Clonal histiocytosis associated with evolving acute myeloid leukemia: a case report and literature review
DOI:
https://doi.org/10.46765/2675-374X.2025v7n1e323Abstract
Histiocytoses are rare disorders that may occur in association with hematologic malignancies, although reports preceding acute myeloid leukemia (AML), particularly in adults, remain scarce. We report the case of a 58-year old female patient who presented with persistent fever, weight loss, and progressive lethargy. Initial laboratory evaluation demonstrated pancytopenia, and bone marrow studies revealed erythroid and megakaryocytic dysplasia, plasmacytosis, and hemophagocytic activity, along with extensive histiocytic infiltration containing Langerhanslike giant cells. Immuno phenotyping at that time was negative for leukemia, and immuno histochemistry showed CD163 and S100 positivity, with no CD1a expression. The patient was initially managed with dexamethasone due to a suspected hemophagocytic lymphohistiocytosis (HLH)-like inflammatory syndrome, without adequate clinical response. Cytogenetic analysis revealed a clonal abnormality involving 11q23 in a subset of metaphases. After approximately 8 weeks, disease evolution was observed, and repeat bone marrow examination demonstrated 20% myeloblasts, with immunophenotypic findings consistent with AML. The patient, considered clinically pre-frail, received low-intensity chemotherapy with cytarabine in combination with venetoclax. Despite treatment, measurable residual disease persisted after two cycles, and she developed progressive clinical deterioration complicated by recurrent multidrug resistant infections, ultimately evolving to death. This case highlights the diagnostic complexity of early clonal myeloid neoplasms presenting with histiocytic and hemophagocytic features and emphasizes the importance of recognizing HLH as a possible secondary and unconfirmed inflammatory syndrome in the setting of evolving hematologic malignancy. Further studies are needed to clarify the biological mechanisms linking histiocytic proliferations and progression to myeloid neoplasms.
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Copyright (c) 2026 Maria Laura Rocha, Emanuelly Thays Muniz Figueiredo Silva Vasconcelos, Gustavo Mesquita de Oliveira, Felipe de Menezes Cunha, Karla Hauanna Almeida Chaves do Vale, Francisco Dário Rocha Filho, Fernando Barroso Duarte
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