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BIOMARKER:

PDGFRA rearrangement

i
Other names: 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 Antigen, PDGF-R-Alpha, PDGFR-2, PDGFR2, Alpha Platelet-Derived Growth Factor Receptor, Platelet-Derived Growth Factor Alpha Receptor, PDGFR-Alpha, RHEPDGFRA, CD140A
Entrez ID:
2d
Case Report: Co-existence of BCR::PDGFRA gene fusion and PDGFRA variants in myeloid neoplasm with persistent leukocytosis, large splenomegaly, and eosinophilia. (PubMed, Front Oncol)
Treatment with imatinib, a tyrosine kinase inhibitor, resulted in a continuous complete molecular response (CMR). To our knowledge, this is the first report to demonstrate the clinical and cytogenetic manifestations of BCR::PDGFRA positive myeloid neoplasm coexisting PDGFRA mutations. Furthermore, it emphasizes the effectiveness of targeted therapy and the significance of personalized management.
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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PDGFRA mutation • PDGFRA rearrangement
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imatinib
2ms
Ulcers and Eosinophils: A Rare Presentation of PDGFRA-Rearranged Myeloid Neoplasm Responding to Imatinib. (PubMed, J Investig Med High Impact Case Rep)
The case highlights how delayed recognition of clonal eosinophilia can permit extensive organ injury, whereas early molecular testing and prompt initiation of imatinib yield dramatic clinical and hematologic remission. Persistent hypereosinophilia, particularly with cutaneous or gastrointestinal involvement, should prompt evaluation for PDGFRA-rearranged disease to enable early intervention and prevent irreversible tissue damage.
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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PDGFRA rearrangement
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imatinib
4ms
Imatinib Treatment in Primary Acute Basophilic Leukemia with FIP1L1-PDGFRα Rearrangement: A Case Report. (PubMed, Acta Haematol)
Meanwhile, the FIP1L1::PDGFRA fusion gene detection results strongly support the use of molecular diagnosis in ABL. In addition, the patient successfully achieved a complete response to treatment and was followed for a year and a half without relapse, thus offering valuable insights for treatment strategies in similar cases.
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 rearrangement
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imatinib
7ms
Case Report: Pathologic complete response in a patient with simultaneous diagnoses of resectable NSCLC and myeloid neoplasm with PDGFRA rearrangement treated with concurrent neoadjuvant chemoimmunotherapy and imatinib: translating clinical trial data to real-world practice. (PubMed, Front Oncol)
This case describes a 57-year-old man with simultaneous diagnoses of resectable stage IIIA NSCLC and PDGFRA-rearranged myeloid neoplasm who received neoadjuvant chemotherapy and nivolumab in combination with imatinib prior to definitive resection. Our report highlights the decision-making involved in pursuing combined systemic therapy of the patient's multiple malignancies and in navigating barriers related to tissue availability for biomarker testing. Approaches to neoadjuvant immunotherapy in early-stage NSCLC can be successful but must remain adaptable to reliably manage complex patient presentations in real-world, non-clinical trial settings.
Journal • Real-world evidence • PD(L)-1 Biomarker • IO biomarker
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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PDGFRA rearrangement
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Opdivo (nivolumab) • imatinib
10ms
Loeffler endocarditis revealing chronic eosinophilic leukaemia with FIP1L1-PDGFRA rearrangement: a case report. (PubMed, Eur Heart J Case Rep)
This case highlights that Loeffler endocarditis can present as the primary and sole manifestation of chronic eosinophilic leukaemia. Effective collaboration between cardiologists and internists is crucial for timely diagnosis and comprehensive management, ultimately resulting in enhanced outcomes.
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 rearrangement
11ms
Nosologic reappraisal of the recently proposed calcified chondroid mesenchymal neoplasm concept in a series of 20 cases. (PubMed, Mod Pathol)
Using "CCMN" as an entity would entail mixed repercussions in diagnostic practice, and how and whether it should be used in diagnosis requires deliberate discussion. The concept might bring some benefits, but it may cause more confusion because it would substantially restructure the conventional framework by drawing a boundary within the chondroma and conflating the chondroma with chondroid tenosynovial giant cell tumor.
Journal
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FGFR2 (Fibroblast growth factor receptor 2) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • MERTK (MER Proto-Oncogene, Tyrosine Kinase)
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FGFR2 fusion • PDGFRA rearrangement
1year
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B-Cell Lymphoblastic Leukemia. (PubMed, Genes Chromosomes Cancer)
Identification of FIP1L1::PDGFRA rearrangements is important as they enable treatment with a tyrosine kinase inhibitor, which has significantly improved the overall prognosis for PDGFRA-rearranged neoplasms. Prospective studies assessing imatinib dosage, duration, and long-term safety are warranted in this cohort.
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 rearrangement
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imatinib
1year
NCI-2018-03465: Azacitidine, Venetoclax, and Pevonedistat in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia (clinicaltrials.gov)
P1/2, N=40, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Jan 2025 --> Jan 2027 | Trial primary completion date: Jan 2025 --> Jan 2027
Trial completion date • Trial primary completion date
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ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • NPM1 (Nucleophosmin 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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NPM1 mutation • CEBPA mutation • PDGFRA rearrangement
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Venclexta (venetoclax) • azacitidine • pevonedistat (MLN4924)
2years
NCI-2018-03465: Azacitidine, Venetoclax, and Pevonedistat in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia (clinicaltrials.gov)
P1/2, N=40, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Jan 2024 --> Jan 2025 | Trial primary completion date: Jan 2024 --> Jan 2025
Trial completion date • Trial primary completion date
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ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • NPM1 (Nucleophosmin 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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NPM1 mutation • CEBPA mutation • PDGFRA rearrangement
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Venclexta (venetoclax) • azacitidine • pevonedistat (MLN4924)