Case Report: aleukemic mast cell leukemia with KIT p.V559G mutation, CD25-negative immunophenotype, and complex karyotype
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By
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Longyi Zhang
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Lijing Jiang
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Xiaowei Zhang
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Yan Lu
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Xiaoxia Wang
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July 8, 2026
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Clinical Scorecard: Case Study: Aleukemic Mast Cell Leukemia Featuring KIT p.V559G Mutation, CD25-Negative Immunophenotype, and Complex Cytogenetic Profile
At a Glance
| Category | Detail |
|---|
| Condition | Mast Cell Leukemia (MCL) |
| Key Mechanisms | KIT mutations, particularly p.D816V and rare noncanonical mutations like p.V559G. |
| Target Population | Older patients with high-risk MCL. |
| Care Setting | Integrated diagnostic and treatment settings. |
Key Highlights
- Aleukemic MCL case with rare KIT p.V559G mutation.
- Patient presented with severe pancytopenia and atypical mast cells.
- Complex karyotype with monosomy 7 identified.
- Partial hematologic recovery achieved with low-dose imatinib.
- Importance of comprehensive diagnostic workup emphasized.
Guideline-Based Recommendations
Diagnosis
- Integrated diagnostic approach including flow cytometry and cytogenetic analysis.
Management
- Individualized low-intensity targeted therapy may offer short-term disease control.
Monitoring & Follow-up
- Regular follow-up for clinical improvement and disease progression.
Risks
- Life-threatening complications such as sepsis and gastrointestinal bleeding.
Patient & Prescribing Data
Older patients with high-risk MCL.
Low-dose imatinib plus intensive supportive care led to clinical improvement.
Clinical Best Practices
- Emphasize the value of integrated diagnosis in MCL.
- Monitor for complications in patients with high-risk features.
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