KEGG   DISEASE: Subependymal giant cell astrocytoma
Entry
H01692                      Disease                                
Name
Subependymal giant cell astrocytoma
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 disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01692  Subependymal giant cell astrocytoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of brain or central nervous system
   2A00  Primary neoplasms of brain
    H01692  Subependymal giant cell astrocytoma
Related
pathway
hsa04150  mTOR signaling pathway
Gene
(TSC1) TSC1 [HSA:7248] [KO:K07206]
(TSC2) TSC2 [HSA:7249] [KO:K07207]
Drug
Everolimus [DR:D02714]
Comment
See also H00915 Tuberous sclerosis complex (TSC)
Other DBs
ICD-11: 2A00.0Y
ICD-10: D43.2
MeSH: D001254
Reference
  Authors
Franz DN
  Title
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.
  Journal
Biologics 7:211-21 (2013)
DOI:10.2147/BTT.S25095
Reference
PMID:32103336 (TSC1 TSC2)
  Authors
Fohlen M, Harzallah I, Polivka M, Giuliano F, Pons L, Streichenberger N, Dorfmuller G, Touraine R
  Title
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing  technology.
  Journal
Childs Nerv Syst 36:961-965 (2020)
DOI:10.1007/s00381-020-04551-4
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