A clinically and genomically annotated nerve sheath tumor biospecimen repository

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.

Publication types

  • Dataset
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line, Tumor
  • Genomics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Nerve Sheath Neoplasms / genetics*
  • Nerve Sheath Neoplasms / pathology*
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / pathology*
  • Transcriptome