Tuberous sclerosis complex with sub-ependymal giant cell astrocytomas
نویسندگان
چکیده
منابع مشابه
Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex
Rapamycin inhibits the mTOR (target of rapamycin) pathway and extends lifespan in multiple species. The tuberous sclerosis complex (TSC) protein is a negative regulator of mTOR. In humans, loss of the TSC protein results in a disorder characterized clinically by the growth of benign tumors in multiple organs, due to overactivation of mTOR inhibition. Subependymal giant cell astrocytomas (SEGAs)...
متن کاملAggressive retinal astrocytomas in four patients with tuberous sclerosis complex.
OBJECTIVE To report the clinical and histopathologic findings of retinal astrocytic tumors that showed progressive growth in four patients with tuberous sclerosis complex (TSC). METHODS Four young children each developed an enlarging retinal neoplasm that eventually necessitated enucleation of the affected eye. The systemic findings, clinical course, and histopathologic findings were reviewed...
متن کاملEverolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. It is characterized by the development of multiple, benign tumors in several organs throughout the body. Lesions occur in the brain, kidneys, heart, liver, lungs, and skin and result in seizures and epilepsy, mental retardation, autism, and renal and pulm...
متن کاملSubependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
Subependymal giant cell astrocytomas (SEGAs) are rare, low-grade glioneuronal brain tumors that occur almost exclusively in patients with tuberous sclerosis complex (TSC). Though histologically benign, SEGAs can lead to serious neurological complications, including hydrocephalus, intractable seizures and death. Previous studies in a limited number of SEGAs have provided evidence for a biallelic...
متن کامل[Subependymal giant cell astrocytoma (tuberous sclerosis)].
Two cases of tuberous sclerosis with subependymal giant cell astrocytoma are presented. This rare autosomal dominant disorder was also detected in family members of the patients who had never had any symptoms of cerebral involvement. Both patients underwent surgery because of signs of increased intracranial pressure.
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ژورنال
عنوان ژورنال: Journal of Cancer Research and Practice
سال: 2017
ISSN: 2311-3006
DOI: 10.1016/j.jcrpr.2017.05.002