Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A 2.5-year-old boy was diagnosed with myeloproliferative disorder and eosinophilia associated with lymphoblastic lymphoma both bearing the CCDC88C-PDGFRB fusion.
|
30726835 |
2019 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Although patients with PDGFRB rearrangement mostly present with myeloproliferative neoplasm and eosinophilia, acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) have also been reported in this population.
|
28000100 |
2017 |
Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
disease |
BEFREE |
We report a NUMA1-PDGFRB fusion in a myeloproliferative neoplasm with eosinophilia in a 61-year old man, with response to imatinib mesylate therapy.
|
28449810 |
2017 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here we describe two patients with MPD with eosinophilia and PDGFRB rearrangements, one of which was congenital.
|
22488677 |
2012 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The incidence of myeloproliferative neoplasms (MPN) with PDGFRB rearrangement was low (10 cases, 1.8% of all MPN).
|
22587685 |
2012 |
Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
disease |
BEFREE |
Here, we developed version 2.0 of a genomically based systematic kinase fusion screen and used it to detect a novel imatinib-sensitive C6orf204-PDGFRB fusion in a patient with precursor T lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm with eosinophilia.
|
21938754 |
2012 |
Chronic myeloproliferative disorder
|
0.300 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, significant overexpression of PDGFRB was found in a patient with an eosinophilia-associated myeloproliferative neoplasm with uninformative cytogenetics and an excellent response to imatinib.
|
20107158 |
2010 |
Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
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
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Imatinib is usually a highly effective treatment for myeloproliferative neoplasms (MPNs) associated with ABL, PDGFRA or PDGFRB gene fusions; however, occasional imatinib-responsive patients have been reported without abnormalities of these genes.
|
18971950 |
2009 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Therapeutically validated oncoproteins in myeloproliferative neoplasms (MPNs) include BCR-ABL in chronic myelogenous leukemia (CML) and a spectrum of PDGFRA/B mutant proteins that are products of intra- (eg, FIP1L1-PDGFRA) or interchromosomal (eg, ETV6-PDGFRB) gene fusions.
|
19147089 |
2009 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
BCR-ABL1 is associated with chronic myelogenous leukaemia (CML) and mutant PDGFR with an MPN phenotype characterized by eosinophilia and in addition, in case of FIP1L1-PDGFRA, bone marrow mastocytosis.
|
19175693 |
2009 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2).
|
19006078 |
2009 |
Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
disease |
BEFREE |
The revised 2008 WHO classification system featured the following changes: 1) the term "CMPD" was replaced by "myeloproliferative neoplasm (MPN)," 2) mast cell disease was formally included under the category of MPN, and 3) the subcategory of CEL/HES was reorganized into "CEL not otherwise specified (CEL-NOS)" and "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1"; CEL-NOS remained a subcategory of "MPN," whereas the latter neoplasms were now assigned a new category of their own.
|
19472396 |
2009 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Chromosomal translocations involving the platelet-derived growth factor receptor beta gene (PDGFRB) have been reported in a subset of patients with atypical myeloproliferative disorders (MPDs).
|
18262053 |
2008 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We sought to identify new fusion genes with involvement of the platelet-derived growth factor receptor beta gene (PDGFRB) in three patients presenting with various subtypes of chronic myeloproliferative disorders associated with chromosomal aberrations involving chromosome bands 5q31-33.
|
17296564 |
2007 |
Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
disease |
BEFREE |
Twelve patients with BCR-ABL-negative CMPDs and reciprocal translocations involving PDGFRB received imatinib for a median of 47 months (range, 0.1-60 months).
|
16960151 |
2007 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We report the cloning of a novel PDGFRB fusion gene partner in a patient with a chronic myeloproliferative disorder characterized by t(5;14)(q33;q32), who responded to treatment with imatinib mesylate.
|
15496975 |
2005 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
However, although the incidence of MPD involving translocations of PDGFRB has been well established, to our knowledge there are only two previous reports describing a BCR-PDGFRA fusion gene, in 3 patients diagnosed with atypical CML.
|
15034867 |
2004 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Similarly, the drug has now been shown to display equally impressive therapeutic activity in eosinophilia-associated chronic myeloproliferative disorders that are characterized by activating mutations of either the PDGFRB or the PDGFRA gene.
|
15166033 |
2004 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Lack of response to imatinib mesylate in a patient with accelerated phase myeloproliferative disorder with rearrangement of the platelet-derived growth factor receptor beta-gene.
|
15477214 |
2004 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
p53-Binding protein 1 is fused to the platelet-derived growth factor receptor beta in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder.
|
15492236 |
2004 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
NIN, a gene encoding a CEP110-like centrosomal protein, is fused to PDGFRB in a patient with a t(5;14)(q33;q24) and an imatinib-responsive myeloproliferative disorder.
|
15087377 |
2004 |
Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
disease |
BEFREE |
Imatinib mesylate has recently been shown to be efficacious in MPDs with PDGFR activation.
|
12907457 |
2003 |
Chronic myeloproliferative disorder
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have tested nine patients with a CMPD or MDS/MPD and a translocation involving 5q31-33 for disruption of PDGFRB by two-colour fluorescence in situ hybridization (FISH) using differentially labelled, closely flanking probes.
|
12542482 |
2003 |
Chronic myeloproliferative disorder
|
0.300 |
Biomarker
|
disease |
MGD |
|
|
|