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 - Takeaways - MDSpire

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

  • By

  • Yang Zhao

  • Zhizhuo Huang

  • Lian Xue

  • Leping Zhang

  • Yueping Jia

  • May 12, 2026

  • 0 min

Share

  • 1

    Myeloid sarcoma with erythroid differentiation is a rare pediatric condition, often presenting in the CNS without bone marrow involvement.

  • 2

    Cerebrospinal fluid flow cytometry revealed immature erythroid cells, aiding in the diagnosis of myeloid sarcoma in a 1-year-old boy.

  • 3

    RNA sequencing identified an NFIA::CBFA2T3 fusion, a genetic alteration linked to myeloid sarcoma with erythroid differentiation.

  • 4

    The patient was negative for TP53 mutation and chromosome 17 loss, highlighting unique genetic features in pediatric acute erythroid leukemia.

  • 5

    This case emphasizes the importance of multimodal diagnostic approaches, including flow cytometry and RNA sequencing, in complex pediatric cases.

Original Source(s)

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

  • by Yang Zhao, Zhizhuo Huang, Lian Xue, Leping Zhang, Yueping Jia

  • May 12, 2026

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