Yun Jun, Li Yang, Xu Chang-Tai, Pan Bo-Rong
Department of General Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, Shaanxi Province, China.
Int J Ophthalmol. 2011;4(1):103-9. doi: 10.3980/j.issn.2222-3959.2011.01.24. Epub 2011 Feb 18.
Retinoblastoma (Rb) is the most common eye cancer in children and it can be inherited. Rb is quite rare and originators from the neural retina with a significant genetic component in etiology, which occurs in approximately 1 in every 20 0000 births. In children with the heritable genetic form of Rb, there is a mutation on chromosome 13, called the retinoblastoma 1 (Rb1) gene. Early diagnosis and intervention is critical to the successful treatment of the Rb. The Rb1 gene is the first cloned tumor suppressor gene. As a negative regulator of the cell cycle, Rb1 gene could maintain a balance between cell growth and development through binding to transcription factors and regulating the expression of genes involved in cell proliferation and differentiation. Thus, it is involved in cell cycle, cell senescence, growth arrest, apoptosis and differentiation. We summarized the recent advances on the epidemiology and Rb1 gene of Rb in this review.
视网膜母细胞瘤（Rb）是儿童中最常见的眼癌，且具有遗传性。Rb相当罕见，起源于神经视网膜，病因中有重要的遗传成分，大约每200000例出生中会出现1例。在患有遗传性Rb的儿童中，13号染色体上存在一种突变，称为视网膜母细胞瘤1（Rb1）基因。早期诊断和干预对于Rb的成功治疗至关重要。Rb1基因是第一个被克隆的肿瘤抑制基因。作为细胞周期的负调节因子，Rb1基因可通过与转录因子结合并调节参与细胞增殖和分化的基因表达，来维持细胞生长与发育之间的平衡。因此，它参与细胞周期、细胞衰老、生长停滞、凋亡和分化。在本综述中，我们总结了Rb在流行病学和Rb1基因方面的最新进展。
