Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells
Citations Over TimeTop 11% of 2018 papers
Abstract
Neurofibromatosis type I (NF1) is an autosomal dominant genetic condition characterized by peripheral nervous system tumors (PNSTs), including plexiform neurofibromas (pNFs) that cause nerve dysfunction, deformity, pain damage to adjacent structures, and can undergo malignant transformation. There are no effective therapies to prevent or treat pNFs. Drug discovery efforts are slowed by the 'benign' nature of the Schwann cells that are the progenitor cells of pNF. In this work we characterize a set of pNF-derived cell lines at the genomic level (via SNP Arrays, RNAseq, and Whole Exome- Sequencing), and carry out dose response-based quantitative high-throughput screening (qHTS) with a collection of 1,912 oncology-focused compounds in a 1536-well microplate cell proliferation assays. Through the characterization and screening of NF1-/-, NF1+/+ and NF1+/- Schwann cell lines, this resource introduces novel therapeutic avenues for the development for NF1 associated pNF as well as all solid tumors with NF1 somatic mutations. The integrated data sets are openly available for further analysis at http://www.synapse.org/pnfCellCulture.
Related Papers
- → Immortalization of human normal and NF1 neurofibroma Schwann cells(2016)108 cited
- → Single-stage total endoscopic resection of a plexiform neurofibroma of the maxillary sinus in a child with type 1 neurofibromatosis(2010)5 cited
- [Plexiform neurofibroma of the bladder associated with neurofibromatosis type 1: a case report].(2012)
- → The recurrent plexiform neurofibroma of the scalp in neurofibromatosis type 1: illustrative case(2021)1 cited
- → RETRACTED: A case report of a 4-year-old girl with neurofibromatosis type 1(2022)1 cited