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 - Report - 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 Report: Pediatric Acute Myeloid Leukemia with TCF3::ZNF384 Fusion

Overview

This case study discusses an 11-year-old female with acute myeloid leukemia (AML) exhibiting a TCF3::ZNF384 fusion and central nervous system (CNS) involvement. Minimal residual disease persisted after initial treatment.

Background

Acute myeloid leukemia (AML) represents a significant proportion of childhood leukemias and is associated with poorer outcomes compared to acute lymphoblastic leukemia (ALL). The presence of mixed lineage features, particularly genetic alterations like the TCF3::ZNF384 fusion, complicates diagnosis and treatment.

Data Highlights

No numerical data or trial data available in the source material.

Key Findings

  • An 11-year-old female was diagnosed with AML with CNS involvement.
  • Leukemic blasts co-expressed myeloid markers and low-intensity B-lymphoid antigen.
  • Next-generation sequencing revealed a TCF3::ZNF384 fusion with significant read support.
  • Minimal residual disease persisted despite two standard induction regimens.
  • TCF3::ZNF384 fusion is associated with mixed-phenotype acute leukemia and higher relapse risk.
  • Comprehensive molecular testing is essential for accurate diagnosis and treatment planning.

Clinical Implications

This case highlights the importance of molecular testing in pediatric AML cases with atypical features.

Conclusion

This case illustrates the diagnostic and therapeutic challenges in pediatric AML with mixed immunophenotype.

Related Resources & Content

  1. Frontiers in Oncology, 2026 -- Identification of an NFIA::CBFA2T3 fusion in cerebrospinal fluid confirms the diagnosis of pediatric CNS myeloid sarcoma with erythroid differentiation: a case report and literature review
  2. Blood Cancer Journal, 2022 -- Clinical and Biological Characteristics of T-Cell Acute Lymphoblastic Leukemia Associated with Fusion Proteins
  3. Blood Cancer Journal, 2022 -- Interference with pre-B-cell receptor signaling offers a therapeutic option for TCF3-rearranged childhood acute lymphoblastic leukemia
  4. NCI, 2023 -- Childhood Acute Myeloid Leukemia Treatment (PDQ®)
  5. Blood Cancer Journal — Co-occurrence of CSF3R T618I Mutation with Splicing and Epigenetic Gene Alterations and a Novel PIM3 Truncated Fusion in Chronic Neutrophilic Leukemia
  6. Childhood Acute Myeloid Leukemia Treatment (PDQ®) - NCI
  7. What is new in acute myeloid leukemia classification? | Blood Research | Springer Nature Link
  8. 2025 update on MRD in acute myeloid leukemia: a consensus document from the ELN-DAVID MRD Working Party - PubMed

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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