Comprehensive Analysis of Clinical Phenotype and Genetic Characteristics in Chinese Children with Retinoblastoma Caused by RB1 Gene Variant

Abstract

Objective: To summarize the clinical phenotype and genetic characteristics of 15 children with RB1 gene variant in Chinese population. Methods: Case series study, Retrospective analysis. From January 1, 2022 to March 31, 2024, clinical data and genetic testing results of 15 children with retinoblastoma caused by RB1 gene mutation admitted to Xiamen Hospital of Fudan University Affiliated Pediatrics Hospital.Retrieve the PubMed database using keywords such as "China", "Retinoplastoma", and "RB1 genetic mutations", and collect English literature from the establishment of the database until March 2024.To describe and summarize the main clinical manifestations and genotype characteristics of children with retinoblastoma caused by RB1 gene variant. Results: In this study, 15 children with 25 eyes, 8 males and 7 females, were diagnosed at 7 to 36 months, mean 16.00 ± 8.61 months; 10 patients affected both eyes and 5 single eyes. In the main complaint, 2 cases found no vision on physical examination, and 13 cases had white pupil. None of the 15 cases had a family genetic history.Whole-exon sequencing analysis found that 14 of 15 children were heterozygous for RB1 variant, 1 was chimeric variant, and 5 cases were not reported in the literature(c.608-1G>A, c.1818T>A, c.962dupA, c.2086A>T, c.574A>T. All 15 children were treated with eye preservation, including superselected arterial interventional chemotherapy, freezing, photocoagulation, systemic chemotherapy, eye picking, etc. The follow-up time was about 12-132 months, with an average of 39.20 ± 24.07 months, all with normal living conditions. Conclusions: Genetic testing is still an effective method to confirm RB1 gene variation. The supplementary RB1 gene variation spectrum of Chinese people can provide a basis for the early diagnosis and treatment and genetic counseling of children.