|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The ability to simultaneously detect JAK2 V617F and MPL W515K/L mutations would substantially improve the early diagnosis of myeloproliferative neoplasms (MPNs) and decrease the risk of arterial thrombosis.
|
28819248 |
2017 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Somatic mutations of Janus kinase 2 (JAK2V617F), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) are the major clonal molecules that drive the pathogenesis of myeloproliferative neoplasms (MPN).
|
28625126 |
2017 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Taken together, our study provides a model showing that the C-terminal of mutant CALR activated JAK-STAT signaling specifically downstream of MPL and may have a central role in CALR-induced myeloproliferative neoplasms.
|
27807369 |
2017 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Molecular routine diagnostics for BCR-ABL1-negative myeloproliferative neoplasms (MPN) currently focusses on mutations in JAK2, CALR and MPL.
|
27447873 |
2016 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Somatic calreticulin (CALR), Janus kinase 2 (JAK2), and thrombopoietin receptor (MPL) mutations essentially show mutual exclusion in myeloproliferative neoplasms (MPN), suggesting that they activate common oncogenic pathways.
|
27177927 |
2016 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The 2008 WHO criteria for the diagnosis and classification of myeloproliferative neoplasms (MPN) rely in part upon the assessment of mutations in JAK2 and MPL genes.
|
27018326 |
2016 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Calreticulin (CALR) mutations are present in 50% to 85% of JAK2/MPL wild-type (wt) myeloproliferative neoplasms (MPNs).
|
27124925 |
2016 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
CALR mutations are identified in about 30% of JAK2/MPL-unmutated myeloproliferative neoplasms (MPNs) including essential thrombocythemia (ET) and primary myelofibrosis.
|
27716741 |
2016 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) represent typical myeloproliferative neoplasms (MPN), usually characterized by specific somatic driver mutations (JAK2 V617F, CALR and MPL).
|
27061303 |
2016 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Considering these results, we propose that mutant CALR promotes myeloproliferative neoplasm development by activating c-MPL and its downstream pathway.
|
26817954 |
2016 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
A Phenotypic Screen for Small-Molecule Inhibitors of Constitutively Active Mutant Thrombopoietin Receptor Implicated in Myeloproliferative Neoplasms.
|
27748177 |
2016 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
CALR, JAK2, and MPL mutation profiles in patients with four different subtypes of myeloproliferative neoplasms: primary myelofibrosis, essential thrombocythemia, polycythemia vera, and myeloproliferative neoplasm, unclassifiable.
|
25873496 |
2015 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations.
|
25746303 |
2015 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Somatic CALR exon 9 mutations have recently been identified in patients with JAK2/MPL-unmutated myeloproliferative neoplasm, and have become an important clonal marker for the diagnosis of essential thrombocythemia (ET) and primary myelofibrosis.
|
25447704 |
2015 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) constitute the BCR-ABL1-negative myeloproliferative neoplasms and are characterized by mutually exclusive Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations; respective frequencies of these mutations are approximately 95%, 0%, and 0% in PV, 60%, 20%, and 3% in ET, and 60%, 25%, and 7% in PMF.
|
26182311 |
2015 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized.
|
25849990 |
2015 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
CALR mutations screening in wild type JAK2(V617F) and MPL(W515K/L) Brazilian myeloproliferative neoplasm patients.
|
26227853 |
2015 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Concurrence of B-lymphoblastic leukemia and myeloproliferative neoplasm with copy neutral loss of heterozygosity at chromosome 1p harboring a MPL W515S mutation.
|
25453399 |
2015 |
|
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Fourteen samples from 10 patients with JAK2 and MPL wild-type myeloproliferative neoplasms were positive for CALR mutation.
|
26486738 |
2015 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The identification of JAK2/MPL mutations in patients with myeloproliferative neoplasms (MPN) has led to the clinical development of JAK kinase inhibitors, including ruxolitinib.
|
25572172 |
2015 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in JAK2, MPL and CALR are highly relevant to the Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs).
|
25023898 |
2014 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Genotyping for CALR mutations represents a novel useful tool for establishing a clonal myeloproliferative disorder in JAK2 and MPL wt patients with thrombocytosis and may have prognostic and therapeutic relevance.
|
24371211 |
2014 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Myeloproliferative neoplasms (MPNs) are stem cell-derived clonal myeloid malignancies characterized by a unique somatic mutational profile since three mutually exclusive mutations (JAK2V617F, MPL, and CALR) sustain the great majority of the cases.
|
25139710 |
2014 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The recent discovery of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients without JAK2/MPL mutations has emerged as a relevant finding for the molecular diagnosis of these myeloproliferative neoplasms (MPN).
|
25068507 |
2014 |
|
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms.
|
24729973 |
2014 |