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MLL rearranged acute lymphoblastic leukaemia presenting as a maxillary sinus mass with a discordant immunophenotypic profile from the bone marrow
  1. Yunzu Michele Wang1,
  2. Jun Qin Mo2,
  3. Dennis John Kuo1 and
  4. Victor Wong1
  1. 1 Department of Pediatric Hematology-Oncology, University of California San Diego, San Diego, California, USA
  2. 2 Department of Pathology, University of California San Diego, San Diego, California, USA
  1. Correspondence to Dr Dennis John Kuo, dekuo{at}


We describe an unusual case of pre-B lymphoblastic leukaemia presenting with a unilateral maxillary sinus mass in which biopsies of the primary mass and the bone marrow demonstrated conflicting immunophenotyping results. The extramedullary mass was consistent with a precursor B-cell malignancy, while the bone marrow was initially reported as a possible mature B-cell malignancy. The treatments for the two are fundamentally different, which necessitated a delay in the initiation of his chemotherapy until a clear diagnosis was made. Mixed lineage leukaemia gene rearrangement was confirmed by fluorescence in situ hybridisation in both the primary mass and bone marrow, which unified the diagnosis as pre-B acute lymphoblastic leukaemia given the common cytogenetic feature.

  • paediatric oncology
  • pathology

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  • Patient consent for publication Parental/guardian consent obtained.

  • Contributors All four authors (YMW, JQM, DJK and VW) were all contributors to the conception and design and analysis of the data in this article, drafted and edited the manuscript, approve its final version and attest that the manuscript is accurate.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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