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BIOMARKER:

FIP1L1-PDGFRA fusion

i
Other names: FIP1L1, Factor Interacting With PAPOLA And CPSF1, FIP1L1 Cleavage And Polyadenylation Specific Factor Subunit, Pre-MRNA 3'-End-Processing Factor FIP1, Rearranged In Hypereosinophilia, Factor Interacting With PAP, FIP1-Like 1 Protein, HFip1, FIP1, FIP1 Like 1 (S. Cerevisiae), FIP1 Like 1, RHE, Platelet Derived Growth Factor Receptor Alpha, Platelet-Derived Growth Factor Receptor Alpha Polypeptide, Alpha-Type Platelet-Derived Growth Factor Receptor, CD140 Antigen-Like Family Member A, CD140a Antig
Entrez ID:
7ms
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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FIP1L1-PDGFRA fusion • PDGFRA fusion
12ms
NATRON: A Phase III Study to Evaluate the Efficacy and Safety of Benralizumab in Patients With Hypereosinophilic Syndrome (HES) (clinicaltrials.gov)
P3, N=120, Recruiting, AstraZeneca | Trial completion date: Nov 2024 --> Nov 2026 | Trial primary completion date: Nov 2023 --> May 2024
Trial completion date • Trial primary completion date
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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FIP1L1-PDGFRA fusion • PDGFRA fusion
over1year
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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FIP1L1-PDGFRA fusion • PDGFRA fusion
almost2years
FIP1L1::PDGFRA-positive chronic eosinophilic leukemia showing slowly progressive cardiac impairment (PubMed, Rinsho Ketsueki)
We initiated imatinib (100 mg/day), and the eosinophilia disappeared in a month...This case is valuable because it shows the long-term course of the disease, with 15 years of laboratory findings until diagnosis. Our findings suggest that in cases of eosinophilia with an abnormal electrocardiogram, contrast-enhanced cardiac magnetic resonance imaging should be considered earlier.
Review • Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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FIP1L1-PDGFRA fusion • PDGFRA fusion
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imatinib
2years
Fusion Gene Detection and Quantification by Asymmetric Capture Sequencing (aCAP-Seq). (PubMed, J Mol Diagn)
Fusion quantification was linear from 50% to 0.1% and breakpoint locations and sequences identified by NGS were concordant with results obtained by Sanger sequencing. Finally, this new sensitive and cost efficient NGS method allowed integrated analysis of resistant chronic myeloid leukemia patients and will thus be of interest to elucidate the mutational landscape and the clonal architecture of myeloid malignancies driven by these fusion genes at diagnosis, relapse, or progression.
Journal
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ABL1 (ABL proto-oncogene 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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FIP1L1-PDGFRA fusion • PDGFRA fusion
2years
CML-216 Hypereosinophilia Syndrome With FIP1L1-PDGFRA Transcript Revealed by Cardiac Involvement. (PubMed, Clin Lymphoma Myeloma Leuk)
Chronic eosinophilic leukemia with FIP1L1-PDGFRA can be serious and fatal in the event of diagnostic delay and the nature of the affected organ. Patients with clinical manifestations consistent with HES should be investigated for evidence of clonality of hematopoiesis and a search for a T-lymphocyte population for treatment decisions.
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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FIP1L1-PDGFRA fusion • PDGFRA fusion
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imatinib
over3years
FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a Treatable Cause of Watershed Infarction. (PubMed, Stroke)
F/P+ clonal hypereosinophilic syndrome is a diagnosis to consider in patients with unexplained ischemic stroke and hypereosinophilia (especially in the setting of multiple cortical borderzone distribution) and warrants prompt initiation of imatinib.
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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FIP1L1-PDGFRA fusion • PDGFRA fusion
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imatinib
over3years
[VIRTUAL] An interesting case highlighting the need to test for JAK2 fusions (BSH 2021)
The patient was initially treated with hydroxycarbamide pending approval for ruxolitinib whilst being worked up for allogeneic stem cell transplant...JAK2 fusions are thought to be associated with a more aggressive clinical course than other chronic myeloid malignancies, and as such allogeneic stem cell transplant is considered the most appropriate treatment where possible, with ruxolitinib being utilised as a bridge to transplant, by improving remission rate prior to the transplantation. Given the distinct clinical and pathological characteristics, as illus- trated in this case, we believe testing for a JAK2 fusions should be considered in otherwise unclassifiable myeloid / lymphoid neoplasms, especially those with eosinophilia.
Clinical
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ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • JAK2 (Janus kinase 2) • TET2 (Tet Methylcytosine Dioxygenase 2) • ETV6 (ETS Variant Transcription Factor 6) • CD34 (CD34 molecule) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1) • PCM1 (Pericentriolar Material 1)
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PDGFRA mutation • KIT D816V • FIP1L1-PDGFRA fusion • JAK2 V617F • CD34 positive • BCR-JAK2 fusion • JAK2 fusion • PDGFRA fusion
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Jakafi (ruxolitinib) • hydroxyurea
over3years
Clinical • Review • Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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FIP1L1-PDGFRA fusion
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imatinib
almost4years
[VIRTUAL] Paraneoplastic Eosinophilia (PNE): A Rare Finding in a Patient With Metastatic Medullary Thyroid Carcinoma (ENDO 2021)
The patient initiated vandetanib with a partial response (PR) with decrease in lung and liver metastases and a significant improvement of the paraneoplastic eosinophilia [eosinophil count 2.39 k/ul] after 10 weeks of treatment...For oral presentations, the abstracts are embargoed until the session begins. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO 2021.
Clinical
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ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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RET mutation • RET M918T • FIP1L1-PDGFRA fusion
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Caprelsa (vandetanib)
4years
S100A8 and S100A9 Promote Apoptosis of Chronic Eosinophilic Leukemia Cells. (PubMed, Front Immunol)
S100A8 and S100A9 also induced apoptosis of imatinib-resistant EoL-1 cells (EoL-1-IR). S100A8 and S100A9 blocked tumor progression of xenografted EoL-1 and EoL-1-IR cells in NOD-SCID mice and evoked apoptosis of eosinophils derived from hypereosinophilic syndrome as well as chronic eosinophilic leukemia. These findings may contribute to a progressive understanding of S100A8 and S100A9 in the pathogenic and therapeutic mechanism of hematological malignancy.
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1) • S100A8 (S100 Calcium Binding Protein A8) • S100A9 (S100 Calcium Binding Protein A9) • TLR4 (Toll Like Receptor 4) • CASP9 (Caspase 9)
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FIP1L1-PDGFRA fusion • S100A9 expression
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imatinib