视网膜母细胞瘤的遗传学特征及临床筛查与治疗

Genetic characteristics and clinical screening and treatment of retinoblastoma

视网膜母细胞瘤(RB)是儿童最常见的眼内恶性肿瘤,多发于婴幼儿,可损害患儿视力、眼球,甚至危及生命。其发生和发展与基因组和表观基因组有很大关系,遗传性RB占所有病例的45%。RB的治疗和预后取决于疾病的初始阶段,当疾病被早期诊断和治疗时,存活率超过95%,当RB在晚期发生眼外播散时,存活率低于50%。因此RB的治疗重点是通过早期肿瘤的监测和预防挽救患儿生命,其次要目标是保存眼球,并最大水平地保留视力。对RB遗传学的研究有助于通过基因筛查、监测查找特异性靶点,对提高患儿的生存率、研究RB靶向治疗十分必要。

Retinoblastoma (RB) is the most common intraocular malignant tumor in children, which often occurs in infants and young children. It can damage the eyesight, eyeball and even life-threatening of children. The occurrence and development is closely related to the genome and epigenome. The treatment and prognosis of hereditary RB in all cases depends on the initial stage of the disease, and when the disease is diagnosed and treated early, the survival rate exceeds 95%. The survival rate of RB was less than 50% when extraocular dissemination occurred in late stage. Therefore, the treatment focus on RB is to save the lives of children through early tumor monitoring and prevention. The secondary goal is to preserve globe salvage and to preserve vision to the maximum extent possible. The research on RB genetics is helpful to find specific targets through gene screening, monitoring and search, which is very necessary to improve the survival rate of children and to research targeted therapy.