Purpose

To study the impact of a Retinoblastoma (Rb) screening program in the absence of genetic testing on the management and outcome of high-risk children.

Methods

This is a retrospective, clinical case series of 76 children from families involved in a Rb screening program as they had higher than normal risk as calculated by the conventional ways without genetic testing. Data included calculated risk, method of diagnosis, demographics, tumor features, treatment modalities, and management outcome.

Results

Out of the 76 children screened, 46 children were diagnosed with Rb (12 by screening and 34 had signs of Rb), the other 30 were free of disease. Patients diagnosed by screening were younger (mean; 2.4 months vs 15.8 months for the group with signs of Rb), had significantly earlier tumor stage at diagnosis (p = .0001), higher eye salvage rate (p = .0001), less need for systemic chemotherapy (p = .022), and better visual outcome (p = .0017) than the other group. None of the eyes were group D or E, enucleated or irradiated. Six (50%) patients were cured without chemotherapy, and the visual acuity was 0.5 or better in 55% of eyes. Of interest, 71% of tumors were diagnosed by the age of 6 months, 90% by the age of 1 year, and no new tumor appeared after the age of 2 years.

Conclusion

Even in the absence of genetic testing, screening for children with high risk for Rb is effective in enhancing early diagnosis, improving visual outcome, and increasing eye salvage rate with limited exposure to treatment burden.

中文翻译：

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视网膜母细胞瘤的程序化筛查可提高高危儿童的早期诊断并改善管理结果。

目的

在没有基因检测的情况下研究视网膜母细胞瘤（Rb）筛查计划对高危儿童的治疗和结局的影响。

方法

这是一项回顾性临床病例系列研究，纳入了76名来自Rb筛查计划的家庭患儿，因为他们的患病风险高于通过常规方法进行的未经基因检测的正常风险。数据包括计算出的风险，诊断方法，人口统计学，肿瘤特征，治疗方式和治疗结局。

结果

在被筛查的76名儿童中，有46名被诊断出患有Rb（通过筛查12名，有Rb征象），其余30名没有疾病。经筛查确诊的患者较年轻（平均； 2.4个月，Rb征象组为15.8个月），诊断时肿瘤分期明显较早（p = .0001），眼睛抢救率较高（p = .0001），需要较少用于全身化疗（p = .022）和更好的视觉效果（p= .0017）。D或E组的眼睛没有摘核或照射过。六名（50％）患者无需化疗即可治愈，并且55％的眼睛的视力为0.5或更高。有趣的是，到6个月大时诊断出71％的肿瘤，到1岁大时诊断出90％的肿瘤，在2岁后没有新肿瘤出现。

结论

即使没有基因检测，筛查具有高Rb风险的儿童也可以有效地提高早期诊断，改善视力结局并在有限的治疗负担下提高眼睛抢救率。