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BRIEF RESEARCH REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1552928
Identification of a Novel NRF1::PDGFRA Fusion in Myeloid/Lymphoid Neoplasms With Eosinophilia and Tyrosine Kinase Gene Fusions
Provisionally accepted
Jialong Liu 1
Yaqing Feng 2*
Yanfang Zhang 2 Yingnan Xiao 1
Xi Liu 2 Tingting Xiao 1 Junyan Zou 1 Kai Fan 2 Lisha Lu 1,3 Xiaoxia Yang 2
Jinying Gong 1,3*- 1 Tianjin Union Precision Medical Diagnostics Co. Ltd, Tianjin, China
- 2 The Third People’s Hospital of Datong, Datong, Shanxi Province, China
- 3 Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, Tianjin Municipality, China
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.
Keywords: Eosinophilia, PDGFRA rearrangement, NRF1, MLN-TK, Gene Fusion, Imatinib
Received: 29 Dec 2024; Accepted: 07 Mar 2025.
Copyright: © 2025 Liu, Feng, Zhang, Xiao, Liu, Xiao, Zou, Fan, Lu, Yang and Gong. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Yaqing Feng, The Third People’s Hospital of Datong, Datong, Shanxi Province, China
Jinying Gong, Tianjin Union Precision Medical Diagnostics Co. Ltd, Tianjin, China
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