Myeloid/Lymphoid Neoplasms with ETV6::PDGFRB Fusion Gene: A Rare Case of Poor Response to Imatinib and Possible Transformation Mechanisms from Myeloid Neoplasms of Bone Marrow to T-Cell Lymphoblastic Lymphoma Invasion in Lymph Nodes

• Published in: Journal of inflammation research 2023, Vol.16, p.5163-5170
• Main Authors: Gou, Yang, Tang, Yongjie, Liu, Shuiqing, Cheng, Siyu, Deng, Xiaojuan, Wen, Qin, Feng, Yimei, Peng, Xiangui, Wang, Ping, Zhang, Xi
• Format: Report
• Language: English
• ISSN: 1178-7031; 1178-7031
• DOI: 10.2147/JIR.S427995

The ETV6::PDGFRB fusion gene is commonly reported in chronic myelomonocytic leukemia with eosinophilia, yet patients with ETV6::PDGFRB presenting myeloid and lymphoid neoplasms successively have not been reported. Here, we report the first case of a 35-year-old man with myeloid and lymphoid neoplasms harboring an ETV6::PDGFRB fusion gene who demonstrated poor response to imatinib. The patient was diagnosed with an ETV6::PDGFRB fusion gene myeloid neoplasm on initial diagnosis at our hospital. After 5 months of treatment with imatinib, he was diagnosed with T-cell lymphoblastic lymphoma. ETV6::PDGFRB turned negative after increasing the dose of imatinib, but enlarged superficial lymph nodes reappeared the following year. Notably, the patient exhibited a worse response to imatinib treatment. This study describes this rare case and speculates on a possible mechanism.