Childhood Cancer Data Initiative (CCDI): Molecular Characterization across Pediatric Brain Tumors and Other Solid and Hematologic Malignancies for Research, Diagnostic, and Precision Medicine

This study contains tumor and germline WGS, RNA-Seq, Clinical Panel Sequencing, and other omics and molecular data for patients with pediatric brain tumors and other solid and hematologic malignancies. This data has been collected from multiple organizations including the multi-institute Children's Brain Tumor Network (CBTN), the Pacific Pediatric Neuro-Oncology Consortium (PNOC), and the Children's Hospital of Philadelphia Division for Genomic Diagnostics (CHOP DGD). In addition to being available pre-publication and without embargo via dbGaP and the NCI Cancer Research Data Commons, this data is made available via Cavatica, PedcBioPortal and the Kids First Data Resource Portal. Collectively, this availability strives to accelerate the research process and enable members of the scientific and patient communities to partner and make discoveries faster than ever before.In 2019, the CBTN launched the Pediatric Brain Tumor Atlas, which now comprises the largest collection of childhood brain tumor data in the world. This resource is helping accelerate not only brain tumor research, but is also empowering discovery for other rare childhood conditions. Brain tumors are the most common form of cancer in children aged 0-19 in the United States, and are the largest cause of cancer-related deaths. The estimated number of new cases in 2019 is nearly 3,800, and thus brain tumors are a rare disease. Despite their relative rarity, the years of potential life lost due to brain tumors in 2009 was estimated at 47,631 years for children and adolescents aged 0-19 in the United States; this is a disproportionate amount of life lost compared to adult cancers and represents an unrecognized societal threat. There is an urgent need to improve therapies for these children. This sequencing cohort defines the largest, clinically annotated pediatric brain tumor cohort study to date and seeks to define the intersection of germline and somatic underpinnings of pediatric brain tumors across a shared developmental context of cancer and structural birth defects.]]>
Pediatric and AYA patients diagnosed with a central nervous system tumor, solid tumor, or hematologic malignancy.]]>
The initial bolus of data was previously released under the “Pediatric Brain Tumor Atlas” with consortium-based access in 2019 and focused primarily on CNS tumors. This study both widens the diagnosis criteria and adds in more subjects with CNS tumors.]]>

本研究涵盖儿童脑肿瘤及其他实体瘤、血液系统恶性肿瘤患者的肿瘤与生殖系全基因组测序（Whole Genome Sequencing, WGS）、RNA测序（RNA-Seq）、临床基因面板测序（Clinical Panel Sequencing）及其他组学与分子数据。研究数据采集自多个机构，包括多机构儿童脑肿瘤网络（Children's Brain Tumor Network, CBTN）、太平洋儿童神经肿瘤学联盟（Pacific Pediatric Neuro-Oncology Consortium, PNOC）以及费城儿童医院基因组诊断科（Children's Hospital of Philadelphia Division for Genomic Diagnostics, CHOP DGD）。本研究数据可通过基因型与表型数据库（Database of Genotypes and Phenotypes, dbGaP）、美国国家癌症研究所癌症研究数据公共库（NCI Cancer Research Data Commons）提前发布且无出版禁运限制，同时还可通过Cavatica、儿科癌症生物门户（PedcBioPortal）以及儿童第一数据资源门户（Kids First Data Resource Portal）获取。综上，本次数据开放旨在加速科研进程，助力科学界与患者群体开展合作，实现前所未有的快速科研突破。2019年，儿童脑肿瘤网络（CBTN）推出了儿童脑肿瘤图谱（Pediatric Brain Tumor Atlas），目前该图谱已成为全球规模最大的儿童脑肿瘤数据集。该资源不仅推动脑肿瘤研究加速进展，同时也为其他罕见儿童疾病的研究发现提供赋能。在美国，脑肿瘤是0至19岁儿童群体中最常见的癌症类型，同时也是癌症相关死亡的首要诱因。2019年预估新增病例近3800例，因此脑肿瘤属于罕见病范畴。尽管相对罕见，但2009年美国0至19岁儿童与青少年因脑肿瘤损失的潜在寿命预估达47631人年；相较于成人癌症，这一生命损失占比极不相称，也凸显出一个未被充分认知的社会公共健康威胁。目前亟需改善这类儿童患者的治疗方案。本次测序队列是目前规模最大的临床注释儿童脑肿瘤队列研究，旨在明确在癌症与结构性出生缺陷共有的发育背景下，儿童脑肿瘤的生殖系与体细胞遗传基础之间的关联。本研究的研究对象为确诊中枢神经系统（Central Nervous System, CNS）肿瘤、实体瘤或血液系统恶性肿瘤的儿童及青少年与年轻成人（Adolescent and Young Adult, AYA）患者。首批数据已于2019年以“儿童脑肿瘤图谱”为名发布，当时采用联盟式访问权限，且研究对象主要聚焦中枢神经系统肿瘤。本次研究不仅拓宽了诊断标准，还新增了更多中枢神经系统肿瘤患者样本。