Clinical features and survival of Chinese children with trilateral retinoblastoma during 2006-2019: A retrospective multicenter study.

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To summarize the clinical features and survival of Chinese patients with trilateral retinoblastoma (TRb), which may help guide early diagnosis and more effective treatments.Retrospective case series.Clinical records of patients with TRb were reviewed to identify clinical characteristics and outcomes. The TRb was diagnosed mainly based on imaging findings of an enlarged solid pineal or sellar mass. Mutation screening was performed using peripheral blood leucocyte DNA from 3 patients.Fourteen patients with TRb were identified among 3,789 patients with retinoblastoma (0.4%). Thirteen patients had bilateral retinoblastoma and 1 patient had unilateral disease. The follow-up results revealed that 2 patients survived, 3 patients were lost to follow-up, and 9 patients died. The mean overall survival was 9.8 months (95% CI: 2.3-17.2) and the 2-year survival rate was 18.8% (95% CI: 2.9-45.1) on the Kaplan-Meier estimates. Cox regression multivariate analysis showed metastasis at TRb diagnosis was an independent variable of overall survival (HR 15.8, 95% CI: 0.24-5.29; P = .032). Three germline mutations in the RB1 gene were detected via next-generation sequencing.Trilateral retinoblastoma is a rare intracranial midline neuroblastic disease. Increased awareness of this disease may guide early detection, which was associated with improved outcomes.

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