Retinoblastoma is a rare cancer of the infant retina, which forms when both RB1 alleles mutate in a susceptible retinal cell, likely a cone photoreceptor precursor. Loss of the tumour suppressor functions of the retinoblastoma protein, pRB, leads to uncontrolled cell division and recurrent genomic changes during tumour progression. Although pRB is expressed in virtually all tissues, cone precursors have biochemical and molecular features that may sensitize to RB1 loss to enable tumourigenesis. Retinoblastoma is diagnosed in ~8,000 children each year worldwide. Patient survival is >95% in high-income countries, but <30% globally. However, outcomes are improving through increasing awareness for earlier diagnosis, new guidelines and sharing of expertise. Intra-arterial and intravitreal chemotherapy have emerged as promising methods to salvage eyes. Ongoing international collaborations will replace the multiple different classifications of eye involvement with standardized definitions to consistently assess eligibility, efficacy and safety of treatment options. Life-long follow-up is warranted since survivors of heritable retinoblastoma are at risk for developing second cancers. Defining the molecular consequences of RB1 loss in diverse tissues may open new avenues for treatment and prevention of retinoblastoma as well as second cancers in patients with germline RB1 mutations.
This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
This is a retrospective investigation of patients with Retinoblastoma (RB) conducted from 2013 to 2016 at the Quanzhou Maternal and Child Health Hospital (China). Demographic and clinical characteristics, treatment outcomes, and risk factors were studied.In total, 436 patients were included in the study. Most of the findings obtained in this study are consistent with other previous reports. The male: female ratio was 1.41:1, and the unilateral: bilateral ratio was 1.51:1. Leukocoria was the most common presenting sign (79.44%), followed by strabismus (12.38%). While, the overall rates of enucleation (15.82%) and mortality (0.92%) were markedly lower than in other reports of RB in Chinese, and most of the patients received conservative therapy. There were signficant differences (p < 0.001) in the age of at first sign and diagnosis, and treatment modalities between patients with bilateral and unilateral RB. The treatment modalities did not show a specific trend over the 3-year study period. Our results suggest that an incorrect initial diagnosis and long lag time may be risk factors for ineffective treatment and a poor prognosis in patients with RB.This was a comprehensive retrospective investigation in which the sample size exceeded most previous retrospective investigations of RB. Our study confirmed that early detection, accurate diagnosis, and active intervention are conducive to control of retention of patients’ vision. Fundus examinations, education regarding the early signs of RB, and optimization of the therapeutic strategy of RB may play important roles in ocular health.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.