摘要
罕见肿瘤虽发病率低,但种类繁多,总数庞大,整体占全部恶性肿瘤20%以上。然而,样本稀缺、研究资源分散等现实情况直接制约了罕见肿瘤研究,精准诊断与靶向治疗更加依赖开放的高质量数据库支持。近年随着基因组技术发展,部分罕见肿瘤研究取得了一定进展,但数据壁垒为罕见肿瘤的精准医学发展带来严峻挑战。本文以儿童小脑髓母细胞瘤为例回顾了罕见肿瘤生物医学数据库建设现状,剖析数据壁垒对研究生态的影响,并提出未来高质量生物医学数据库构建应对策略。
Rare cancers,despite their low individual incidence,encompass a wide array of subtypes and collectively account for more than 20%of all malignancies.Progress in this field has been constrained by limited sample availability and fragmented research resources,making precision diagnosis and targeted therapy heavily reliant on high-quality,openly accessible databases.While recent advances in genomic technologies have facilitated progress in selecting rare cancer types,the persistence of data silos and insufficient data integration remains a critical barrier to the development of precision oncology.Taking pediatric medulloblastoma as the insight,we examine the current state of biomedical data infrastructure for rare cancers,assess the impact of data fragmentation on research productivity,and outline strategic recommendations for building robust,high-resolution databases to accelerate discovery and improve patient outcomes.
作者
刘海龙
马骋宇
姜涛
李艺影
陈瑞
田雨
Hailong Liu;Chengyu Ma;Tao Jiang;Yiying Li;Rui Chen;Yu Tian(Beijing Tiantan Hospital Capital Medical University,Beijing 100070,China;National Center for Neurological Disorders,Beijing 100070,China;Chinese Institute for Medical Research,Beijing 100069,China;School of Public Health Capital Medical University,Beijing 100069,China;Beijing Neurosurgical Institute,Beijing 100070,China;Beijing Engineering Research Center of Targeted Drugs and Cell Therapy for CNS Tumors,Beijing 102600,China)
出处
《中国科学基金》
北大核心
2025年第4期635-642,共8页
Bulletin of National Natural Science Foundation of China
基金
国家科技重大专项青年科学家项目(2022ZD0210100)
中国工程院科技战略咨询项目(2025-XBZD-10-01)
国家自然科学基金项目(82273343,82204127,82172608)
北京市杰出青年科学基金项目(24JQG011)的资助。
关键词
罕见肿瘤
肿瘤数据库
精准医学
人工智能
髓母细胞瘤
rare cancer
tumor database
precision medicine
artificial intelligence
medulloblastoma
