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KMT2A Amplification in Mixed-Phenotype Acute Leukemia: Immunophenotyping, Cytogenomic Features, and Clinical
Archives of Pathology & Laboratory Medicine
|June 5, 2026
Summary
KMT2A amplification in mixed-phenotype acute leukemia (MPAL) is linked to complex genetic changes and poor prognosis. This finding aids in better risk assessment for MPAL patients.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Mixed-phenotype acute leukemia (MPAL) is a rare leukemia with a poor prognosis.
- KMT2A rearrangements are common in MPAL, but KMT2A amplification data is limited.
Purpose of the Study:
- To investigate the correlation between KMT2A amplification in MPAL and complex karyotypes, TP53 aberrations, and patient survival.
- To refine risk stratification for MPAL patients with KMT2A amplification.
Main Methods:
- Characterization of 3 MPAL cases with KMT2A amplification using flow cytometry, karyotyping, FISH, SNP microarray, and molecular methods.
- Analysis of clinical data for correlation with genetic findings.
Main Results:
- All 3 MPAL cases showed B-lymphoid/myeloid phenotypes and complex karyotypes.
- KMT2A amplification was intrachromosomal, often as homogeneously staining regions (hsr).
- TP53 abnormalities were present in 2 cases; SNP microarray suggested chromoanasynthesis in one.
Conclusions:
- KMT2A-amplified MPAL is associated with complex karyotypes and TP53 abnormalities.
- This genetic profile correlates with an inferior clinical outcome.
- Findings support improved risk stratification for MPAL management.
