CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Co-existence of BCR::PDGFRA gene fusion and PDGFRA variants in myeloid neoplasm with persistent leukocytosis, large splenomegaly, and eosinophilia
Provisionally accepted
Chongyan 卢崇艳 Lu1
Zhifang 肖芷芳 Xiao2
Peng Zhang2Na 韩娜 Han2Xianjun 何显君 He2Jinfeng 张金凤 Zhang2Yueqi 冯月琪 Feng2Mengshan 关梦珊 Guan2Ling 欧阳玲 Ouyang2Yang 高飏 Gao2
Yonghua 李勇华 Li2*- 1Guangzhou University of Chinese Medicine, Guangzhou, China
- 2People's Liberation Army General Hospital of Southern Theatre Command, Guangzhou, China
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Persistent leukocytosis, massive splenomegaly, and eosinophilia are common manifestations in patients with myeloproliferative neoplasms (MPNs), particularly in those with chronic myeloid leukemia (CML). CML is characterized by the BCR::ABL fusion gene, typically associated with the t(9;22)(q34;q11) translocation. Herein, we report a case of myeloid neoplasm with a rare variant translocation, t(4;22)(q12;q11), involving the BCR::PDGFRA fusion gene and coexisting PDGFRA variants, accompanied by persistent leukocytosis, massive splenomegaly, and eosinophilia. Laboratory tests showed elevated white blood cell counts, with increased monocytes, neutrophils, and eosinophils. Bone marrow aspiration revealed a granulocytic-erythrocytic ratio of 189:1, marked granulocytic hyperplasia, and numerous immature granulocytes. Genetic testing confirmed an uncommon BCR::PDGFRA and coexisting PDGFRA mutations (c.1666G>A and c.1701A>G), confirming the diagnosis of myeloid neoplasm with BCR::PDGFRA rearrangement. 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.
Keywords: BCR::PDGFRA fusion, Imatinib, Myeloproliferative neoplasm, PDGFRA variants, Tyrosine KinaseInhibitors
Received: 22 Jul 2025; Accepted: 29 Jan 2026.
Copyright: © 2026 Lu, Xiao, Zhang, Han, He, Zhang, Feng, Guan, Ouyang, Gao and Li. 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: Yonghua 李勇华 Li
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