Sidney Kimmel Comprehensive Cancer Center and Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, USA.
Sage Bionetworks, Seattle, USA.
Sci Data. 2020 Jun 19;7(1):184. doi: 10.1038/s41597-020-0508-5.
Nerve sheath tumors occur as a heterogeneous group of neoplasms in patients with neurofibromatosis type 1 (NF1). The malignant form represents the most common cause of death in people with NF1, and even when benign, these tumors can result in significant disfigurement, neurologic dysfunction, and a range of profound symptoms. Lack of human tissue across the peripheral nerve tumors common in NF1 has been a major limitation in the development of new therapies. To address this unmet need, we have created an annotated collection of patient tumor samples, patient-derived cell lines, and patient-derived xenografts, and carried out high-throughput genomic and transcriptomic characterization to serve as a resource for further biologic and preclinical therapeutic studies. In this work, we release genomic and transcriptomic datasets comprised of 55 tumor samples derived from 23 individuals, complete with clinical annotation. All data are publicly available through the NF Data Portal and at http://synapse.org/jhubiobank.
神经鞘瘤是神经纤维瘤病 1 型(NF1)患者中一组异质性的肿瘤。恶性形式是 NF1 患者死亡的最常见原因,即使是良性肿瘤,也会导致严重的畸形、神经功能障碍和一系列严重的症状。缺乏 NF1 中常见的周围神经肿瘤的人体组织,一直是开发新疗法的主要限制。为了解决这一未满足的需求,我们创建了一个注释的患者肿瘤样本、患者来源的细胞系和患者来源的异种移植物的集合,并进行了高通量基因组和转录组特征分析,作为进一步生物学和临床前治疗研究的资源。在这项工作中,我们发布了由 23 个人的 55 个肿瘤样本组成的基因组和转录组数据集,包括临床注释。所有数据均可通过 NF 数据门户和 http://synapse.org/jhubiobank 公开获取。
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