Genetics of Retinoblastoma - An Update.

IF 1.9 4区医学 Q2 OPHTHALMOLOGY

Seminars in Ophthalmology Pub Date : 2025-04-16 DOI:10.1080/08820538.2025.2492287

Adwaita Nag, Vikas Khetan

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引用次数: 0

Abstract

Purpose: The purpose of this review article is to provide an exhaustive overview of the genetic and epigenetic changes involved in retinoblastoma (RB) tumorigenesis along with their real-world applications.

Methods: We searched the Pubmed database using keywords: retinoblastoma, genetics, epigenetics, oncogenes, tumor suppressor genes and target genes.

Results: RB oncogenesis is triggered by biallelic RB1 gene mutation but progression involves additional genetic and epigenetic events. Commonly seen genetic mutations include nonsense, small insertions/deletions and splice mutations. Additional changes include copy number alterations, single nucleotide polymorphisms and epigenetic alterations (dysregulation of microRNAs, differential methylations). These pathways have led to the identification of several potential target genes that can play a role in future in precision therapy.

Conclusions: Genetic testing, counseling and risk stratification are integral to the management of RB. The latest genetic advancements herald the dawn of a new era with potential therapeutic approaches to RB and improved treatment outcomes.

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视网膜母细胞瘤的遗传学研究进展。

目的：本文综述了视网膜母细胞瘤（RB）发生过程中的遗传和表观遗传变化及其在现实世界中的应用。方法：检索Pubmed数据库，检索关键词：视网膜母细胞瘤、遗传学、表观遗传学、癌基因、抑癌基因、靶基因。结果：RB肿瘤发生由双等位基因RB1基因突变触发，但进展涉及额外的遗传和表观遗传事件。常见的基因突变包括无义突变、小插入/缺失和剪接突变。其他变化包括拷贝数改变、单核苷酸多态性和表观遗传改变（microrna失调、差异甲基化）。这些途径已经确定了几个潜在的靶基因，这些基因可以在未来的精确治疗中发挥作用。结论：基因检测、咨询和风险分层是RB治疗不可或缺的一部分。最新的遗传进展预示着RB潜在治疗方法和改善治疗结果的新时代的到来。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Seminars in Ophthalmology OPHTHALMOLOGY-

CiteScore

3.20

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Seminars in Ophthalmology offers current, clinically oriented reviews on the diagnosis and treatment of ophthalmic disorders. Each issue focuses on a single topic, with a primary emphasis on appropriate surgical techniques.