The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions
| Autor: | Paolo Curatolo, Rima Nabbout, Anna Jansen, Bernard A. Zonnenberg, Patricia Dill, José C Ferreira, Martha Feucht, Sergiusz Jóźwiak, J. Christopher Kingswood, Romina Moavero, Christoph Hertzberg, Marit Bjørnvold, Alfons Macaya, Katarzyna Kotulska |
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| Přispěvatelé: | Mental Health and Wellbeing research group, Neurogenetics |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Oncology congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Angiomyolipoma Pharmacology Astrocytoma 03 medical and health sciences Tuberous sclerosis 0302 clinical medicine pharmacological treatment Tuberous Sclerosis hemic and lymphatic diseases Internal medicine medicine Humans Pharmacology (medical) Genetic disorder neoplasms Protein Kinase Inhibitors PI3K/AKT/mTOR pathway Everolimus Epilepsy Subependymal giant cell astrocytoma business.industry TOR Serine-Threonine Kinases evidence based recommendations medicine.disease Kidney Neoplasms Settore MED/39 - Neuropsichiatria Infantile nervous system diseases 030104 developmental biology medicine.anatomical_structure Sirolimus TSC1 TSC2 business 030217 neurology & neurosurgery medicine.drug Signal Transduction |
| Popis: | Tuberous sclerosis complex (TSC) is a genetic disorder arising from mutations in the TSC1 or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) signalling pathway leaves patients with TSC susceptible to the growth of non-malignant tumours in multiple organs. Previously, surgery was the main therapeutic option for TSC. However, pharmacological therapy with mTOR inhibitors such as everolimus and sirolimus is now emerging as an alternate approach. Everolimus and sirolimus have already been shown to be effective in treating subependymal giant cell astrocytoma (SEGA) and renal angiomyolipoma (AML), and everolimus is currently being evaluated in treating TSC-related epilepsy. In November 2013 a group of European experts convened to discuss the current options and practical considerations for treating various manifestations of TSC. This article provides evidence-based recommendations for the treatment of SEGA, TSC-related epilepsy and renal AML, with a focus on where mTOR inhibitor therapy may be considered alongside other treatment options. Safety considerations regarding mTOR inhibitor therapy are also reviewed. With evidence of beneficial effects in neurological and non-neurological TSC manifestations, mTOR inhibitors may represent a systemic treatment for TSC. |
| Databáze: | OpenAIRE |
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