Abstract

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (M/LNeo- TK) such as PDGFRA, PDGFRB, FGFR1, JAK2, FLT3 rearrangement and ETV6::ABL1 fusion include rare and heterogeneous clinical-pathological entities with some similarities, not always associated with peripheral eosinophilia. Accurate diagnosis and demonstration of the specific genetic substrate have important implications since target therapy is possibly available. Herein we report two cases showing different bone marrow features and clinical presentation. Recognition of eosinophilic granuloblasts prompted genetic analysis that showed PDGFRB (case 1) and PDGFRA (case 2) gene rearrangement. Diagnosis of M/LN-eo-TK may be challenging. Pathologists may be the first professionals to suspect the disorder and should be aware of the therapeutic implication. Accurate BOM marrow evaluation with a panel of immunohistochemical reactions, and specific molecular analyses are required for proper diagnosis.

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Authors

Elisabetta Merenda - 1Department of Radiologic, Oncologic and Pathologic Sciences, Sapienza University of Rome, Italy

Katia Paciaroni - Unit, San Filippo Hospital, Rome Italy

Emilia Scalzulli - 3Department of Cellular Biotechnology and Hematology BCE, Sapienza University of Rome, Italy

Massimo Breccia - 3Department of Cellular Biotechnology and Hematology BCE, Sapienza University of Rome, Italy

Stefano Licci - 4Pathology Unit, San Filippo Hospital, Rome Italy; 5Department of Translational and Precision Medicine, Sapienza University of Rome, Italy

Luisa Bizzoni - 5Department of Translational and Precision Medicine, Sapienza University of Rome, Italy

Carla Giordano - 1Department of Radiologic, Oncologic and Pathologic Sciences, Sapienza University of Rome, Italy

Emma Rullo - 1Department of Radiologic, Oncologic and Pathologic Sciences, Sapienza University of Rome, Italy

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Copyright (c) 2025 Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology

How to Cite
Merenda, E., Paciaroni, K., Scalzulli, E., Breccia, M., Licci, S., Bizzoni, L., Giordano, C., & Rullo, E. . (2025). Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusion: report of two cases with different clinical presentation. Pathologica - Journal of the Italian Society of Anatomic Pathology and Diagnostic Cytopathology, 117(2). Retrieved from https://www.pathologica.it/article/view/1353
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