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 - Scorecard - 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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Clinical Scorecard: Case Study: Pediatric Acute Myeloid Leukemia Exhibiting Mixed Immunophenotype and TCF3::ZNF384 Fusion with Central Nervous System Involvement: Diagnostic and Treatment Challenges

At a Glance

CategoryDetail
Condition
Key MechanismsMixed lineage features with TCF3::ZNF384 fusion and central nervous system involvement.
Target Population
Care Setting

Key Highlights

  • AML accounts for 15%-20% of childhood acute leukemias.
  • TCF3::ZNF384 fusion is associated with mixed-phenotype acute leukemia (MPAL).
  • Comprehensive molecular testing is crucial for accurate diagnosis.
  • CNS involvement complicates diagnosis and management.

Guideline-Based Recommendations

Diagnosis

  • Utilize flow cytometry and next-generation sequencing for characterization.
  • Identify mixed lineage features to avoid misclassification.

Management

  • Consider combined or sequential AML/ALL treatment regimens for TCF3::ZNF384 fusion cases.

Monitoring & Follow-up

  • Implement meticulous minimal residual disease (MRD) surveillance.

Risks

  • Higher risk of relapse and treatment resistance in mixed-phenotype cases.

Patient & Prescribing Data

Children with AML and mixed immunophenotype.

Standard induction regimens may not suffice; tailored approaches are necessary.

Clinical Best Practices

  • Integrate immunophenotypic, cytogenetic, and molecular data for diagnosis.
  • Early RNA-based fusion testing is recommended in atypical AML cases.

Related Resources & Content

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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