Lack of correlation between Age at Diagnosis and RB1 mutations for Unilateral Retinoblastoma in a Predominantly Hispanic Population: The Importance of Genetic Testing

Abstract

Purpose : To evaluate whether the age at diagnosis for unilateral, sporadic (i.e., non-familial) retinoblastoma (Rb) corresponds with the presence of a germline retinoblastoma tumor suppressor gene (RB1) mutation.

Methods : Retrospective chart review from 1990 to 2017

Results : 187 patients with unilateral, sporadic retinoblastoma with RB1 genetic testing results were identified. A positive RB1 mutation was identified in 35 of 187 patients (18.7%). Unilateral patients who tested positive for an RB1 mutation had a mean age at diagnosis of 25 ± 22 months while unilateral patients who tested negative for a RB1 mutation presented with a mean age of 22 ± 18 months (z = -0.67, p = 0.50.).

Conclusions : Our data did not demonstrate an association between younger age at diagnosis and a higher risk of harboring an RB1 gene mutation in unilateral retinoblastoma patients from a predominantly Hispanic population. Age at diagnosis should not be used to stratify the risk for the presence of a germline mutation for patients with unilateral, sporadic retinoblastoma and all children should undergo genetic testing to identify the risk of future ocular and non-ocular disease for the patient and their families.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.