罕见的儿童眼癌研究:来自儿童眼生物银行的见解。

Q3 Medicine
International Ophthalmology Clinics Pub Date : 2025-10-01 Epub Date: 2025-09-25 DOI:10.1097/IIO.0000000000000594
Frances Argento, Panagiotis N Toumasis, Kaitlin Jones, Joanna Ciezadlo, Kaitlyn Flegg, Timothy W Corson, Ashwin C Mallipatna, Helen Dimaras
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引用次数: 0

摘要

罕见的儿童眼癌(R-PECs)包括30多种影响不同眼部结构的良性和恶性肿瘤。尽管R-PECs具有潜在的严重发病率和死亡率,但由于其罕见性、临床异质性和高质量生物标本的有限可用性,许多R-PECs仍然知之甚少。视网膜母细胞瘤的历史例子说明了如何获得良好注释的肿瘤组织实现突破性的发现,包括RB1基因和mycn扩增的视网膜母细胞瘤的鉴定。然而,缺乏集中的高质量资源继续阻碍R-PECs的进展。生物银行通过在标准化协议和正式治理下系统地收集、存储和共享生物标本和数据,提供了一种解决方案。儿科生物库面临着独特的伦理和运营挑战,包括获得动态同意和保障参与者的自主权。然而,它们也提供了独特的机会,包括创建可再生模式(例如,)。类器官,细胞系)以及成像和多组学数据的整合。这篇综述强调了这些机遇和挑战,借鉴了儿童眼生物银行的见解。通过结构化的资源收集、管理和患者参与,儿童眼生物银行展示了生物银行如何改变R-PEC研究,并加速这一服务不足领域的发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rare Pediatric Eye Cancer Research: Insights From the Kids Eye Biobank.

Rare pediatric eye cancers (R-PECs) encompass over 30 benign and malignant neoplasms affecting various ocular structures. Despite their potential for severe morbidity and mortality, many R-PECs remain poorly understood due to their rarity, clinical heterogeneity, and the limited availability of high-quality biospecimens. The historic example of retinoblastoma illustrates how access to well-annotated tumor tissue enabled groundbreaking discoveries, including the identification of the RB1 gene and MYCN-amplified retinoblastoma. However, a lack of centralized, high-quality resources continues to hinder progress across the spectrum of R-PECs. Biobanking offers a solution by systematically collecting, storing, and sharing biospecimens and data under standardized protocols and formal governance. Pediatric biobanks face unique ethical and operational challenges, including obtaining dynamic consent and safeguarding participant autonomy. Yet, they also offer unique opportunities, including the creation of renewable models (eg,. organoids, cell lines) and the integration of imaging and multiomics data. This review highlights these opportunities and challenges, drawing on insights from the Kids Eye Biobank. Through structured resource collection, governance, and patient engagement, the Kids Eye Biobank demonstrates how biobanking can transform R-PEC research and accelerate discovery in this underserved area.

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来源期刊
International Ophthalmology Clinics
International Ophthalmology Clinics Medicine-Ophthalmology
CiteScore
1.40
自引率
0.00%
发文量
94
期刊介绍: International Ophthalmology Clinics is a valuable resource for any medical professional seeking to stay informed and up-to-date regarding developments in this dynamic specialty. Each issue of this quarterly publication presents a comprehensive review of a single topic in a new or changing area of ophthalmology. The timely, tightly focused review articles found in this publication give ophthalmologists the opportunity to benefit from the knowledge of leading experts in this rapidly changing field.
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