Intracranial Ewing sarcoma/'peripheral' primitive neuroectodermal tumor of dural origin with molecular genetic confirmation

J Neurooncol. 2001 Jan;51(1):51-6. doi: 10.1023/a:1006432919281.

Abstract

Ewing sarcoma/'peripheral' primitive neuroectodermal tumor (ES/pPNET) is the designation given to a family of small cell neoplasms that typically arise in bone or soft tissue and are unified by their common expression of the MIC2 antigen and specific translocations involving a gene on chromosome 22q12 [the most common being t(11;22)(q24;q12)]. ES/pPNET of intracranial origin is extraordinary. We report the case of a 6-year-old boy with a large left frontal region mass that adhered to dura and was extracerebral at surgery. Histologic study revealed a high-grade, undifferentiated-appearing neoplasm of small cell type that was negative on immunostudy for glial fibrillary acidic protein, synaptophysin, desmin, leukocyte common antigen, smooth muscle actin and epithelial membrane antigen, but positive for vimentin and neuron-specific enolase and diffusely labeled by antibody O13 (which recognizes the MIC2 gene product). RNA-based polymerase chain reaction assay confirmed the diagnosis of ES/pPNET by demonstrating fusion transcripts indicative of t(11;22) translocation. Bone scan, computerized tomography of the chest and bone marrow examination revealed no systemic tumor. The limited observations published to date suggest that primary intracranial ES/pPNET is most likely to present in childhood as a circumscribed, contrast-enhancing and dural-based extracerebral mass. It must be distinguished from a variety of small cell neoplasms, particularly PNETs of central neuroepithelial origin.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / diagnosis*
  • Brain Neoplasms / metabolism
  • Brain Neoplasms / pathology
  • Child
  • Frontal Lobe*
  • Humans
  • Male
  • Neuroectodermal Tumors, Primitive, Peripheral / diagnosis*
  • Neuroectodermal Tumors, Primitive, Peripheral / metabolism
  • Neuroectodermal Tumors, Primitive, Peripheral / pathology
  • Polymerase Chain Reaction*
  • Sarcoma, Ewing / diagnosis*
  • Sarcoma, Ewing / metabolism
  • Sarcoma, Ewing / pathology