|
Thrombocythemia, Essential
|
0.500 |
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
|
0.500 |
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
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In fact, exome sequencing revealed that most patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) lacking JAK2 or MPL mutations, harbor somatic insertion and/or deletion in exon 9 of CALR gene.
|
28340692 |
2019 |
|
Thrombocythemia, Essential
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical and Hematological Relevance of JAK2V617F, CALR, and MPL Mutations in Vietnamese Patients with Essential Thrombocythemia.
|
31554376 |
2019 |
|
Thrombocythemia, Essential
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
JAK2V617F, CALR, and MPL Mutations and Bone Marrow Histology in Patients with Essential Thrombocythaemia.
|
30404086 |
2018 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CALR or MPL are present as driving mutations in the majority of remaining ET and PMF patients.
|
30558676 |
2018 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Selected Parameters of Angiogenesis and the JAK2, CALR, and MPL Mutations in Patients With Essential Thrombocythemia.
|
29390868 |
2018 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We currently consider three major risk factors for thrombosis (history of thrombosis, JAK2/MPL mutations, and advanced age), in order to group ET patients into four risk categories: "very low risk" (absence of all three risk factors); "low risk" (presence of JAK2/MPL mutations); "intermediate-risk" (presence of advanced age); and "high-risk" (presence of thrombosis history or presence of both JAK2/MPL mutations and advanced age).
|
29321520 |
2018 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
|
28859041 |
2018 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes.
|
29047144 |
2018 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen.
|
27909216 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
In the current study of 183 consecutive patients with WHO-defined ET, the presence of grade 1 bone marrow (BM) fibrosis did not affect presenting clinical or laboratory features; in contrast, increased serum LDH at diagnosis was associated with leukocytosis (p = .002), thrombocytosis (p < .001), palpable splenomegaly (p = .03) and higher international prognostic score (IPSET) (p = .002); serum LDH did not correlate with BM fibrosis, JAK2/CALR/MPL or TET2/ASXL1 mutations.
|
28211153 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia.
|
27855276 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Subsequent genomic microarray single nucleotide polymorphism profiling revealed copy-neutral loss of heterozygosity of chromosome 1 p36.33-p34.2, a known molecular mechanism underlying fibrotic progression of MPL-mutated essential thrombocythemia.
|
28653329 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recently, calreticulin (CALR) mutations were discovered in ~30% JAK2/MPL-unmutated ET and primary myelofibrosis.
|
28415571 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recently, somatic mutations in the calreticulin gene (CALR) were detected in 56-88% of JAK2/MPL-negative patients affected by ET or PMF.
|
28031530 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Driver mutational status has not been shown to affect survival in ET whereas the presence of JAK2/MPL mutations has been associated with higher risk of arterial thrombosis and that of MPL with higher risk of fibrotic progression.
|
27991718 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the derivation of induced pluripotent stem cells (iPSCs) from an ET patient with a heterozygous MPL V501L mutation.
|
28395806 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Negative for JAK2V617F, CALR and MPL mutations (i.e. triple-negative), the patient was diagnosed as essential thrombocythaemia (ET) with abdominal aortic dissection and was treated with cytoreduction and antiplatelet drugs.
|
28503875 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin/MPL (CALR) is the second most frequent mutation and occurs in half of JAK2 and MPL wild-type patients with ET and PMF.
|
27067982 |
2016 |
|
Thrombocythemia, Essential
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical Manifestation of Calreticulin Gene Mutations in Essential Thrombocythemia without Janus Kinase 2 and MPL Mutations: A Chinese Cohort Clinical Study.
|
27453224 |
2016 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
CALR mutations are identified in about 30% of JAK2/MPL-unmutated myeloproliferative neoplasms (MPNs) including essential thrombocythemia (ET) and primary myelofibrosis.
|
27716741 |
2016 |