Adult Ovarian Retinoblastoma Genomic ProfileAdult Ovarian Retinoblastoma

Retinoblastoma, although rare, is the most common primary intraocular malignancy occurring in childhood. Due to earlier detection and aggressive treatment strategies, dissemination and mortality from intraocular retinoblastoma have been essentially eliminated in developed countries. Retinoblastoma arises within the first few years of life from inactivation of both allelic copies of the retinoblastoma tumor suppressor gene (RB1) within the developing retina. Unilateral, unifocal retinoblastoma usually arises due to sequential somatic mutations of RB1 within single dividing retinal progenitor cells. Bilateral, multifocal cases develop exclusively (with close to 100% penetrance) in patients with either inherited or acquired germline mutations in 1 copy of RB1. These patients are at risk of passing on the autosomal dominant trait to their children. Overall, at least 40% of cases are heritable.¹