Work

Acute Myeloid Leukemia With NPM1 Mutation Presenting With Rapidly Progressing Hypereosinophilia

Year: 2025

Type: article

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 NPM1 and according to the WHO 5 th edition criteria, the patient was diagnosed with acute myeloid leukemia (AML) with NPM1 mutation. Whole genome and transcriptome sequencing revealed a concurrent fusion ETV6 :: ACSL6 . This fusion has been previously described in myeloid diseases with eosinophilia. Despite initial deep response to AML treatment, reaching MRD‐negativity for NPM1 , the patient relapsed shortly after stem cell transplantation and died.

Source: Case Reports in Hematology

DOI: 10.1155/crh/5125740

Authors: S. Einarsdottir, G. Orrsjö, L. von Bahr, A. Staffas, L. Fogelstrand

Institutions: Sahlgrenska University Hospital, Region Västra Götaland, University of Gothenburg

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $870