|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The clinical laboratory work-up confirmed secondary HE in 25 (20%) patients; myeloid/lymphoid neoplasms with rearrangements of PDGFRA (n = 9) or PDGFRB (n = 2) (9%); HE associated with a well-defined myeloid neoplasm in 8 (6%); and abnormal bone marrow and/or molecular genetic abnormalities consistent with chronic eosinophilic leukemia (CEL), not otherwise specified (NOS) in 21 (17%) patients.
|
30105844 |
2018 |
|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Testing for a FIP1L1-PDGFRA rearrangement is at present limited to patients with idiopathic hypereosinophilia, and we hypothesize that this abnormality may be under-diagnosed in children with acute leukemias.
|
29025601 |
2017 |
|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Chronic eosinophilic leukaemia associated with the FIP1L1-PDGFRA fusion gene (F/P+ CEL) is a rare cause of marked persistent hypereosinophilia, arising almost exclusively in male patients.
|
27164940 |
2016 |
|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Activated forms of the platelet derived growth factor receptor alpha (PDGFRα) have been described in various tumors, including FIP1L1-PDGFRα in patients with myeloproliferative diseases associated with hypereosinophilia and the PDGFRα(D842V) mutant in gastrointestinal stromal tumors and inflammatory fibroid polyps.
|
24618081 |
2014 |
|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Fip1-like1 (FIP1L1)-platelet-derived growth factor receptor alpha fusion gene (F/P) arising in the pluripotent hematopoietic stem cell (HSC),causes 14% to 60% of patients with hypereosinophilia syndrome (HES).
|
22523564 |
2012 |
|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ETV6-PDGFRB (also called TEL-PDGFRB) and FIP1L1-PDGFRA are receptor-tyrosine kinase fusion genes that cause chronic myeloid malignancies associated with hypereosinophilia.
|
22271894 |
2012 |
|
Hypereosinophilia
|
0.100 |
Biomarker
|
disease |
BEFREE |
FIP1L1/PDGFR alpha-positive disorders are characterized by clonal hypereosinophilia, multiple organ dysfunctions due to eosinophil infiltration, systemic mastocytosis (SM) and a dramatic response to treatment with imatinib mesylate.
|
20523072 |
2010 |
|
Hypereosinophilia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Despite patients with FIP1-like-1-platelet-derived growth factor alpha (FIP1L1-PDGFRA) associated HES (myeloid neoplasms associated with PDGFRA rearrangement) have been shown to respond to low-dose imatinib with a complete and durable hematological and cytogenetic remission, influences of imatinib on clinical manifestations related to hypereosinophilia heart involvement are variable.
|
19096755 |
2009 |
|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the same FIP1L1-PDGFRA rearrangement was identified in patients with hypereosinophilia and atypical mast cell proliferations, raising the question of a disease with two concomitant lines of differentiation.
|
18028420 |
2008 |
|
Hypereosinophilia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The year 2008 marks the fifth anniversary since the publication which identified the FIP1L1-PDGFRA fusion gene in patients with idiopathic hypereosinophilia.
|
18843283 |
2008 |
|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cough and hypereosinophilia due to FIP1L1-PDGFRA fusion gene with tyrosine kinase activity.
|
16387954 |
2006 |
|
Hypereosinophilia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overexpression was detected in 12/12 FIP1L1-PDGFRA-positive patients, plus 9/217 (4%) patients with hypereosinophilia who had tested negative for FIP1L1-PDGFRA.
|
16498388 |
2006 |
|
Hypereosinophilia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
An elevated serum tryptase level was observed in FIP1L1-PDGFRA-positive patients responding to imatinib, whereas serum IL-5 levels were not elevated in T-cell associated hypereosinophilia.
|
15772698 |
2005 |
|
Hypereosinophilia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The discovery of the FIP1L1-PDGFRA fusion gene has led to the recognition that many patients who would previously have been regarded as having idiopathic hypereosinophilia actually have chronic eosinophilic leukemia.
|
15307112 |
2004 |
|
Hypereosinophilia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Detection of the FIP1L1-PDGFRA fusion gene or the corresponding cryptic 4q12 deletion supports the diagnosis of chronic eosinophilic leukemia (CEL) in patients with chronic hypereosinophilia.
|
14973504 |
2004 |