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.
Study Type
OBSERVATIONAL
Enrollment
41
Tissue banking
White blood cells will be isolated from the blood sample as a source of genomic DNA.
Hospital Calvo Mackenna
Santiago, Santiago Metropolitan, Chile
Hospital Escuela Bloque Materno Infantil
Tegucigalpa, Honduras
Identify genes exhibiting differential expression within intraocular disease tissue between patients having only intraocular involvement and those having extraocular involvement.
Time frame: Indefinite
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