儿童视网膜母细胞瘤

Retinoblastoma in children

视网膜母细胞瘤(RB)是儿童最常见的眼内恶性肿瘤,占儿童恶性肿瘤的3%左右。多以"白瞳症"首发,可沿视神经致脑脊液播散。RB1基因突变是最早被发现与RB发生有关的肿瘤抑制基因,常表现为点突变及RB1部分缺失。可单眼发病,也可双眼发病。RB采用介入治疗、眼内保守治疗、化疗、放疗等长期生存率已经达到95%以上,但随着认识的深入以及经济条件的改善,远处转移期RB及中枢神经系统播散的RB就诊率逐年增高。认识视网膜母细胞瘤的诊断、综合治疗及国内外研究进展对于提高RB患儿的保眼率及生存质量十分必要。

Retinoblastoma（RB）is the most common intraocular tumor in population,and represents 3% of pediatric cancers. The most common intimal sign of RB was ＂leucocoria＂. It develops in the retina as a primitive neuroectodermal tumor that affects development during gestation. It is initiated by mutation of the RB1 gene,which was the first described tumoursuppressor gene. It could be in one eye or both eyes. The treatment for RB included interventional treatment,intraocular conservation,chemotherapy and radiotherapy,and the long-term survival rate reached over 95%. However,with the deepening of understanding and improvement of economic conditions,the rate of visits for RB and spread of RB in the central nervous system has been increasing year by year. Understanding the diagnosis and comprehensive treatment of retinoblastoma and research progress at home and abroad are necessary to improving the eye-protection rate and quality of life in children with RB.