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Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
Published on: August 4, 2011
Primitive neuroectodermal tumor/Ewing sarcoma of the retina
Hans E Grossniklaus1, Bahig Shehata, Poul Sorensen
1Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia 30322, USA. ophtheg@emory.edu
Archives of Pathology & Laboratory Medicine
|June 30, 2012
Summary
This study reports the first case of a primary primitive neuroectodermal tumor/Ewing sarcoma of the retina in an 11-year-old boy. Diagnosis involved immunohistochemistry and genetic analysis, distinguishing it from retinoblastoma.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Molecular Pathology
Background:
- Intraocular tumors in children are rare, with retinoblastoma being the most common.
- Accurate diagnosis is crucial for appropriate treatment and prognosis.
Observation:
- An 11-year-old boy presented with an intraocular tumor in his left eye.
- The tumor was a small, round blue cell tumor located in the peripheral retina near the ciliary body.
Findings:
- Immunohistochemistry revealed positivity for neuron-specific enolase, synaptophysin, CD99, Friend leukemia integration 1, and CD56.
- Ultrastructural analysis showed intracytoplasmic dense core granules.
- Polymerase chain reaction confirmed an Ewing sarcoma/Friend leukemia integration gene fusion product.
Implications:
- The tumor was classified as a primitive neuroectodermal tumor/Ewing sarcoma of the retina.
- This case represents the first documented instance of a primary retinal primitive neuroectodermal tumor.
- Distinguishing this tumor from retinoblastoma is critical for patient management.
