[综述] 视网膜母细胞瘤
完整摘要 · 中文译文
视网膜母细胞瘤是儿童期最常见的原发性眼内恶性肿瘤，构成了重大的全球健康公平性问题，尽管它是一种在很大程度上可治愈的癌症，却体现了全球疾病负担和结局方面的深刻差异。视网膜母细胞瘤被认为起源于发育中视网膜的视锥光感受器前体细胞，主要由RB1抑癌基因的双等位基因失活驱动。不到2%的病例无可检测的RB1致病性变异；这些病例中约有一半反而表现为MYCN癌基因的高水平扩增。诊断和监测目前依赖于临床检查和多模态成像。新兴的分子诊断方法，如前房水液体活检，有望实现微创的肿瘤表征和实时疾病监测。治疗已转向保眼策略，动脉内、玻璃体内和前房内化疗显示出疗效和安全性。视网膜母细胞瘤的全球负担和死亡率在社会人口指数低的地区仍然最高，凸显了持续开展跨学科、以公平为重点的努力以确保全球及时诊断和可及的高质量照护的必要性。本研讨会综述了视网膜母细胞瘤在生物学、诊断、治疗、生存者管理以及减少不平等的全球努力方面的进展。
完整摘要 · 英文原文
Retinoblastoma, the most common primary intraocular malignancy of childhood, represents a substantial global health equity concern, exemplifying profound disparities in global burden and outcome despite being a largely curable cancer. Retinoblastoma is thought to arise from cone photoreceptor precursor cells of the developing retina, mainly driven by biallelic inactivation of the RB1 tumour suppressor gene. Fewer than 2% of cases have no detectable RB1 pathogenic variant; approximately half of these cases instead show high-level amplification of the MYCN oncogene. Diagnosis and monitoring currently rely on clinical examination and multimodal imaging. Emerging molecular diagnostic approaches such as aqueous humour liquid biopsy hold promise for minimally invasive tumour characterisation and real-time disease monitoring. Management has shifted towards eye-preserving strategies, with intra-arterial, intravitreal, and intracameral chemotherapy showing efficacy and safety. The global burden and mortality of retinoblastoma remains highest in regions with a low sociodemographic index, highlighting the need for continued interdisciplinary, equity-focused efforts to ensure timely diagnosis and accessible, high-quality care worldwide. This Seminar reviews the advances in retinoblastoma biology, diagnosis, treatment, survivorship, and global efforts to reduce inequities.