Case Report: Acute myeloid leukemia with mixed immunophenotypic features and TCF3::ZNF384 fusion in a pediatric patient with CNS involvement: a diagnostic and therapeutic challenge - Summary - MDSpire
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Case Report: Acute myeloid leukemia with mixed immunophenotypic features and TCF3::ZNF384 fusion in a pediatric patient with CNS involvement: a diagnostic and therapeutic challenge
To present a case of pediatric AML with mixed immunophenotype and TCF3::ZNF384 fusion, highlighting diagnostic and treatment challenges without unsupported implications.
Key Findings:
The patient had a TCF3::ZNF384 fusion, indicating a mixed phenotype acute leukemia.
Initial molecular testing was negative for common mutations associated with AML and ALL.
MRD was documented as negative after the second induction cycle, despite persistence after the first.
Interpretation:
The presence of the TCF3::ZNF384 fusion complicates the diagnosis and treatment of AML.
Limitations:
The case highlights the challenges of diagnosing mixed lineage leukemias.
Initial molecular testing did not reveal all potential abnormalities, indicating the need for comprehensive testing.
Conclusion:
This case highlights the need for early RNA-based fusion testing in atypical AML presentations, particularly with CNS involvement.
