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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.


Hans E Grossniklaus, Bahig Shehata, Poul Sorensen, Chris Bergstrom, G Baker Hubbard. Primitive neuroectodermal tumor/Ewing sarcoma of the retina. Archives of pathology & laboratory medicine. 2012 Jul;136(7):829-31

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PMID: 22742557

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