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伴有突变的急性髓系白血病伴快速进展性嗜酸性粒细胞增多症。

Acute Myeloid Leukemia With Mutation Presenting With Rapidly Progressing Hypereosinophilia.

作者信息

Einarsdottir S, Orrsjö G, von Bahr L, Staffas A, Fogelstrand L

机构信息

Department of Hematology and Coagulation, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.

Institute of Medicine, University of Gothenburg, Sahlgrenska Academy, Gothenburg, Sweden.

出版信息

Case Rep Hematol. 2025 Jun 18;2025:5125740. doi: 10.1155/crh/5125740. eCollection 2025.

Abstract

Hypereosinophilia presents a significant clinical challenge. We describe a case of severe, rapidly progressing hypereosinophilia, with the white blood cell count increasing from 40,000/μL to over 130,000/μL within days, and 70% eosinophils on differential count. The patient initially presented with diffuse symptoms but developed eosinophilic myocarditis during hospitalization. Targeted next-generation sequencing identified a mutation in and according to the WHO 5 edition criteria, the patient was diagnosed with acute myeloid leukemia (AML) with mutation. Whole genome and transcriptome sequencing revealed a concurrent fusion ::. This fusion has been previously described in myeloid diseases with eosinophilia. Despite initial deep response to AML treatment, reaching MRD-negativity for , the patient relapsed shortly after stem cell transplantation and died.

摘要

嗜酸性粒细胞增多症带来了重大的临床挑战。我们描述了一例严重的、迅速进展的嗜酸性粒细胞增多症病例,白细胞计数在数天内从40,000/μL增加到超过130,000/μL,分类计数时嗜酸性粒细胞占70%。患者最初表现为弥漫性症状,但在住院期间发展为嗜酸性粒细胞性心肌炎。靶向二代测序在 中发现了一个突变,根据世界卫生组织第5版标准,该患者被诊断为伴有 突变的急性髓系白血病(AML)。全基因组和转录组测序揭示了一个同时存在的融合基因::。这种融合基因先前已在伴有嗜酸性粒细胞增多的髓系疾病中被描述。尽管患者最初对AML治疗有深度反应,达到了 的微小残留病阴性,但在干细胞移植后不久复发并死亡。

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