Abstract

Study design: Prospective
Purpose: To evaluate the relevance of genetic testing in clinical management of retinoblastoma (RB)
Methods: We studied 411 RB children and their 748 family members over a decade. RB1 genetic testing was done in tumor and blood using the Sanger Sequencing and MLPA. Specific scenarios were identified on integrating clinical and genetic data.
Results & Conclusion: Prenatal testing revealed large deletion in the fetus with paternal inheritance. In a family with 3 affected members, genetic analysis of mother and siblingI helped in good visual prognosis in siblingII. Bilateral RB was timely predicted in a child with Unilateral RB at presentation. No mutation in adult patients helped in risk assessment of RB in next generation and exclusion of developing secondary cancers.