Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders.
|
18669880 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms characterized by recurrent somatic mutations in JAK2, CALR, and MPL.
|
27727468 |
2016 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Besides the driver mutations in JAK2, MPL, and CALR genes, the deregulation of miRNA expression may also contribute to the pathogenesis of PMF.
|
30259659 |
2018 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have also identified novel JAK2 and MPL mutations in patients with essential thrombocythemia and myelofibrosis (MF).
|
27913528 |
2016 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy.
|
19713221 |
2010 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We show that this antibody specifically recognized patients harboring different types of CALR mutation with no staining in healthy controls and JAK2- or MPL-mutated ET and PMF.
|
24618731 |
2014 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
|
17709604 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MPL(W515L) was found in 3% of ET and 8% of PMF, with a significantly higher percentage of mutated alleles in fibrotic than prefibrotic PMF (median, 78% MPL(W515L) alleles; p<0.05).
|
19616600 |
2009 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
|
19194467 |
2009 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CALR or MPL are present as driving mutations in the majority of remaining ET and PMF patients.
|
30558676 |
2018 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
More recently, another mutation in the juxtamembrane domain of the thrombopoietin receptor Mpl was discovered in about 5% of patients with CIMF and ET.
|
18220909 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, a mutation of the thrombopoietin receptor, MPLW515L, has been documented in some patients with IMF.
|
17222772 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays.
|
23057517 |
2013 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
|
18528423 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Oncogenic driver mutations in PMF include Janus kinase 2, calreticulin (CALR), and myeloproliferative leukemia virus oncogene.
|
29256926 |
2018 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet cDNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF.
|
18451306 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other MPN-relevant putative oncogenes that are awaiting therapeutic validation, include JAK2 and MPL mutations in polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF); KITD816V and other KIT mutations in systemic mastocytosis, and FGFR1 rearrangements associated with the 8p11 leukemia/lymphoma syndrome.
|
19147089 |
2009 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Haematopoietic cell lineage distribution of MPLW515L/K mutations in patients with idiopathic myelofibrosis.
|
17408398 |
2007 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An integral part of laboratory tests carried out in this disease group is detecting the presence of mutations in the Janus kinase 2 gene at position 617 (JAK2 V617F) and in the gene encoding for the receptor for thrombopoietin (myeloproliferative leukemia virus oncogene, MPL) found in approximately 60% of PMF patients.
|
29534592 |
2019 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
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 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
JAK2 and MPL mutations in myeloproliferative neoplasms.
|
18566540 |
2008 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.
|
20062088 |
2010 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.
|
16834459 |
2006 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in the calreticulin (CALR) gene were recently discovered in patients with sporadic essential thrombocythemia (ET) and primary myelofibrosis (PMF) lacking JAK2 and MPL mutations.
|
24553179 |
2014 |
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Next to janus kinase 2 (JAK2) and myeloproliferative leukemia protein, calreticulin (CALR) is a recently discovered mutation present in > 20% of patients diagnosed with primary myelofibrosis (PMF).
|
26935576 |
2016 |