| Title: | A case report and a literature review of Myeloid/Lymphoid Neoplasm with Eosinophilia and PCM1::JAK2 rearrangement representing as B-cell acute lymphoblastic leukemia B-ALL |
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| Authors: | ID Čemažar, Luka (Author)
ID Šlajpah, Klara (Author)
ID Gredelj Šimec, Njetočka (Author)
ID Podgornik, Helena (Author) |
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| Files: |  PDF - Presentation file, download (1,14 MB)
MD5: 729CE64BF254952E276C94985BD5EEEC
 URL - Source URL, visit https://link.springer.com/article/10.1007/s00277-026-06757-z
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions (MLN-eo-TK) represent a distinct and heterogeneous group of hematologic malignancies characterized by recurrent gene fusions involving tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, JAK2, FLT3, ETV::ABL1 and other partner genes/variants. Among these, gene rearrangements involving PCM1::JAK2 are rare and may present diagnostic challenges, particularly when manifesting as acute lymphoblastic leukemia (ALL). We describe a case of a patient who presented with B-cell acute lymphoblastic leukemia (B-ALL) with a JAK2 rearrangement. After the induction therapy, strong myeloid proliferation in bone marrow without evidence of residual lymphoblasts was observed and JAK2 rearrangement was recognized to be a consequence of translocation t(8;9)(p22;p24)] resulting in PCM1::JAK2 fusion. This finding indicated the presence of an underlying chronic myeloid/lymphoid neoplasm, meeting criteria for MLN-eo-TK. Following an inadequate response to standard chemotherapy, salvage regimens incorporating targeted agents (JAK2 and BCL-2 inhibitors) and allogeneic bone marrow transplantation were administered, all of which unfortunately resulted in short-lived clinical benefit. The case highlights the importance of distinguishing de novo lymphoid malignancies from MLN-eo-TK, especially when JAK2 rearrangements are detected. Recognition of the clonal myeloid component during or after lymphoid-directed therapy has important diagnostic and therapeutic implications, supporting the use of targeted JAK2 inhibition in addition to standard chemotherapy |
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| Keywords: | Eosinophilia, MLN-eo-TK, PCM1:JAK2, B-ALL, acute lymphoblastic leukemia, therapy, lymphoid malignancies |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2026 |
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| Number of pages: | str. 1-8 |
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| Numbering: | Vol. 105, issue 1 |
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| PID: | 20.500.12556/DiRROS-25345  |
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| UDC: | 616.1 |
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| ISSN on article: | 1432-0584 |
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| DOI: | 10.1007/s00277-026-06757-z |
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| COBISS.SI-ID: | 264774147 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 15. 1. 2026;
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| Publication date in DiRROS: | 16.01.2026 |
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| Views: | 275 |
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| Downloads: | 158 |
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