Hanoi Medical University, Hanoi, Vietnam.
National Institute of Ophthalmology, Hanoi, Vietnam.
Mol Genet Genomic Med. 2023 Nov;11(11):e2244. doi: 10.1002/mgg3.2244. Epub 2023 Aug 7.
Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatment outcomes and patient management.
In this study, both somatic and germline mutations were detected in blood and tumour samples of 42 RB patients using direct sequencing and multiplex ligation-dependent probe amplification.
In total, 34 different mutations were found in 36 patients, including 1 SNP, 4 large deletions, 5 splicing sites, 1 missense, 7 frameshifts and 17 nonsense mutations. There were five novel mutations and one unreported which have not been found in large databases such as Leiden Open Variation Database (LOVD) and ClinVar.
A higher rate of RB patients carrying heterozygous germline mutation and highly prevalent with pathogenic truncated mutation, hence, early detection of RB is essential for vision salvation and genetic counselling.
视网膜母细胞瘤（RB）是一种常见于儿童的眼内恶性肿瘤，主要由 RB1 基因两个等位基因的失活突变引起。早期对 RB1 基因突变进行遗传筛查将极大地改善治疗结果和患者管理。
本研究通过直接测序和多重连接依赖性探针扩增法，在 42 名 RB 患者的血液和肿瘤样本中检测了体细胞和种系突变。
在 36 名患者中发现了 34 种不同的突变，包括 1 个 SNP、4 个大片段缺失、5 个剪接位点、1 个错义、7 个移码和 17 个无义突变。有 5 个新的突变和 1 个未在莱顿开放变异数据库（LOVD）和 ClinVar 等大型数据库中报道的突变尚未发现。
RB 患者携带杂合种系突变的比例较高，且致病性截断突变普遍存在，因此，早期发现 RB 对于挽救视力和遗传咨询至关重要。
