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Background: Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis, with ~10% of cases showing myeloid neoplasms (MNs).
Methods: A 70-year-old woman with cardiac arrhythmia and right atrial mass was diagnosed with ECD by biopsy. Complete blood count showed persistent monocytosis. Targeted next-generation sequencing (NGS) of peripheral blood (PB) for evaluating clonal hematopoiesis (CH) was performed.
Results: The NGS revealed ASXL1 Asn893Cysfs*12 (variant allele frequency [VAF]: 37.2%), TET2 His1031 Glnfs*11 (VAF: 49.0%) and TET2 Tyr1255* (VAF: 47.5%). Bone marrow examination confirmed concomitant chronic myelomonocytic leukemia.
Conclusions: NGS using PB needs to be considered in ECD for the detection of CH and for the diagnosis of coexisting MNs.
DOI: 10.7754/Clin.Lab.2025.250912
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