Molecular Analysis of Retinoblastoma

Molecular Analysis of Retinoblastoma

Retinoblastoma is a childhood tumor of the retina that affects approximately 1 in 18,000 children. Retinoblastoma is more prevalent in Central America, where most patients present with advanced intraocular and extraocular disease. Therefore, we have formed collaboration with Central American investigators to provide us with frozen retinoblastoma tumors from patients undergoing routine enucleation. The objective of this protocol is to begin to identify the mutations and gene expression changes that occur in retinoblastoma cells following RB1 gene inactivation in order to more effectively target chemotherapy for treating bilateral retinoblastoma.

This is a biology protocol with no treatment regimen associated. Following routine enucleation of the retinoblastoma affected eye, a portion of the tumor will be removed and flash frozen and sent to St. Jude for RNA and DNA analysis. Some tissue will undergo histopathological analysis and tissue microarrays will be isolated.

Inclusion Criteria:

• Must have clinical diagnosis of retinoblastoma (to be confirmed histologically after enucleation)
• Legal guardians must willing to sign an informed consent indicating that they are aware of this study and its possible benefits. Legal guardians will be given a copy of the consent form.
• Patient is being seen at this AHOPCA institution:

Exclusion Criteria:

• Ophthalmologist or oncologist is concerned that sampling will interfere with staging.
• Diagnosis other than retinoblastoma.
• Affiliated hospital is unable to provide pathologic evidence of retinoblastoma.