Case Report: aleukemic mast cell leukemia with KIT p.V559G mutation, CD25-negative immunophenotype, and complex karyotype - Takeaways - MDSpire

Case Report: aleukemic mast cell leukemia with KIT p.V559G mutation, CD25-negative immunophenotype, and complex karyotype

  • By

  • Longyi Zhang

  • Lijing Jiang

  • Xiaowei Zhang

  • Yan Lu

  • Xiaoxia Wang

  • July 8, 2026

  • 0 min

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  • 1

    Mast cell leukemia (MCL) is the most aggressive subtype of systemic mastocytosis, often driven by KIT mutations.

  • 2

    The case study reports an 81-year-old woman with aleukemic MCL featuring a rare KIT p.V559G mutation and a CD25-negative immunophenotype.

  • 3

    Laboratory findings included severe pancytopenia and a high percentage of abnormal mast cells in the bone marrow.

  • 4

    Cytogenetic analysis revealed complex clonal abnormalities, including monosomy 7, which worsens prognosis.

  • 5

    The patient showed clinical improvement with low-dose imatinib and supportive care, remaining stable during a four-month follow-up.

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