Identification of a Novel <i>NRF1</i>::<i>PDGFRA</i> Fusion in Myeloid/Lymphoid Neoplasms With Eosinophilia and Tyrosine Kinase Gene Fusions
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A novel fusion gene <i>NRF1::PDGFRA</i><i> </i>was identified in a patient with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK), harboring the chromosome abnormality t(4;7)(q12;q32). This represents the first reported case of the<i> NRF1</i>::<i>PDGFRA</i> fusion gene, and the ninth <i>PDGFRA</i>-associated fusion gene identified in MLN-TK. The fusion event led to the constitutive activation of the PDGFRA kinase, resulting in uncontrolled eosinophil proliferation and potentially contributing to the occurrence of cerebral infarction. Our study indicates treatment with low-dose imatinib effectively alleviates the symptoms associated with <i>NRF1::PDGFRA</i> gene fusion.
创建时间:
2025-03-21



