|Name||Subependymal giant cell astrocytoma (SEGA)|
|Description||Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative, they commonly arise in the region of the foramen of Monro, where they can cause obstructive hydrocephalus and sudden death. TSC is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 genes. These mutations lead to constitutive upregulation of the mammalian target of rapamycin (mTOR) pathway, which affects many cellular processes involved in tumor growth. Clinical studies have demonstrated that mTOR inhibitors can induce regression of SEGA in patients with TSC, providing a viable alternative to surgical removal.|
|Category||Nervous system diseases|
|Gene||TSC1 (mutation) [HSA:7248] [KO:K07206]
TSC2 (mutation) [HSA:7249] [KO:K07207]
|Comment||See also H00915 Tuberous sclerosis complex (TSC)|
|Other DBs||ICD-10: D43.2
|Reference||PMID:22562196 (gene, drug)
Beaumont TL, Limbrick DD, Smyth MD
Advances in the management of subependymal giant cell astrocytoma.
Childs Nerv Syst 28:963-8 (2012)
PMID:21047224 (gene, drug)
Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P, Wilson KA, Byars A, Sahmoud T, Franz DN
Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis.
N Engl J Med 363:1801-11 (2010)
PMID:24143074 (gene, drug)
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.
Biologics 7:211-21 (2013)
PMID:23391693 (gene, drug)
Jozwiak S, Nabbout R, Curatolo P
Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations.
Eur J Paediatr Neurol 17:348-52 (2013)
PMID:25557360 (gene, drug)
Trelinska J, Dachowska I, Kotulska K, Baranska D, Fendler W, Jozwiak S, Mlynarski W
Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis.
Pediatr Blood Cancer 62:616-21 (2015)