CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1600963
This article is part of the Research TopicMyelodysplastic Neoplasm and Acute Myeloid Leukemia: Multi-Omics Approaches and Precision MedicineView all 5 articles
A Novel t(15;17)(q24;q11.2) Translocation Involving NF1::SCAMP5 Fusion in a Patient with Myeloproliferative neoplasms: a case report
Provisionally accepted
- 1Depaerment of hematology, Harbin Medical University, harbin, China
- 2Dian Diagnostics Group Co.,Ltd., Hangzhou, China
- 3Department of Cell Biology, School of Basic Medicine Harbin Medical University, Harbin, China
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Myeloproliferative Neoplasms (MPNs) are a heterogeneous group of disorders characterized by abnormal proliferation of terminally differentiated myeloid cells. While cytogenetic abnormalities such as t(15;17) are documented in MPNs, the specific translocation resulting in NF1::SCAMP5 fusion has not been previously reported. Here, we present a 69-year-old female with anemia and splenomegaly, exhibiting CALR exon 9 mutation (c.1099_1150del52) and JAK2 V617F negativity.Cytogenetic analysis revealed t(15;17)(q24;q11.2), distinct from the classical APL-associated t(15;17)(q22;q21), with RNA-Seq confirming a novel NF1::SCAMP5 fusion. Bone marrow biopsy showed MF-1 fibrosis and megakaryocyte depletion, deviating from typical PMF histology. The patient achieved stable disease post-ruxolitinib treatment. This case highlights a unique molecularpathological profile, suggesting NF1::SCAMP5 may define a provisional MPN subtype with distinct genetic features, warranting further study to elucidate its clinical significance.
Keywords: Myeloproliferative neoplasms, t(15, 17), NF1::SCAMP5, Primary Myelofibrosis, novel fusion
Received: 27 Mar 2025; Accepted: 24 Jun 2025.
Copyright: © 2025 Chang, Chen, Zhao, Shen, Guo and Wang. 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:
Sujuan Guo, Dian Diagnostics Group Co.,Ltd., Hangzhou, China
Wei Wang, Depaerment of hematology, Harbin Medical University, harbin, China
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