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 - Takeaways - MDSpire

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

  • By

  • Aser Alonso-Carballo

  • Natalia Mateos

  • Paula Gómez

  • Sara Montolio

  • Jose Antonio Salinas

  • Antonio Gutiérrez

  • Antonia Sampol

  • Jordi Martínez-Serra

  • May 28, 2026

  • 0 min

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  • 1

    An 11-year-old female patient with AML exhibited mixed immunophenotype and TCF3::ZNF384 fusion with CNS involvement.

  • 2

    The patient initially received two standard induction regimens but showed persistent minimal residual disease after the first regimen.

  • 3

    Next-generation sequencing revealed a TCF3::ZNF384 fusion, commonly associated with mixed-phenotype acute leukemia and higher relapse risk.

  • 4

    The case emphasizes the need for comprehensive molecular testing and integration of myeloid and lymphoid treatment strategies.

  • 5

    Early RNA-based fusion testing is crucial for accurate diagnosis and management in atypical AML cases with B-lineage features.

Original Source(s)

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

  • by Aser Alonso-Carballo, Natalia Mateos, Paula Gómez, Sara Montolio, Jose Antonio Salinas, Antonio Gutiérrez, Antonia Sampol, Jordi Martínez-Serra

  • May 28, 2026

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