Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.

IF 1 4区 医学 Q4 GENETICS & HEREDITY
Ria Ratna, Akhil Varshney, Shailja Tibrewal, Aman Verma, Atanu Majumdar, Sima Das
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Abstract

Retinoblastoma is a pediatric ocular malignancy caused by biallelic inactivation of the RB1 gene, with genetic testing crucial for determining heritability. This retrospective observational study analyzed the genotypic and phenotypic profiles of 200 RB patients from North India who underwent genetic testing at a tertiary eye hospital between January 2022 and April 2024. Targeted RB1 gene analysis was performed using next-generation sequencing on blood samples, with methylation specific-multiplex ligation-dependent probe amplification detecting large deletions or duplications. Phenotypic features, including age of onset, laterality, disease severity, metastasis, and recurrence, were assessed. Among 200 patients, 113 had unilateral RB, 85 bilateral, and two trilateral, with mean onset ages of 33 months for unilateral and 14 months for bilateral cases. Intraocular tumors were present in 84%, extraocular extension in 16%, and metastasis in 16% of cases. Pathogenic RB1 variations were identified in 48% of patients, predominantly in bilateral cases (77.08%). A trend toward mutation clustering in exons 14-21 was observed in 57% of patients. While bilateral disease showed a statistically significant correlation with genotype for non-sense variations (p = 0.05); no other clinical features were linked to specific mutations. This study highlights unique regional genotypic patterns and emphasizes the potential for cost-effective testing strategies in resource-limited settings.

定位视网膜母细胞瘤中RB1基因突变:印度北部200例病例的研究
视网膜母细胞瘤是一种由RB1基因双等位基因失活引起的儿童眼部恶性肿瘤,基因检测对于确定遗传性至关重要。这项回顾性观察性研究分析了2022年1月至2024年4月期间在印度北部一家三级眼科医院接受基因检测的200名RB患者的基因型和表型特征。使用新一代测序技术对血液样本进行靶向RB1基因分析,使用甲基化特异性多重连接依赖探针扩增检测大缺失或重复。评估表型特征,包括发病年龄、侧边性、疾病严重程度、转移和复发。200例患者中,单侧RB 113例,双侧RB 85例,三边RB 2例,单侧RB平均发病年龄33个月,双侧RB平均发病年龄14个月。84%的病例存在眼内肿瘤,16%的病例存在眼外肿瘤,16%的病例存在转移。在48%的患者中发现致病性RB1变异,主要是双侧病例(77.08%)。在57%的患者中观察到外显子14-21突变聚集的趋势。双侧病变与基因型无意义变异的相关性有统计学意义(p = 0.05);没有其他临床特征与特定突变有关。这项研究强调了独特的区域基因型模式,并强调了在资源有限的情况下具有成本效益的检测策略的潜力。
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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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