Hematology Reports · Published 2026-03-23 · DOI 10.3390/hematolrep18020024
<b>Background:</b> Acute myeloid leukemia (AML) with <i>CBFB</i>::<i>MYH11</i> fusion and myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) are genetically defined and typically mutually exclusive entities. <b>Case Presentation:</b> We report a unique case of <i>de novo</i> AML harboring two clonal, transcriptionally active class-defining fusions: <i>CBFB</i>::<i>MYH11</i> and <i>GOLGA4</i>::<i>PDGFRB</i>. A 61-year-old woman presented with leukocytosis with neutrophilia, eosinophilia, and monocytosis; circulating blasts; and a markedly hypercellular marrow. Cytogenetic analysis revealed inv(16)(p13.1q22) and t(3;5)(p21;q32) in all 20 metaphases, and RNA sequencing confirmed expression of both <i>CBFB</i>::<i>MYH11</i> and <i>GOLGA4</i>::<i>PDGFRB</i> fusions. In addition, an oncogenic <i>WT1</i> frameshift variant was identified. Hematopathologic findings were largely consistent with AML with <i>CBFB</i>::<i>MYH11</i> fusion but exhibited features reminiscent of <i>PDGFRB</i>-rearranged MLN-TK. The patient achieved complete remission following the standard 7 + 3 induction chemotherapy regimen for AML with gemtuzumab ozogamicin. <b>Conclusions:</b> This case illustrates the diagnostic challenges posed by concomitant class-defining alterations in hematologic neoplasms and underscores the importance of integrated genomic assessment.
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