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March 28, 2026BMC PediatricsOpen Access

Acute megakaryoblastic leukemia with myeloid sarcoma among a pediatric patient harbouring RBM15::MRTFA: a case report and literature review

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Authors

XYXiao-qing YangJLJia-qi LiuYLYang Li

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Overview

A case report shows AMKL with myeloid sarcoma in a pediatric patient, highlighting critical genetic profiling for diagnosis and treatment.

Key Points

  • To report a rare case of acute megakaryoblastic leukemia (AMKL) associated with the RBM15::MRTFA fusion gene in a pediatric patient.
  • Case report of a 2-year-old boy with a cranial mass initially misdiagnosed as LCH.
  • Surgical resection was performed followed by biopsy and next-generation sequencing analysis.
  • Bone marrow examination confirmed leukemic involvement after genetic diagnosis.
  • Initial imaging suggested a different diagnosis before identifying AMKL.
  • Next-generation sequencing confirmed RBM15::MRTFA fusion gene.
  • The patient achieved complete remission following chemotherapy and hematopoietic stem cell transplantation.

Cite This Study

Yang et al. (2026) studied this question.

synapsesocial.com/papers/69c772058bbfbc51511e2264https://doi.org/10.1186/s12887-026-06656-2
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