Acute myeloid leukaemia masquerading as a primary CNS tumour

BMJ Case Rep. 2017 Aug 11:2017:bcr2017220891. doi: 10.1136/bcr-2017-220891.

Abstract

In children with newly diagnosed acute myeloid leukaemia (AML), myeloid sarcomas (MS) of the central nervous system (CNS) are rare. Since MS involving the CNS are potentially curable, timely recognition is paramount. Establishing a diagnosis may be problematic as they can easily mimic primary CNS neoplasms. We report the case of a 5-year-old boy with AML with t(8;21)(q22;q22) rearrangement who presented with a massive intracranial MS and rapid clinical deterioration suggestive of a meningioma or a primitive neuroectodermal tumour. The peripheral smear showed blasts with Auer rods. Urgent chemotherapy was started for AML with presumptive CNS MS. The mass resolved with chemotherapy, and treatment was consolidated with radiotherapy. Although exceedingly rare, this case highlights the potential for MS to present similarly to a primary CNS tumour. MS should be part of the differential diagnosis as part of a CNS mass, particularly if the complete blood count is abnormal.

Keywords: haematology (incl blood transfusion); neurooncology; oncology; radiotherapy.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols
  • Biomarkers, Tumor
  • Central Nervous System Neoplasms / diagnosis*
  • Central Nervous System Neoplasms / drug therapy
  • Central Nervous System Neoplasms / physiopathology
  • Child, Preschool
  • Cytarabine / therapeutic use*
  • Daunorubicin / therapeutic use*
  • Etoposide / therapeutic use*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid, Acute / diagnosis*
  • Leukemia, Myeloid, Acute / drug therapy
  • Magnetic Resonance Imaging
  • Male
  • Sarcoma, Myeloid / diagnosis*
  • Sarcoma, Myeloid / drug therapy
  • Sarcoma, Myeloid / physiopathology
  • Treatment Outcome
  • fms-Like Tyrosine Kinase 3

Substances

  • Biomarkers, Tumor
  • Cytarabine
  • Etoposide
  • FLT3 protein, human
  • fms-Like Tyrosine Kinase 3
  • Daunorubicin