Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MPN driver mutations (JAK2, CALR, MPL) are somatically acquired also in familial cases, so a genetic predisposition to acquire one of the MPN driver mutations would be inherited, even though the causative germline mutations underlying familial MPN remain largely unknown.
|
28444727 |
2017 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The combination of laboratory testing for the detection of JAK2, CALR, and MPL mutations is necessary to improve the diagnosis and classification of BCR-ABL1-negative MPN.
|
28406068 |
2017 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
|
21228032 |
2011 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Nonfamilial, MPL S505N-Mutated Essential Thrombocythaemia.
|
23970983 |
2013 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the prevalence of MPL mutations relative to JAK2 mutations in patients with suspected MPDs.
|
21326037 |
2011 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the thrombopoietin receptor (MPL) may activate relevant pathways and lead to chronic myeloproliferative neoplasms (MPNs).
|
21858098 |
2011 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genomic DNA from peripheral blood, bone marrow, and FFPE bone marrow clot preparations from 52 MPN specimens with known JAK2 and MPL mutation status and 29 non-MPN specimens was analyzed.
|
27018326 |
2016 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Overall, our data indicate that the JAK1/JAK2 selective inhibitor CYT387 has potential for efficacious treatment of MPN harboring mutated JAK2 and MPL alleles.
|
19295546 |
2009 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found examples of both of these categories in published and previously unpublished MPL exon 10 sequencing data from MPN patients, demonstrating that some, if not all of the new mutations reported here represent likely drivers or modifiers of myeloproliferative disease.
|
31697803 |
2020 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Myeloproliferative neoplasms (MPNs) are associated with somatic mutations of genes including JAK2, CALR, or MPL in hematopoietic stem cells.
|
31377025 |
2019 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, MPL mutation was associated with Chinese MPN patients.
|
21555228 |
2011 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This review first considers the factors that may influence phenotype in JAK2-mutated MPNs, especially polycythemia vera (PV) and essential thrombocythemia (ET), and then discusses the mutations implicated in JAK2-negative MPNs such as in MPL and epigenetic regulators.
|
23009934 |
2012 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MPL mutational frequency in MPNs is substantially less (<10%).
|
18297515 |
2008 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in sporadic MPD, have been shown to cause inherited thrombocytosis.
|
25195195 |
2014 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Important changes include (1) the change of nomenclature of myeloproliferative disorder to myeloproliferative neoplasm emphasizing the clonal nature of these disorders; (2) the classification of mast cell disease as an MPN; (3) the reorganization of the eosinophilic disorders into a molecularly defined category of PDGFRA, PDGFRB and FGFR1-associated myeloid and lymphoid neoplasms with eosinophilia and chronic eosinophilic leukemia, not otherwise specified; and (4) refinement of the diagnostic criteria for PV, ET and PMF incorporating recently described molecular markers, JAK2V617F, JAK2 exon 12 mutations and MPL mutations.
|
20191332 |
2010 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR, or MPL mutations; additional disease features include bone marrow stromal reaction including reticulin fibrosis, abnormal cytokine expression, anemia, hepatosplenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression, and shortened survival.
|
30039550 |
2018 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These mutations include JAK2, CALR and MPL mutations as the main disease drivers, mutations driving clonal expansion, and mutations that contribute to progression of chronic MPNs to myelodysplasia and acute leukemia.
|
31741139 |
2020 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
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 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.
|
18451306 |
2008 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Newly characterized markers, such as altered expression of polycythemia rubra vera-1 (PRV-1) and the thrombopoietin receptor (c-MPL) as well as deletions on chromosome 20q (del20q) and loss of heterozygosity on chromosome 9p (9pLOH) provide an opportunity to diagnose and identify subpopulations of MPD patients.
|
15572213 |
2005 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
|
18528423 |
2008 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in JAK2, MPL and CALR are highly relevant to the Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs).
|
25023898 |
2014 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients.
|
25116092 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in the CALR gene were recently discovered in a substantial proportion of Philadelphia-negative chronic myeloproliferative neoplasm (cMPN) patients lacking JAK2 and MPL mutations.
|
25482455 |
2015 |
Chronic myeloproliferative disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, activating myeloproliferative leukemia virus oncogene (MPL) mutations, MPLW515L/K, were described in myeloproliferative disorder (MPD) patients.
|
17693582 |
2007 |