Retinoblastoma is associated with the development of osteosarcoma, various soft tissue sarcomas, malignant melanoma, various carcinomas, leukemia and lymphoma, and various brain tumors.
The diagnosis of retinoblastoma is most often made by radiology and clinical presentation. An intraocular tumor with calcification is diagnostic.
There is no specific immunohistochemical stain for retinoblastoma. H&E is all that is usually needed, though occasionally immunos may be helpful to rule out other tumors.
In retinoblastoma, poor prognosis is indicated by extraocular extension, via growth directly through the sclera, or by extension through the optic nerve.
Treatment with external beam radiation has numerous side effects, including midface hypoplasia and increased risk of second cancers. Currently, primary treatment is chemotherapy, and surgical enucleation if there is no hope of preserving vision in the eye.