|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Expression of mutant CALR induces thrombocytosis in animal models, producing the phenotype of ET.
|
31848992 |
2020 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We performed a molecular evaluation combining next-generation sequencing with a myeloid panel and CALR allele burden measurement at diagnosis and during follow-up in a cohort of 45 patients with CALR-mutated essential thrombocythaemia.
|
31710700 |
2020 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Frameshifting mutations (-1/+2) of the calreticulin (CALR) gene are responsible for the development of essential thrombocythemia (ET) and primary myelofibrosis (PMF).
|
31471561 |
2020 |
|
Thrombocythemia, Essential
|
0.600 |
Biomarker
|
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we performed for the first time a manual and automated quantitative assessment of the CALR mutation load at protein level using CAL2, a recently developed CALR mutation specific monoclonal antibody, on a cohort of 117 patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) and compared the CALR protein mutation loads with the CALR mutation load values established by a molecular assay.
|
30606612 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
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
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Frameshift mutations in the calreticulin (CALR) gene are present in 30% of essential thrombocythemia and myelofibrosis patients.
|
30846848 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We present a case of a 61-year-old-man previously diagnosed with CALR-mutated ET, who develop acute myeloid leukemia.
|
30624802 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thirty-one JAK2V617F-negative PMF and ET were evaluated for CALR mutation status.
|
31478923 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in the calreticulin gene (<i>CALR</i>) are detected in approximately 70% of patients with essential thrombocythemia (ET) and primary or secondary myelofibrosis (MF), lacking the <i>JAK2</i> and <i>MPL</i> mutations.
|
30671215 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Herein, we present the first case in the literature, to our knowledge, of a 63-year old ethnic Korean man with essential thrombocythemia who was diagnosed with a novel +1-bp frameshift mutation in CALR, which was predicted to exhibit a type 2-like phenotype.
|
31626697 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
Biomarker
|
disease |
BEFREE |
In summary, loss of the KDEL motif and positively charged AAs in the C-terminus of CALR is insufficient for MPL binding and ET development.
|
30926777 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Triplex probe-based TaqMan qPCR is an accurate and sensitive method for screening ET or PMF patients with type I and II mutations in CALR.
|
30080988 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In this series, CAL2 allowed rapid and cost-efficient identification of CALR-mutated ET patients.
|
31250082 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CR rates were higher in CALR-mutated ET patients (56.5% vs 28.0%; P = .01), compared with those in subjects lacking a CALR mutation.
|
31515250 |
2019 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The calreticulin (CALR) exon 9 mutations are found in ∼30% of patients with essential thrombocythemia and primary myelofibrosis.
|
28676668 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The secondary objectives were to evaluate the accuracy of CALR mutation analysis by high-resolution melting (HRM) analysis and real-time polymerase chain reaction (PCR) compared with DNA sequencing and to compare clinical characteristics of CALR mutated and JAK2V617F mutated ET.
|
29521158 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate the consequences of heterozygous and homozygous CALR mutations and provide a powerful model for dissecting the pathogenesis of CALR-mutant ET and PMF.
|
29282219 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
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
|
0.600 |
Biomarker
|
disease |
BEFREE |
Description of recurrent genetic abnormalities in driver genes, including Janus Kinase 2 (JAK2), myeloproliferative leukemia and calreticulin, a better appreciation of the key diagnostic role of bone marrow features, results of large epidemiologic studies and a few but landmark controlled clinical trials produced in the last decade, all resulted in a reappraisal of the approach to polycythemia vera and essential thrombocythemia.
|
29194068 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Of particular importance, CALR mutations grant a favorable prognosis in ET and PMF, while ASXL1 mutations confer a poorer outcome.
|
30502850 |
2018 |
|
Thrombocythemia, Essential
|
0.600 |
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
|
0.600 |
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 |