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Case Report: aleukemic mast cell leukemia with KIT p.V559G mutation, CD25-negative immunophenotype, and complex
Longyi Zhang1, Lijing Jiang2, Xiaowei Zhang2
1Clinical Laboratory, Affiliated Dongyang Hospital of Wenzhou Medical University, Dongyang, Zhejiang, China.
Frontiers in Oncology
|July 23, 2026
Summary
This case report details a rare instance of mast cell leukemia (MCL) in an elderly patient with a novel KIT mutation and complex cytogenetics. Low-dose imatinib offered temporary disease control, highlighting personalized treatment for high-risk MCL.
Area of Science:
- Hematology
- Oncology
- Molecular Diagnostics
Background:
- Mast cell leukemia (MCL) is an aggressive subtype of systemic mastocytosis, primarily driven by KIT mutations, most commonly KIT p.D816V.
- Rare noncanonical KIT mutations, especially with CD25-negative immunophenotype and high-risk cytogenetics, are poorly understood.