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在伴有嗜酸性粒细胞增多和酪氨酸激酶基因融合的髓系/淋系肿瘤中鉴定一种新型::融合

Identification of a novel :: fusion in myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions.

作者信息

Liu Jialong, Feng Yaqing, Zhang Yanfang, Xiao Yingnan, Liu Xi, Xiao Tingting, Zou Junyan, Fan Kai, Lu Lisha, Yang Xiaoxia, Gong Jinying

机构信息

Hematology Pathology Diagnostic Center, TianjinUnion Precision Medical Diagnostics Co. Ltd, Tianjin, China.

Department of Hematology, The Third People's Hospital of Datong City, Datong, Shanxi, China.

出版信息

Front Oncol. 2025 Mar 25;15:1552928. doi: 10.3389/fonc.2025.1552928. eCollection 2025.

Abstract

A novel fusion gene was identified in a patient with myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK), harboring the chromosome abnormality t(4;7)(q12;q32). This represents the first reported case of the :: fusion gene, and the ninth -associated fusion gene identified in MLN-TK. The fusion event led to the constitutive activation of the PDGFRA kinase, resulting in uncontrolled eosinophil proliferation and potentially contributing to the occurrence of cerebral infarction. Our study indicates treatment with low-dose imatinib effectively alleviates the symptoms associated with gene fusion.

摘要

在一名患有嗜酸性粒细胞增多和酪氨酸激酶基因融合的髓系/淋巴系肿瘤(MLN-TK)患者中鉴定出一种新的融合基因,该患者存在染色体异常t(4;7)(q12;q32)。这是首次报道的::融合基因病例,也是在MLN-TK中鉴定出的第九个相关融合基因。该融合事件导致PDGFRA激酶的组成性激活,导致嗜酸性粒细胞不受控制地增殖,并可能导致脑梗死的发生。我们的研究表明,低剂量伊马替尼治疗可有效缓解与基因融合相关的症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/241c/11975939/83efd8ed0093/fonc-15-1552928-g001.jpg

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本文引用的文献

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Acute myeloid leukemia with a novel fusion transformed from essential thrombocythemia: A case report and mini review.
Leuk Res Rep. 2024 May 31;21:100465. doi: 10.1016/j.lrr.2024.100465. eCollection 2024.
5
Literature reviews of stroke with hypereosinophilic syndrome.
Int J Cardiol Heart Vasc. 2021 Nov 25;37:100915. doi: 10.1016/j.ijcha.2021.100915. eCollection 2021 Dec.
6
FusionGDB 2.0: fusion gene annotation updates aided by deep learning.
Nucleic Acids Res. 2022 Jan 7;50(D1):D1221-D1230. doi: 10.1093/nar/gkab1056.
7
Urothelial carcinoma with an rearrangement and response to targeted therapy.
Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). doi: 10.1101/mcs.a003848. Print 2019 Jun.
9
Transcribing β-cell mitochondria in health and disease.
Mol Metab. 2017 May 31;6(9):1040-1051. doi: 10.1016/j.molmet.2017.05.014. eCollection 2017 Sep.
10
Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation.
Acta Neuropathol. 2016 Nov;132(5):757-760. doi: 10.1007/s00401-016-1616-3. Epub 2016 Sep 13.

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