Molecular Analysis of Retinoblastoma

St. Jude Children's Research Hospital

Status: Completed

Conditions: Retinoblastoma

Treatments: Other: Tissue samples taken from retinoblastoma; Other: 5 ml peripheral blood

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00718783

MARB

1R01EY018599 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 41 patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

41 participants in 1 patient group

Retinoblastoma

Treatment:

Other: 5 ml peripheral blood

Other: Tissue samples taken from retinoblastoma