Related genes, pathogenesis, and lncRNA functions in retinoblastoma
10.3980/j.issn.1672-5123.2026.5.15
- VernacularTitle:视网膜母细胞瘤相关基因和发病机制及lncRNA功能的研究进展
- Author:
Qihang DIAO
1
;
Shuangxiu LI
1
;
Xinyan XU
1
;
Rongyu GAO
1
;
Mengjun FU
1
Author Information
1. The Second Clinical Medical College of Binzhou Medical University, Yantai 264100, Shandong Province, China
- Publication Type:Journal Article
- Keywords:
retinoblastoma;
related genes;
pathogenesis;
therapeutic approaches;
long non-coding RNA(lncRNA)
- From:
International Eye Science
2026;26(5):816-822
- CountryChina
- Language:Chinese
-
Abstract:
Retinoblastoma(RB)represents the most common primary intraocular malignant tumor in infants and young children, posing a severe threat to the visual acuity and life of affected patients. Clinically, it is categorized into hereditary and non-hereditary subtypes. Mounting evidence indicates that RB cells most likely originate from cone photoreceptor precursor cells, and the tumorigenesis is closely associated with the inactivation of the RB1 gene. Beyond RB1, a growing list of genes including MYCN, TP53 and PRMT1 have been implicated in the initiation and progression of RB. Concurrently, the dysregulation of multiple signaling pathways such as RB/E2F, WNT, and PI3K/AKT synergistically drives the survival, proliferation, invasion, and metastasis of RB tumor cells. The therapeutic paradigm for RB has undergone a dramatic shift from the conventional enucleation-dominated approach to personalized multimodal therapies that prioritize globe salvage and visual preservation, encompassing local therapies, chemotherapy and radiotherapy. Moreover, novel therapeutic modalities including targeted therapy, immunotherapy and gene therapy are currently under active preclinical and clinical investigation. In recent years, long non-coding RNAs(lncRNAs), as pivotal regulators of genetic expression, have attracted increasing attention for their critical roles in RB oncogenesis and progression. These molecules hold great promise to serve as novel diagnostic biomarkers and offer innovative insights and strategies for RB treatment. This review summarizes the latest research advances in the aforementioned aspects of retinoblastoma.
