Clinical Report: Detection of an NFIA::CBFA2T3 Fusion in CNS Myeloid Sarcoma

Overview

This report describes a rare case of myeloid sarcoma with erythroid differentiation in a pediatric patient, diagnosed through cerebrospinal fluid analysis and RNA sequencing. The identification of the NFIA::CBFA2T3 fusion highlights the importance of molecular testing in complex cases.

Background

Myeloid sarcoma with erythroid differentiation is an exceptionally rare presentation of acute erythroid leukemia, particularly in children. Diagnosing this condition is challenging, especially when bone marrow involvement is absent. Understanding its molecular characteristics is crucial for accurate diagnosis and treatment planning.

Data Highlights

No numerical data available.

Key Findings

• The patient was a 1-year-old boy with diffuse brain infiltration of myeloid sarcoma.
• Cerebrospinal fluid flow cytometry revealed a significant population of immature erythroid cells.
• RNA sequencing identified an NFIA::CBFA2T3 fusion, a genetic alteration associated with myeloid sarcoma with erythroid differentiation.
• The patient was negative for TP53 mutation and chromosome 17 loss.
• Both flow cytometry and RNA sequencing were pivotal in establishing the diagnosis.

Clinical Implications

This case underscores the necessity of utilizing cerebrospinal fluid analysis and molecular genetic testing in diagnosing pediatric myeloid sarcoma with erythroid differentiation. Clinicians should consider these approaches, especially when traditional tissue biopsy is not feasible.

Conclusion

The identification of the NFIA::CBFA2T3 fusion in this case validates the diagnosis of myeloid sarcoma with erythroid differentiation and emphasizes the role of advanced molecular techniques in pediatric oncology.

Related Resources & Content

1. Frontiers in Oncology, 2026 -- The NFIA::CBFA2T3 identifies a molecularly defined subgroup of acute erythroid leukemia/erythroid sarcoma
2. Acta Neuropathologica, 2022 -- The Landscape of Oncogenic Fusions in Pediatric Central Nervous System Tumors
3. Acta Neuropathologica, 2021 -- Pediatric Li Fraumeni Syndrome Patients with H3F3A G34R Mutation or MYCN Amplification Presenting Malignant Gliomas
4. Blood Cancer Journal, 2024 -- Measurement of Blood Neurofilament Light Chains in Adults Diagnosed with CNS Histiocytic Neoplasms
5. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms - PMC
6. Acute Myeloid Leukemia, Version 3.2023, NCCN Clinical Practice Guidelines in Oncology - PubMed
7. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms - PMC
8. Acute Myeloid Leukemia, Version 3.2023, NCCN Clinical Practice Guidelines in Oncology - PubMed