Improving Long-Term Outcomes in Retinoblastoma Survivors
Retinoblastoma is a rare intraocular malignancy that begins in the developing retina. It results from the loss or mutation of both copies of RB1, a tumor suppressor gene. Cure rates for retinoblastoma, treated with enucleation and/or external beam radiotherapy (EBRT) approach 100%, but are accompanied by adverse long-term sequelae (e.g. visual defects, cataracts, impaired psychosocial and neurocognitive function etc.). As a result, the true metric of success of therapy should be measured by long-term event-free survival. However, minimal data exists regarding the long-term sequelae of contemporary therapies. We hypothesize that contemporary therapies without enucleation or EBRT will be associated with less long-term morbidity. In this ongoing pilot cohort study, we aim to enroll 30 patients with their adult caregiver and sibling to obtain preliminary data for a planned international cohort study that will define long-term outcomes for survivors treated with contemporary therapy. Enrolled patients consist of survivors of retinoblastoma diagnosed between 0-4 years of age, treated at Vanderbilt after 2002, and meet other inclusion criteria. All participants are asked to complete a set of baseline questionnaires. Furthermore, medical record abstractions are completed for each enrolled survivor to document late effects of treatment. To date, 20 patients have been enrolled, with preliminary analyses run on 18 enrolled patients, caregivers and siblings. Our long-term goal of this proposed research is to understand the long-term outcomes of retinoblastoma survivors and determine whether we have truly been successful in improving and addressing which therapy is the optimal choice for most children.