Case Reports Journal Article Epublish
PubMed: 40761243 DOI: 10.3389/fonc.2025.1600963
Case Report: A novel t(15;17)(q24;q11.2) translocation involving NF1::SCAMP5 fusion in a patient with myeloproliferative neoplasms.
Front Oncol 15:1600963
Authors: Yuying Chang, Yakun Chen, Weiwei Zhao, Guomin Shen, Sujuan Guo, Wei Wang
Affiliations
- Department of Hematology, The 2nd Affiliated Hospital of Harbin Medical University, Harbin, China.
- Beijing Diagnostic Center, Department of Hematology of DiAn Diagnostic, Beijing, China.
- Department of Cell Biology, School of Basic Medicine Harbin Medical University, Harbin, China.
Abstract
Myeloproliferative neoplasms (MPNs) are a heterogeneous group of disorders characterized by the 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 patient 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 primary myelofibrosis histology. The patient achieved stable disease post-ruxolitinib treatment. This case highlights a unique molecular-pathological profile, suggesting NF1::SCAMP5 may define a provisional MPN subtype with distinct genetic features, warranting further study to elucidate its clinical significance.
MeSH
Fibrosis, Neoplasms, Primary Myelofibrosis