Primitive neuroectodermal tumor/Ewing sarcoma of the retina

Arch Pathol Lab Med. 2012 Jul;136(7):829-31. doi: 10.5858/arpa.2011-0403-CR.

Abstract

An 11-year-old boy underwent enucleation of his left eye for an intraocular tumor. Examination showed a small, round blue cell tumor arising in the peripheral retina near the ciliary body. Immunohistochemical stain results were positive for neuron-specific enolase, synaptophysin, cluster of differentiation 99 (CD99), Friend leukemia integration 1, and CD56. Ultrastructural findings included occasional intracytoplasmic dense core granules. Polymerase chain reaction of the tumor showed a Ewing sarcoma/Friend leukemia integration gene fusion product. The tumor was classified as a primitive neuroectodermal tumor/Ewing sarcoma of the retina and should be distinguished from retinoblastoma. To our knowledge, this is the first case of primary primitive neuroectodermal tumor of the retina.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Humans
  • Male
  • Neuroectodermal Tumors, Primitive, Peripheral / genetics
  • Neuroectodermal Tumors, Primitive, Peripheral / metabolism
  • Neuroectodermal Tumors, Primitive, Peripheral / pathology*
  • Oncogene Proteins, Fusion / genetics
  • Oncogene Proteins, Fusion / metabolism
  • Phosphopyruvate Hydratase / genetics
  • Phosphopyruvate Hydratase / metabolism
  • Proto-Oncogene Protein c-fli-1 / genetics
  • Proto-Oncogene Protein c-fli-1 / metabolism
  • Retinal Neoplasms / genetics
  • Retinal Neoplasms / metabolism
  • Retinal Neoplasms / pathology*
  • Sarcoma, Ewing / genetics
  • Sarcoma, Ewing / metabolism
  • Sarcoma, Ewing / pathology*

Substances

  • Oncogene Proteins, Fusion
  • Proto-Oncogene Protein c-fli-1
  • Phosphopyruvate Hydratase