Familial intracranial ependymoma mimicking an extra-lesion: A case report and review of the literature.
Brain tumour
Ependymoma
Familial
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:
Apr 2020
Apr 2020
Historique:
received:
15
11
2019
accepted:
11
01
2020
pubmed:
9
3
2020
medline:
18
8
2020
entrez:
9
3
2020
Statut:
ppublish
Résumé
Familial occurrence of intracranial ependymoma, in the absence of neurofibromatosis type 2 (NF2), is very rare with only a few cases reported in the literature. We report a 62-year-old man, who presented with a posterior fossa ependymoma with the majority of the lesion in the cerebellopontine angle, mimicking an extra-axial tumour. His two brothers also had 4th ventricular ependymomas requiring surgical resection. Such cases add weight to the suggestion of a genetically predisposing mutation in familial cases of intracranial ependymomas. Further genetic testing may help to elucidate the location of the genetic abnormality in patients with non-NF2 familial intracranial ependymomas and promote a better understanding of this rare pathological entity.
Identifiants
pubmed: 32146015
pii: S0967-5868(19)32247-7
doi: 10.1016/j.jocn.2020.01.051
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
250-253Informations de copyright
Copyright © 2020. Published by Elsevier Ltd.
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.