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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.

DOI:10.3389/fonc.2025.1552928
PMID:40201346
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11975939/
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
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/241c/11975939/83efd8ed0093/fonc-15-1552928-g001.jpg
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.原发性血小板增多症转化为急性髓系白血病伴新型融合基因:一例报告及文献综述
Leuk Res Rep. 2024 May 31;21:100465. doi: 10.1016/j.lrr.2024.100465. eCollection 2024.
2
Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions: reevaluation of the defining characteristics in a registry-based cohort.伴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:基于登记处队列的重新评估定义特征。
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3
International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data.
国际髓系肿瘤和急性白血病分类:整合形态学、临床和基因组数据。
Blood. 2022 Sep 15;140(11):1200-1228. doi: 10.1182/blood.2022015850.
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The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms.世界卫生组织血液淋巴肿瘤分类第五版:髓系和组织细胞/树突状肿瘤。
Leukemia. 2022 Jul;36(7):1703-1719. doi: 10.1038/s41375-022-01613-1. Epub 2022 Jun 22.
5
Literature reviews of stroke with hypereosinophilic syndrome.嗜酸性粒细胞增多综合征伴发卒中的文献综述。
Int J Cardiol Heart Vasc. 2021 Nov 25;37:100915. doi: 10.1016/j.ijcha.2021.100915. eCollection 2021 Dec.
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