Late-Onset Retinoblastoma: Clinical and Genetic Features in Children Presenting Over 5 Years Old.
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OBJECTIVE: To define the clinical features and genetics of children with retinoblastoma diagnosed at ≥5 years of age. DESIGN: Retrospective review. SUBJECTS: Children ≥5 years of age treated for retinoblastoma at a single institution between January 1999 and January 2022. METHODS: A chart review including demographics, genetic testing, laterality, presenting signs and symptoms, initial diagnosis if not retinoblastoma, and procedures performed on affected eyes before diagnosis of retinoblastoma. MAIN OUTCOME MEASURES: Tumor classification, treatments and outcomes, and genetic data on tumors. RESULTS: Of the 529 retinoblastoma patients identified, 25 (4.7%) were diagnosed at ≥5 years of age (median age 6.0 years, range 5.1-11.3 years). Most patients (24 of 25, 96%) presented with unilateral disease. Nine of 25 (36%) were misdiagnosed before presentation. Pathogenic RB1 germline mutations were identified in 6 of the 24 (25%) patients who underwent testing; 1 child had a positive family history. Further evaluation in 6 tumors (from 6 patients) identified hypermethylation of the RB1 gene promoter in 2 patients. CONCLUSIONS: Older children with retinoblastoma are commonly misdiagnosed before presentation. Germline predisposition to retinoblastoma was more common than anticipated for patients with late-onset unilateral disease. This may have important implications for treatment and prognosis. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.