Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 Biomarker disease BEFREE That ponatinib briefly induced remission in our patient with acute myeloid leukemia arising from a myeloproliferative neoplasm with eosinophilia and FIP1L1-PDGFRα fusion may merit exploration of ponatinib as a potential second-line treatment option for this patient population. 30184522 2018
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 GeneticVariation disease BEFREE The purpose of this review is to provide an overview of the differential diagnosis for eosinophilia, to recommend specific steps for the pathologist evaluating blood and bone marrow, and to emphasize 2 important causes of eosinophilia that require specific ancillary tests for diagnosis: myeloproliferative neoplasm with PDGFRA rearrangement and lymphocyte-variant hypereosinophilic syndrome. 27684977 2016
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 Biomarker disease BEFREE This is the first report to describe the FOXP1-PDGFRA fusion gene in MPN. 26319757 2015
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 Biomarker disease BEFREE Concurrent B-ALL with MPN is uncommon except in the presence of abnormalities of the PDGFRA, PDGFRB, or FGFR1 genes or the BCR-ABL1 fusion gene. 25453399 2015
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 Biomarker disease BEFREE The fusion product of such genes is a tyrosine kinase oncoprotein sensitive to imatinib, which to date results to be the standard of care for FIP1L1-PDGFRA-positive chronic myeloproliferative disorders with eosinophilia. 24460680 2014
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 GeneticVariation disease BEFREE This study also found losses at 11q13.3 in 26% of patients with MPN-Ph- and in 19p13.11 in two of the three patients with an MPN associated with a PDGFRA rearrangement. 24813417 2014
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 GeneticVariation disease BEFREE However, after treatment with hydroxyurea and serial phlebotomies had been started, the patient developed hypereosinophilia, fitting the category of a myeloproliferative neoplasm with eosinophilia associated with the FIP1L1-PDGFRA gene fusion, as confirmed by molecular analysis. 22944561 2012
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 Biomarker disease BEFREE Here, we report a case of MS and FIP1L1-PDGFRA-associated MPN that was successfully treated with IM monotherapy. 22722648 2012
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 GeneticVariation disease BEFREE The introduction of JAK2 mutation testing has changed dramatically the diagnostic algorithms for myeloproliferative neoplasms (MPNs) but there is still a place for conventional cytogenetic analysis in the initial work-up of MPN cases, particularly as this group of myeloid disorders has been expanded to include chronic eosinophilic leukaemia and myeloid neoplasms with abnormalities of the PDGFRA, PDGFRB, and FGFR1 genes. 21431636 2011
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 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
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 Biomarker 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
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 GeneticVariation 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
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 Biomarker disease BEFREE This study demonstrates the utility of screening for PDGFRA kinase domain overexpression in patients with IHES and has identified a third PDGFRA fusion partner in chronic myeloproliferative disorders. 16498388 2006
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 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
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
0.100 GeneticVariation disease BEFREE Chronic myeloproliferative disorders with rearrangement of the platelet-derived growth factor alpha receptor: a new clinical target for STI571/Glivec. 12944919 2003