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 |
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 |
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 |
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 |
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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
New JAK2-inhibitors are not clearly useful in ET and hence not approved for ET.
|
30925843 |
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 |
A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway.
|
30558676 |
2018 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of JAK2 V617F mutations is higher than 95% in PV, 50%-75% in ET and 40%-75% in PMF.
|
30502850 |
2018 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
For ET, overall survival is comparable between patients with JAK2 and either type 1-like and type 2-like CALR mutations.
|
30074114 |
2018 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among these genetic variations, Philadelphia-negative gain-of-function mutation in the janus kinase 2 (JAK2) protein leads to overexpression of the genes involved in cell growth and proliferation, and has been linked to development of hematological malignancies, specifically, myeloproliferative neoplasms (MPNs; essential thrombocythemia [ET], polycythemia vera [PV], and primary myelofibrosis).
|
30056970 |
2018 |
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Because of the low incidence of JAK2 mutation in acute myeloid leukemia (AML), the clinical features of AML with JAK2 mutation are rarely reported so far, either transformed from essential thrombocythemia (ET) or de novo AML.
|
29979407 |
2018 |