Einarsdottir S, Orrsjö G, von Bahr L, Staffas A, Fogelstrand L
Department of Hematology and Coagulation, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.
Institute of Medicine, University of Gothenburg, Sahlgrenska Academy, Gothenburg, Sweden.
Case Rep Hematol. 2025 Jun 18;2025:5125740. doi: 10.1155/crh/5125740. eCollection 2025.
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.
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。