mTOR inhibice: nové možnosti farmakologické léčby nádorů u pacientů s tuberózní sklerózou

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Title in English mTOR inhibition: new possibilities in pharmacologic treatment of tumours in patients with tuberous sclerosis
Authors

ZITTERBART Karel

Year of publication 2014
Type Article in Periodical
Magazine / Source Postgraduální medicína
MU Faculty or unit

Faculty of Medicine

Citation
Field Oncology and hematology
Keywords tuberous sclerosis complex; subependymal giant cell astrocytoma; angiomyolipoma; everolimus
Description Tuberous sclerosis (tuberous sclerosis complex, TSC) is a neurocutaneous syndrome that results from a germline mutation in TSC1 or TSC2 genes. An incidence of TSC is approximately 1 in 6000 live births. TSC is characterized by involvement of central nervous tissues and other organ systems. The pathogenic activation of mTORC1 leads to the development of subependymal giant cell astrocytoma (SEGA) and renal angiomyolipoma (AML) in TSC patients. Blocking this pathway using mTOR inhibitors has the potential to reduce the volume of SEGA and AML as documented in phase 3 studies. Long term follow-up and early therapeutical intervention should lead to the reduction of mortality and morbidity and quality of life improvement in TSC patients.
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