Disseminated MRSA and Myelokathexis Preceding AML with t(8;21) and ASXL1 Mutation.
Aditi Tulsiyan, Sudipto Bhattacharya, Nita Radhakrishnan et al.
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Case in brief
A 13-year-old boy presented with two months of fever, pancytopenia, and disseminated MRSA abscesses. Bone marrow showed myelokathexis without blasts; evaluation did not support WHIM syndrome or another inborn error of immunity. After infection control and temporary blood-count recovery, fever and cytopenias recurred. Peripheral blood then contained 85% myeloblasts, and marrow confirmed AML with t(8;21), monosomy Y, del(9q), and an ASXL1 mutation. He achieved remission after cytarabine-based induction and consolidation; HSCT was declined.
What made this case unusual
Myelokathexis and disseminated MRSA infection preceded detectable AML, initially suggesting immune dysfunction. The authors interpreted the myelokathexis as an early clonal abnormality.
Diagnostic / clinical pearl
Persistent or recurrent unexplained cytopenia warrants close follow-up even when marrow shows no blasts; myelokathexis may precede overt AML and should not be assumed to indicate an inherited immune disorder.
Why it matters
The case highlights that t(8;21) does not alone define risk: the accompanying ASXL1 mutation was considered high-risk and supported HSCT in first remission.