Abstract

  Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder induced by a mutation in the NF1 tumor suppressor gene resulting in devastating physical and emotional repercussions, potentially life threatening. The recognized therapeutic options for neurofibromas are surgery or radiotherapy; however, when these options have been exhausted, pharmacologic agents interfering specifically with the mTOR pathway can be utilized. Everolimus is an oral inhibitor of mTOR complex 1 (mTORC1) with an intrinsic anti-tumor effect recognized in various cancer subtypes. The FDA and Health Canada have approved everolimus for the treatment of advanced renal cell carcinoma, neuroendocrine pancreatic tumors and subependymal giant cell tumors (SEGA) associated with tuberous sclerosis. However, there is limited clinical data reporting the efficacy of everolimus in the treatment of neurofibromas. The manuscript presents the case of a 60-year-old male diagnosed with progressive cervical spine neurofibroma refractory to standard surgical and radiation treatment. Everolimus was administered due to the imminent risk of tetraplegia. This decision acted in the patient’s favor. We faced the dilemma of observing the patient, progressing through his natural evolution, currently considered has the good practice and the standard of care, despite the risk of a potentially irreversible unfortunate condition. This manuscript discusses the situation we will face in a near future, when several therapeutic molecules will emerge from clinical trials and we will only rely on our judgment to determine the best clinical practice.

Keywords: Neurofibromatosis Type1; Quadriplegia; Mtor Pathway; Everolimus; Neurofibroma; Spinal Stenosis; Peripheral Nerve Sheath Tumor

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Citation

Citation: Maurice C., et al. “Everolimus Efficacy in the Treatment of Neurofibromatosis Type 1". Relationship Between Both Values”.Acta Scientific Neurology 3.2 (2020): 15-17.

Copyright

Copyright: © 2020 Maurice C., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.