Athavale Vrushali, Khetan Vikas
Department of Vitreoretina, Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India.
Taiwan J Ophthalmol. 2018 Oct-Dec;8(4):196-204. doi: 10.4103/tjo.tjo_37_18.
Retinoblastoma, the most common primary intraocular malignancy of the young, is a prototype hereditary cancer. Due to its fairly predictable Mendelian inheritance, easily examinable tumors, and early age of presentation, RB has served as the most extensively studied model for genetics in cancer. The genetic strides in RB have progressed at an exponential rate since the 1970s. The highly morbid, reasonably curable and distinctly predictable inheritance pattern of RB; not to mention its propensity to affect our young, forms the basis of aggressively encouraging genetic diagnosis in all patients of RB. In this article, we present the basic and clinically relevant concepts of the genetics retinoblastoma.
视网膜母细胞瘤是儿童最常见的原发性眼内恶性肿瘤，是一种典型的遗传性癌症。由于其具有相当可预测的孟德尔遗传方式、易于检查的肿瘤以及发病年龄较早，视网膜母细胞瘤一直是癌症遗传学领域研究最为广泛的模型。自20世纪70年代以来，视网膜母细胞瘤的遗传学研究取得了指数级的进展。视网膜母细胞瘤具有高发病率、可合理治愈且明显可预测的遗传模式；更不用说它易于影响儿童，这些因素构成了积极鼓励对所有视网膜母细胞瘤患者进行基因诊断的基础。在本文中，我们介绍视网膜母细胞瘤遗传学的基本概念及其临床相关性。
