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August 29, 2026Pediatric and Developmental Pathology

Spatial Lineage Divergence at Diagnosis in a Pediatric KMT2A -Rearranged Leukemia Presenting with Concurrent AML and B-LBL

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Authors

HZHuan ZhangShenzhen Children's HospitalQMQiuling MiaoShenzhen Children's HospitalYWYue WangShenzhen Children's Hospital

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Implication

Case report demonstrates spontaneous spatial lineage divergence in a pediatric patient with KMT2A-rearranged leukemia, highlighting the need for multi-site biopsy in extramedullary disease.

Key Points

  • Characterize an unprecedented case of spontaneous spatial lineage divergence at initial diagnosis in a pediatric patient with KMT2A-rearranged leukemia.
  • Clinical, histopathological, and molecular profiling of bone marrow and extramedullary calf mass specimens in a 1-year-2-month-old male (N=1).
  • The bone marrow biopsy revealed acute myeloid leukemia, whereas the concurrent right calf mass was diagnosed as B-lymphoblastic leukemia/lymphoma.
  • Both anatomical sites harbored an identical KMT2A::MLLT10 gene fusion, establishing a shared clonal origin and spontaneous spatial divergence prior to treatment.

Cite This Study

Zhang et al. (2026) studied this question.

synapsesocial.com/papers/6a92996e8e5d7d1fc0c116cbhttps://doi.org/10.1177/10935266261478989
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