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Jacob Pe'er, Ofira Zloto, Michael Weintraub, Michal Sagi, Israela Lerer, Avishag Nadel, Ido Rot, Naomi Shoshani, Shahar Frenkel; Genetic Characterization among 232 Retinoblastoma Patients. Invest. Ophthalmol. Vis. Sci. 2013;54(15):3976.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the association between the existence of a germline mutation and disease characteristics in patients with retinoblastoma.
The study included 232 patients with retinoblastoma who were treated at a single center between 1988 and 2012. Genetic testing for RB1 mutation was performed in 107 patients. Patients with a RB1 mutation were compared to patients without a mutation, in terms of epidemiological factors and clinical presentation. Several parameters were compared among groups by distribution analysis and Pearson correlation.
Among 107 families whose genetic status was evaluated, 62 patients had a RB1 germline mutation and 45 did not have a mutation (57.94% vs 42.06%). Mutations were found in 92.00% of the patients with bilateral disease, 28.07% of the patients with unilateral disease and in 3 of 4 patients with unilateral multifocal disease (Pearson correlation, p<0.0001). Six patients with mutations showed mosaicism (5 monocular and 1 binocular). The most common type of mutation was a stop codon mutation (41.94%). 85.0% of the patients with macular involvement had a mutation (Pearson correlation, p=0.0106). No significant differences were found in gender, age or reason for referral.
As expected, mutations were found in most of the patients with bilateral disease. Surprisingly, our genetic tests also revealed mutations in 28.07% of patients with unilateral retinoblastoma. These patients have an increased risk for other cancers throughout their life, and their first-degree relatives have an increased risk for retinoblastoma. Therefore, genetic testing for RB1 mutation should be offered to all patients, including the unilateral cases.
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