Genotype-phenotype Correlations in Heritable Retinoblastoma

Abstract

Abstract: : Purpose: To determine whether mutation analysis can be used to predict disease expression in patients with heritable retinoblastoma (RB). Methods: A retrospective analysis of patients with heritable retinoblastoma was performed using records from University of California, San Francisco Medical Center and The Hospital for Sick Children, University of Toronto, with institutional IRB approval. Age of disease onset and severity of disease at presentation, as well as clinical course, were correlated with underlying RB mutations. Results: A total of 87 patients with complete clinical information had mutation identification by protein truncation testing (PTT), quantitative multiplex-polymerase chain reaction (QM-PCR), and fluorescent in situ hybridization (FISH) or karyotype analysis. Conclusions: Grouping mutations by degree of induced retinoblastoma protein (pRb) dysfunction provides a means to correlate genotype with observed phenotype presentations. Such an approach could allow stratification of patients and identification of those at risk for severe disease outcomes.

Keywords: retinoblastoma • mutations • gene/expression