Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients
Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients
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DOI：
10.1016/j.exer.2021.108456
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发表时间：
2021-02-04
影响因子：
3.4
通讯作者：
Jia, Renbing
中科院分区：
文献类型：
--
作者：
Chai, Peiwei;Luo, Yingxiu;Jia, Renbing
视网膜母细胞瘤（Rb）是最常见的原发性儿童眼内恶性肿瘤，也是儿童失明的主要原因之一。在中国，大多数肿瘤确诊时已属晚期，与发达国家相比，预后相对较差。在此，我们的目的是更新中国 Rb 患者的临床表现和 RB 转录辅阻遏物 1 (RB1) 突变谱。对 145 名无亲属关系的中国 Rb 患者的 184 只眼睛的医疗图表进行了审查。从患者及其父母的外周血中分离出基因组DNA。对RB1基因的整个编码区、启动子区和侧翼剪接位点进行突变分析。此外，还进行了多重连接依赖性探针扩增（MLPA）来检测总体畸变。 37.2% (54/145) 的 Rb 患者中观察到种系 RB1 突变。 RB1 突变患者的诊断年龄较早 (p = 0.019)，双侧病例的比例明显更高 (p =
Retinoblastoma (Rb) is the most common primary intraocular childhood malignancy and one of the main causes of blindness in children. In China, most tumors are diagnosed at an advanced stage and have relatively poor outcomes compared to developed countries. Here, we aimed to update the clinical manifestations and RB transcriptional corepressor 1 (RB1) mutation spectrum in Chinese Rb patients. Medical charts of 184 eyes in 145 Chinese Rb patients belonging to unrelated families were reviewed. Genomic DNA was isolated from peripheral blood of the patients and their parents. Mutation analysis of whole coding regions, promoter regions and flanking splice sites in the RB1 gene was performed. In addition, multiplex ligation-dependent probe amplification (MLPA) was done to detect gross aberrations. Germline RB1 mutations were observed in 37.2% (54/145) of Rb patients. RB1-mutated patients presented with earlier age of diagnosis (p = 0.019), with a significantly larger proportion of bilateral cases (p =