Pre-clinical Studies for NF2 Schwannomas

Mutations in the merlin tumor suppressor gene (NF2) cause the rare tumor disorder Neurofibromatosis Type 2 (NF2). Individuals with NF2 develop schwannomas as well as meningiomas and ependymomas throughout their lifetime. Bilateral vestibular schwannomas (VS) are diagnostic for NF2 and are typically not removed unless absolutely necessary. Resection of VS leaves patients deaf and often with facial paralysis and balance deficits. To date, there is no FDA approved drug therapy for this disease, thus there is a great need for pharmaceuticals to slow or prevent schwannoma growth that are safe for chronic use. The barriers to development of NF2 drug therapies have been the lack of relevant and high quality specimens, animal models, and identified drug targets. The research hypothesis is that studying the response of human tumor tissue to candidate drugs will be more impactful than studying mouse model cells. Therefore, access to the rare tumor tissue type (i.e. schwannomas, ependymomas, and meningiomas) made available through the Pediatric Brain Tumor Atlas is invaluable to this work. This translational research study has the promise of directly impacting ongoing clinical trials for NF2, therefore directly supporting the development of new diagnostics and therapies.