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Retinoblastoma: emerging concepts in genetics, global disease burden, chemotherapy outcomes, and psychological impact

2022; Springer Nature; Volume: 37; Issue: 5 Linguagem: Inglês

10.1038/s41433-022-01980-0

1476-5454

Carol L. Shields, Zeynep Baş, Andrea Laiton, Ana Maria Velasco Silva, Ahmed Sheikh, Sara E. Lally, Jerry A. Shields,

Nonmelanoma Skin Cancer Studies

In this review we discuss several recent concepts regarding retinoblastoma control and its impact. In a cohort of 482 patients with solitary unilateral retinoblastoma revealed germline mutation in 16% and the likelihood of germline retinoblastoma was greater for younger children (≤1 year versus (vs.) >1 year at presentation) with odds ratio (OR) 2.96 (p = 0.001), and greatest for the youngest infants (≤3 months vs. >3-12 months) (OR 5.52) (p = 0.002). Retinocytoma/retinoma, a benign variant of retinoblastoma, was studied in 78 tumours and demonstrated transformation into retinoblastoma in 9.2% by 5 years and 15.3% by 10 years and 20 years. An international global study on retinoblastoma over 1.5 years revealed 4351 new patients and 85% from low- and middle-income countries, notably with older age at detection and greater risk for metastasis. Management of retinoblastoma in 964 eyes using intravenous chemotherapy showed 20-year globe salvage at 96% in group A, 90% in group B, 90% in group C, 68% in group D, and 32% in group E eyes. The 5-year globe salvage with intra-arterial chemotherapy for 160 eyes (655 infusions) with retinoblastoma showed success in 100% for group B, 80% for group C, 78% for group D, and 55% for group E. The psychological impact of retinoblastoma on the parents revealed depression (73%), anxiety (64%), and/or stress (100%), and on the patient revealed deficits in quality of life issues. Retinoblastoma is a challenging disease and chemotherapy provides reliable tumour control and globe salvage. Continuing efforts to improve quality of life issues is important.摘要: 本综述讨论了视网膜母细胞瘤控制及其影响的几个最新概念。在一组拥有482例独立性单侧视网膜母细胞瘤患者的队列中, 16%的患者发现有胚系突变, 其中年龄较小的孩子患有遗传性视网膜母细胞瘤的可能性更大 (≤1岁 vs. å 1岁, OR = 2.96, p = 0.001), 年龄最小的婴儿可能性最大 (≤3个月vs.å 3-12个月, OR = 5.52, p = 0.002) 。对78例视网膜母细胞瘤的良性变异型视网膜细胞瘤/视网膜瘤进行了研究, 发现5年内有9.2%的患者转化为视网膜母细胞瘤, 10年和20年里有15.3%的患者转化为视网膜母细胞瘤。一项为期1.5年的全球研究显示: 在4351位新确诊的视网膜母细胞瘤的病人中, 85%来自中等和低等收入的国家, 尤其是确诊年龄大和转移风险高的病人。采用静脉化疗治疗964只视网膜母细胞瘤患眼的研究显示: 20年后眼球保留率A组为96%, B组为90%, C组为90%, D组为68%, E组为32%。对160只视网膜母细胞瘤患眼 (655次输液) 进行动脉内化疗, 其5年眼球保留率显示: B组成功率为100%, C组为80%, D组为78%, E组为55%。视网膜母细胞瘤对患者父母的心理影响表现为抑郁 (73%) 、焦虑 (64%) 和/或压力 (100%), 患者则存在生活质量低下的问题。视网膜母细胞瘤是一种具有挑战性的疾病, 化疗对于肿瘤的控制和眼球的保留来说是可靠的治疗方法。此外, 继续致力于患者生活质量的提高是十分必要的。.