本综述介绍了视网膜母细胞瘤（RB）的分子生物学知识。视网膜母细胞瘤是一种遗传性和散发性形式的眼内肿瘤。全球每年有8,000例在发育中的视网膜中发现这种眼部恶性肿瘤。与视网膜母细胞瘤相关的主要基因是RB1，该基因携带着各种病理变异。肿瘤发生始于导致RB1双等位基因失活，从而阻止功能性pRB蛋白的产生的突变。视网膜母细胞瘤的穿透率因突变类型而异。然而，在少部分肿瘤中可能需要其他基因的参与，例如MYCN，BCOR和CREBBP。此外，表观遗传学变化也对视网膜母细胞瘤的进展起到作用。除了在细胞周期中的作用外，pRB还扮演着许多额外的角色，包括调节核小体结构、参与细胞凋亡、DNA复制、细胞衰老、分化、DNA修复和血管生成。值得注意的是，pRB在染色质重塑中起着重要的调节作用。近年来，高通量技术在可靠的生物标志物鉴定和患者管理改进中变得至关重要。尽管视网膜母细胞瘤治疗取得了显著进展，尤其是在高收入国家，但我们对视网膜母细胞瘤及其特定遗传学的理解仍需要进一步澄清，以便预测该疾病的进程并改善治疗。其中一种方法是通过从眼前段获得的肿瘤自由DNA在诊断和预后中的应用。© 2023. BioMed Central Ltd., part of Springer Nature.

This review presents current knowledge on the molecular biology of retinoblastoma (RB). Retinoblastoma is an intraocular tumor with hereditary and sporadic forms. 8,000 new cases of this ocular malignancy of the developing retina are diagnosed each year worldwide. The major gene responsible for retinoblastoma is RB1, and it harbors a large spectrum of pathogenic variants. Tumorigenesis begins with mutations that cause RB1 biallelic inactivation preventing the production of functional pRB proteins. Depending on the type of mutation the penetrance of RB is different. However, in small percent of tumors additional genes may be required, such as MYCN, BCOR and CREBBP. Additionally, epigenetic changes contribute to the progression of retinoblastoma as well. Besides its role in the cell cycle, pRB plays many additional roles, it regulates the nucleosome structure, participates in apoptosis, DNA replication, cellular senescence, differentiation, DNA repair and angiogenesis. Notably, pRB has an important role as a modulator of chromatin remodeling. In recent years high-throughput techniques are becoming essential for credible biomarker identification and patient management improvement. In spite of remarkable advances in retinoblastoma therapy, primarily in high-income countries, our understanding of retinoblastoma and its specific genetics still needs further clarification in order to predict the course of this disease and improve therapy. One such approach is the tumor free DNA that can be obtained from the anterior segment of the eye and be useful in diagnostics and prognostics.© 2023. BioMed Central Ltd., part of Springer Nature.