41例有家族史视网膜母细胞瘤患儿临床特点及家系谱总结  

Clinical features and pedigree of 41 children with family history of retinoblastoma

作　　者：王一卓[1] 钱冰涛 黄东生[1] 张谊[1] 史季桐[3] 马建民 周燕[1] 顾华丽[1] 李楠[1] 高亚楠[1] WANG Yizhuo;QIAN Bingtao;HUANG Dongsheng;ZHANG Yi;SHI Jitong;MA Jianmin;ZHOU Yan;GU Huali;LI Nan;GAO Yanan(Department of Pediatrics,Beijing Tongren Hospital,Capital Medical University,Beijing 100176,China;Department of Pediatrics,Aerospace Central Hospital,Beijing 100049,China;Department of ophthalmology,Beijing Tongren Hospital,Capital Medical University,Beijing 100176,China)

机构地区：[1]首都医科大学附属北京同仁医院儿科,北京100176 [2]航天中心医院儿科,北京100049 [3]首都医科大学附属北京同仁医院眼科,北京100176

出　　处：《中国小儿血液与肿瘤杂志》2018年第5期232-237,250,共7页Journal of China Pediatric Blood and Cancer

摘　　要：目的总结分析有家族史的视网膜母细胞瘤(RB)患儿临床发病特点,收集RB患儿家系谱情况,了解RB基因突变携带情况,进行遗传咨询探讨。方法选取我院儿科2006年11月-2013年5月收治的1247例RB患儿中有明确RB家族史的41例患儿作为研究对象,无家族史1206例RB患儿作为对照组。对两组患儿的发病年龄、临床表现、实验室检查、治疗效果、家系谱遗传情况进行回顾性总结。统计分析两组RB患儿双眼发病情况,根据RB遗传模式分为3组:直接遗传、间接遗传、隐形嵌合体,分析研究组RB患儿的家系谱特点。结果 41例研究组RB患儿中单眼8例(19.5%),双眼33例(80. 5%);中位发病年龄10.2个月;双眼发病率为80.5%。1206例无家族史RB患儿双眼发病率为31. 5%(318例)。具有明确家族史RB患儿双眼发病率高于无家族史RB患儿(χ~2=42. 746,P=0.00)。41例患儿中3例死亡,总体生存率为92.6%。RB患儿家系谱:直接遗传29例,间接遗传4例,隐形嵌合体8例。结论有家族史RB患儿双眼发病率较无家族史患儿高;单眼发病、散发病例和家系谱中未发病的亲属都可能携带RB基因突变,对RB基因突变的筛查,有助于判断其子代患病风险性。Objective To analyze the clinical characteristics of retinoblastoma with family history, by collecting the pedigree infommtion and finding out the mutation of RB gene, and carrying out genetic counseling for these RB patients. Methods We selected 41 RB cases who having family history from 1247 RB patients from November 2006 to May 2013 as researching object. We retrospectively collected clinical data, including age, clinical manifestation, laboratory examination, tratment effect and pedigree genealogy , and so on, for statisticing the incidence of bilateral RB with or without family history in paediatrics. According to retinoblastoma genetic model, the clinical group had three group direct genetic, indirect genetic, and stealth chimera for analysing the pedigree characteristics. Results In 41 RB patients, 8 cases （19.5%） were of unilateral RB, while 33 cases （80.5%） were of bilateral RB. The median age was 10.2 months. The incidence rate of bilateral RB was 80.5% （33 cases） in 41 RB patients, and it was 31.5% （318 cases） in 1206 RB case without having family history. （X2 = 42. 746, P = 0. 000）. Of the 41 RB patients who received enucleation, 25 died （overall survival： 95.3% ）. The overall survival rate was 92.6% （38/41）. 3 patients wele dead. RB pedigrees analysis ： 4 patients of direct inheritance： 29 patients of indirect inheritance, and 8 patients of invisible chimeric inheritance. Conclusions The high incidence of bilateral RB with having family history compare without having it. Those patients may be have carrying the mutation of RB gene for unilateral or none having family history cases. Therefore, we should screen the RB gene for RB patients as regular test for assessing the risk of offspring inheritance.

关 键 词：视网膜母细胞瘤 家系 遗传 

分 类 号：R739.7[医药卫生—肿瘤]