Chang Yuying, Chen Yakun, Zhao Weiwei, Shen Guomin, Guo Sujuan, Wang Wei
Department of Hematology, The 2nd Affiliated Hospital of Harbin Medical University, Harbin, China.
Beijing Diagnostic Center, Department of Hematology of DiAn Diagnostic, Beijing, China.
Front Oncol. 2025 Jul 21;15:1600963. doi: 10.3389/fonc.2025.1600963. eCollection 2025.
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.
骨髓增殖性肿瘤（MPNs）是一组异质性疾病，其特征为终末分化髓系细胞的异常增殖。虽然MPNs中有诸如t(15;17)等细胞遗传学异常的记录，但导致NF1::SCAMP5融合的特定易位此前尚未见报道。在此，我们报告一名69岁女性患者，有贫血和脾肿大，表现为CALR外显子9突变（c.1099_1150del52）且JAK2 V617F阴性。细胞遗传学分析显示t(15;17)(q24;q11.2)，不同于经典的急性早幼粒细胞白血病相关的t(15;17)(q22;q21)，RNA测序证实了一种新的NF1::SCAMP5融合。骨髓活检显示MF-1级纤维化和巨核细胞减少，与典型的原发性骨髓纤维化组织学不同。该患者在接受芦可替尼治疗后病情稳定。本病例突出了一种独特的分子病理特征，提示NF1::SCAMP5可能定义了一种具有独特遗传特征的暂定MPN亚型，有待进一步研究以阐明其临床意义。
