Abstract
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.
Highlights
Background & SummaryNeurofibromatosis type 1 (NF1) is a common neuro-genetic condition caused by mutations in the neurofibromatosis type 1 (NF1) gene
Neurofibromatosis type 1 (NF1) is a common neuro-genetic condition caused by mutations in the NF1 gene
It is characterized by a predisposition to the development of nerve sheath tumors, including cutaneous neurofibromas, plexiform neurofibromas, and malignant peripheral nerve sheath tumors (MPNST)
Summary
Neurofibromatosis type 1 (NF1) is a common neuro-genetic condition caused by mutations in the NF1 gene. Progress is being made in the development and utilization of animal models and cell culture models[5], the limited availability of primary patient tissue remains unaddressed To address this gap, we established a local biospecimen repository for the purpose of (1) banking blood fractions and tumor tissue from patients with NF1 undergoing surgical resection of cNF, pNF and/or MPNST at Johns Hopkins Hospital; (2) generating xenograft and cell line models to propagate primary human tissue and cells (3) creating the required infrastructure that supports the sharing of data and tissue resources with the scientific community. We sequenced DNA of patient blood cells to include non-tumor (control) genomic data to facilitate downstream analysis These data are a valuable resource for the NF research community that complements previous NF tumor characterization efforts[8,9]. All data are available to qualified researchers via the NF Data Portal to encourage biological exploration and identification of drug targets in NF1
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