Sporadic unilateral retinoblastoma or first sign of bilateral disease?. Issue 4 (26th January 2013)

• Record Type: Journal Article
• Authors: Temming, Petra; Viehmann, Anja; Biewald, Eva; Lohmann, Dietmar R
• Is Part Of: British journal of ophthalmology. Volume 97:Issue 4(2013)
• Page Start: 475
• Page End: 480
• Publication Date: 2013-01-26
• Subjects: Child Health (Paediatrics) -- Genetics -- Neoplasia -- Retina; Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjophthalmol-2012-302666
• Languages: English
• ISSNs: 0007-1161

Abstract

Abstract : Background: A small number of children with unilateral retinoblastoma later develop retinoblastoma in the contralateral eye (metachronous bilateral retinoblastoma). Methods: We analysed the clinical and genetic characteristics of children with sporadic unilateral retinoblastoma to identify risk factors for the development of metachronous bilateral disease. Results: Fifteen (3.1%) of 480 children with unilateral retinoblastoma later developed metachronous bilateral retinoblastoma (latency period >30 days). The maximum latency period was 2.3 years after initial diagnosis. Nine (22.5%) of 40 children with a RB1 mutation detectable in blood developed metachronous bilateral disease while all 155 children proved to be without a germline RB1 mutation remained unilaterally affected. Clinically, the risk of developing metachronous bilateral retinoblastoma was higher for age at diagnosis ≤0.5 years compared with >0.5 years (19.6% vs 1.2%), and for multifocal compared with unifocal unilateral retinoblastoma (17.1% vs 2.2%). Conclusions: This study shows that an oncogenic RB1 mutation in the blood is a risk factor for metachronous bilateral retinoblastoma. Additional clinical risk factors for metachronous bilateral disease are diagnosis at young age (≤0.5 years) and multifocal unilateral retinoblastoma. Early genetic analysis may identify children at high risk of developing metachronous bilateral disease and may help to preserve vision using risk-adapted follow-up and early treatment.