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病例报告：NUP98::LEDGF融合基因驱动具有混合免疫表型的恶性血液肿瘤。

Case report: NUP98::LEDGF fusion gene drives malignant hematological tumor with mixed immunological phenotype.

作者信息

Xue Song, Chen Jia-Qi, Wang Tong, Zhang Li-Na, Chen Man, Sun Hui-Peng, Cao Xing-Yu

机构信息

Department of Bone Marrow Transplant, Beijing Lu Daopei Hospital, Beijing, China.

Department of Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, China.

出版信息

Front Oncol. 2024 Sep 5;14:1396655. doi: 10.3389/fonc.2024.1396655. eCollection 2024.

DOI:10.3389/fonc.2024.1396655
PMID:39301554
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11410684/
Abstract

This is the first report of NUP98::LEDGF positive malignant hematological tumor expressing T cell and myeloid lineage antigens. Patients carrying this fusion gene have a high relapse rate and a poor prognosis, allo-HSCT may be an option to cure this disease. This patient underwent allo-HSCT, a relapse occurred three months post-transplantation. Subsequent screening at our hospital confirmed the presence of the NUP98::LEDGF fusion gene, salvage therapy was administered, followed by a successful second allo-HSCT. Furthermore, we included eight previously reported cases from the literature for analysis and discuss.

摘要

这是首例表达T细胞和髓系谱系抗原的NUP98::LEDGF阳性恶性血液肿瘤报告。携带这种融合基因的患者复发率高且预后不良，异基因造血干细胞移植（allo-HSCT）可能是治愈该疾病的一种选择。该患者接受了allo-HSCT，移植后三个月复发。随后在我院进行的筛查证实存在NUP98::LEDGF融合基因，给予了挽救性治疗，随后成功进行了第二次allo-HSCT。此外，我们纳入了文献中先前报道的8例病例进行分析和讨论。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66bd/11410684/6b1d65b58bbb/fonc-14-1396655-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66bd/11410684/6b1d65b58bbb/fonc-14-1396655-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66bd/11410684/6b1d65b58bbb/fonc-14-1396655-g001.jpg

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Hemasphere. 2023 Jul 27;7(8):e935. doi: 10.1097/HS9.0000000000000935. eCollection 2023 Aug.
2
Clinical implications of NUP98::NSD1 fusion at diagnosis in adult FLT3-ITD positive AML.NUP98::NSD1融合在成人FLT3-ITD阳性急性髓系白血病诊断时的临床意义
Eur J Haematol. 2023 Oct;111(4):620-627. doi: 10.1111/ejh.14055. Epub 2023 Jul 19.
3
Novel Gene Fusion in Acute Myeloid Leukemia Detected by Optical Genome Mapping.
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Cancers (Basel). 2023 May 27;15(11):2942. doi: 10.3390/cancers15112942.
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Adult acute myeloid leukemia patients with rearrangement have frequent cryptic translocations and unfavorable outcome.成人急性髓系白血病伴重现性遗传学异常患者常有隐匿性易位且预后不良。
Leuk Lymphoma. 2022 Aug;63(8):1907-1916. doi: 10.1080/10428194.2022.2047672. Epub 2022 Mar 8.
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Mechanistic insights and potential therapeutic approaches for NUP98-rearranged hematologic malignancies.NUP98 重排血液系统恶性肿瘤的机制见解和潜在治疗方法。
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6
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