Identification of a novel NRF1::PDGFRA fusion in myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions
A novel fusion gene <i>NRF1::PDGFRA</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.
Authors
- Xiaoxia Yang (ORCID: https://orcid.org/0000-0001-6464-4081)
- Xi Liu (ORCID: https://orcid.org/0000-0001-7303-367X)
- Kai Fan (ORCID: https://orcid.org/0000-0001-5217-5935)
- Tingting Xiao (ORCID: https://orcid.org/0000-0001-7311-4496)
- Yaqing Feng (ORCID: https://orcid.org/0000-0001-7763-7470)
- J Y Gong (ORCID: https://orcid.org/0000-0003-4172-9917)
- Jialong Liu (ORCID: https://orcid.org/0000-0002-4303-3617)
- Junyan Zou (ORCID: https://orcid.org/0000-0002-3905-698X)
- Yanfang Zhang (ORCID: https://orcid.org/0000-0002-9652-2393)
- Lisha Lu
- Yingnan Xiao
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Institute of Hematology & Blood Diseases Hospital (CN)
- Shanxi Datong University (CN)
- Tianjin Medical University (CN)
Publication Details
- Journal
- Frontiers in Oncology
- Published
- 2025-03-25
- DOI
- https://doi.org/10.3389/fonc.2025.1552928
- Citations
- 1
- Primary Topic
- Eosinophilic Disorders and Syndromes
- Type
- article
- Field-Weighted Citation Impact
- 1.67