrying at least one variant allele for CASP9.
|
29542026 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We found that ASXL1 or EZH2 mutation acquisition after JAK2 leads to PV, while ASXL1 mutation acquisition before JAK2 leads to ET or PMF.
|
31704857 |
2019 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Compared to JAK2-mutated ET patients, CALR-mutated ET patients were younger, showed lower WBC counts, lower hemoglobin levels, higher platelet counts, and fewer thrombotic events.
|
29464483 |
2018 |
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
BEFREE |
A 41-year-old man was admitted because of headache, and diagnosed as JAK2-negative ET.
|
29617043 |
2018 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Quantitative assessment of JAK2 and CALR mutations was performed on diagnostic DNA samples from 425 essential thrombocythemia (ET) and 227 primary myelofibrosis patients using real-time quantitative PCR and fragment length analysis.
|
29306106 |
2018 |