Solitary subependymal giant cell astrocytoma: Case report and review of the literature.
Neuroradiology
SEGA
Subependymal giant cell astrocytoma
Tuberous sclerosis
Journal
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
ISSN: 1532-2653
Titre abrégé: J Clin Neurosci
Pays: Scotland
ID NLM: 9433352
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
05
06
2020
revised:
14
09
2020
accepted:
03
10
2020
entrez:
15
12
2020
pubmed:
16
12
2020
medline:
9
3
2021
Statut:
ppublish
Résumé
Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant hamartoma syndrome caused by mutations in TSC1 or TSC2 genes, leading to upregulation of cell growth signalling pathways. Subependymal giant cell astrocytomas (SEGAs) are seen almost exclusively in TSC patients. We report a 'solitary SEGA' in an adult patient, with confirmed deletion of the entire TSC2 gene on tumour tissue DNA, in the absence of detectable constitutional mutation or clinical manifestations of TSC. These rare cases may be secondary to somatic mosaicism and provide an opportunity to explore the genetic basis of the syndrome and its related tumours.
Identifiants
pubmed: 33317733
pii: S0967-5868(20)31569-1
doi: 10.1016/j.jocn.2020.10.017
pii:
doi:
Substances chimiques
TSC2 protein, human
0
Tuberous Sclerosis Complex 2 Protein
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
26-28Informations de copyright
Crown Copyright © 2020. Published by Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.