在嗜酸性粒细胞增多和酪氨酸激酶基因融合的髓/淋巴肿瘤中鉴定一种新的NRF1::PDGFRA融合。

IF 3.5 3区医学 Q2 ONCOLOGY

Frontiers in Oncology Pub Date : 2025-03-25 eCollection Date: 2025-01-01 DOI:10.3389/fonc.2025.1552928

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

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引用次数: 0

摘要

在嗜酸性粒细胞增多和酪氨酸激酶基因融合（MLN-TK）的骨髓/淋巴肿瘤患者中发现了一个新的融合基因NRF1::PDGFRA，包含染色体异常t(4;7)（q12;q32）。这是报道的第一例NRF1::PDGFRA融合基因，也是在MLN-TK中发现的第九例PDGFRA相关融合基因。融合事件导致PDGFRA激酶的组成性激活，导致嗜酸性粒细胞增殖失控，并可能导致脑梗死的发生。本研究表明，低剂量伊马替尼治疗可有效缓解NRF1::PDGFRA基因融合相关症状。

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Identification of a novel NRF1::PDGFRA fusion in myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions.

A novel fusion gene NRF1::PDGFRA 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 NRF1::PDGFRA fusion gene, and the ninth PDGFRA-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 NRF1::PDGFRA gene fusion.

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来源期刊

Frontiers in Oncology Biochemistry, Genetics and Molecular Biology-Cancer Research

CiteScore

6.20

自引率

10.60%

发文量

6641

审稿时长

14 weeks

期刊介绍： Cancer Imaging and Diagnosis is dedicated to the publication of results from clinical and research studies applied to cancer diagnosis and treatment. The section aims to publish studies from the entire field of cancer imaging: results from routine use of clinical imaging in both radiology and nuclear medicine, results from clinical trials, experimental molecular imaging in humans and small animals, research on new contrast agents in CT, MRI, ultrasound, publication of new technical applications and processing algorithms to improve the standardization of quantitative imaging and image guided interventions for the diagnosis and treatment of cancer.