Retinoblastoma

Diagnosis:

Suggested by MRI and confirmed by pathology (brain biopsy/resection)

Findings on Investigations:

Eye, optic nerve, pineal gland

Pathology:

Grossly: White tan mass
Histology:

  • Small round blue cells, rosette (Homer-Wright around neuritic processes & Flexner-Wintersteiner around a central lumen), necrosis, frequent mitosis

Immunohistochemistry: NSE, NeuN, synaptophysin
Genetics: RB gene mutation 13q14, germline.

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