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1例t(5;12)(q31;p13)的未另行指定的慢性嗜酸性粒细胞白血病中的新型融合:病例报告及文献复习

A Novel Fusion in Chronic Eosinophilic Leukemia Not Otherwise Specified With t(5; 12) (q31; p13): A Case Report and Literature Review.

作者信息

Zhao Cenzhu, Wang Man, Zhan Yuchen, Xu Yang, Chen Suning, Wang Qinrong, An Jingnan, Liu Tianhui

机构信息

National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.

Institute of Blood and Marrow Transplantation, Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.

出版信息

Front Oncol. 2022 Jun 7;12:887945. doi: 10.3389/fonc.2022.887945. eCollection 2022.

Abstract

Chronic eosinophilic leukemia not otherwise specified (CEL-NOS) is classified as Myeloproliterative Neoplasms (MPN) and refers to chronic eosinophilic leukemia with some atypical recurrent genetic evidence(1). A rare fusion of - was previously identified in patients with the t(5;12) (q31; p13) karyotype(2). Here, we report a case of CEL-NOS with a translocation of t(5;12) (q31; p13) and identify transcription, which has not been identified in hematologic diseases. In this patient, eosinophilia was observed. And compared with CEL-NOS patients without fusion, a higher mRNA expression level of was found. After failing treatment with dasatinib, the patient was given hydroxyurea (HU). Subsequently his white blood cell (WBC) and eosinophils decreased significantly and remained in the normal range until publication. Due to the side effects, treatment with HU was replaced by PEG-interferon (PEG-IFN). What's more, we summarized the case in our study and 21 patients with the karyotype of t(5; 12) (q31; p13) reported by other groups. It was found that most of them had similar clinical manifestations of eosinophilia and tyrosine kinase inhibitor (TKI) insensitivity. The ectopic mRNA expression of may be the main cause of eosinophilia, and HU and prednisone acetate (PAT), as well as IFN, were considered treatments for this group.

摘要

未另行指定的慢性嗜酸性粒细胞白血病(CEL-NOS)被归类为骨髓增殖性肿瘤(MPN),指的是具有一些非典型复发性遗传证据的慢性嗜酸性粒细胞白血病(1)。先前在具有t(5;12)(q31;p13)核型的患者中发现了一种罕见的融合(2)。在此,我们报告一例具有t(5;12)(q31;p13)易位的CEL-NOS病例,并鉴定了在血液系统疾病中尚未发现的转录。在该患者中,观察到嗜酸性粒细胞增多。与没有融合的CEL-NOS患者相比,发现的mRNA表达水平更高。在达沙替尼治疗失败后,该患者接受了羟基脲(HU)治疗。随后他的白细胞(WBC)和嗜酸性粒细胞显著下降,并在发表时一直保持在正常范围内。由于副作用,HU治疗被聚乙二醇干扰素(PEG-IFN)取代。此外,我们总结了本研究中的病例以及其他研究小组报告的21例具有t(5;12)(q31;p13)核型的患者。发现他们大多数具有嗜酸性粒细胞增多和酪氨酸激酶抑制剂(TKI)不敏感的相似临床表现。的异位mRNA表达可能是嗜酸性粒细胞增多的主要原因,HU和醋酸泼尼松(PAT)以及IFN被认为是该组的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b711/9213071/67b9a243dd9f/fonc-12-887945-g001.jpg

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