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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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