AUTHOR=Liu Jialong , Feng Yaqing , Zhang Yanfang , Xiao Yingnan , Liu Xi , Xiao Tingting , Zou Junyan , Fan Kai , Lu Lisha , Yang Xiaoxia , Gong Jinying 

TITLE=Identification of a novel NRF1::PDGFRA fusion in myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions

JOURNAL=Frontiers in Oncology

VOLUME=Volume 15 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2025.1552928

DOI=10.3389/fonc.2025.1552928

ISSN=2234-943X

ABSTRACT=A novel fusion gene NRF1::PDGFRA 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 NRF1::PDGFRA fusion gene, and the ninth PDGFRA-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 NRF1::PDGFRA gene fusion.