Cerebellar Pleomorphic Xanthoastrocytoma with BRAF V600E Mutation.
BRAF V600E mutation
Cerebellum
Infratentorium
Pleomorphic xanthoastrocytoma
Journal
World neurosurgery
ISSN: 1878-8769
Titre abrégé: World Neurosurg
Pays: United States
ID NLM: 101528275
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
24
03
2020
revised:
12
04
2020
accepted:
13
04
2020
pubmed:
30
4
2020
medline:
12
9
2020
entrez:
30
4
2020
Statut:
ppublish
Résumé
Pleomorphic xanthoastrocytoma (PXA) is a rare type of astrocytoma with a peak incidence from 10 to 19 years of age. PXA is found most commonly in the supratentorium. When it is present in atypical areas such as the infratentorium, it is often overlooked as a potential differential diagnosis. This report discusses the case of an 18-year-old woman with a pure PXA in the left cerebellum. The case consists of interesting pathologic and molecular features which do not align with the literature about PXA: a positive finding for BRAF V600E mutation and a negative finding for cluster of differentiation 34 expression. A review of pure PXA cases in the infratentorium has also been completed. To our knowledge, this is the first case of PXA in the infratentorium with BRAF V600E mutation. The case also highlights the clinical relevance of including PXA as a differential diagnosis for lesions of the infratentorium.
Sections du résumé
BACKGROUND
Pleomorphic xanthoastrocytoma (PXA) is a rare type of astrocytoma with a peak incidence from 10 to 19 years of age. PXA is found most commonly in the supratentorium. When it is present in atypical areas such as the infratentorium, it is often overlooked as a potential differential diagnosis.
CASE DESCRIPTION
This report discusses the case of an 18-year-old woman with a pure PXA in the left cerebellum. The case consists of interesting pathologic and molecular features which do not align with the literature about PXA: a positive finding for BRAF V600E mutation and a negative finding for cluster of differentiation 34 expression. A review of pure PXA cases in the infratentorium has also been completed.
CONCLUSIONS
To our knowledge, this is the first case of PXA in the infratentorium with BRAF V600E mutation. The case also highlights the clinical relevance of including PXA as a differential diagnosis for lesions of the infratentorium.
Identifiants
pubmed: 32348888
pii: S1878-8750(20)30820-2
doi: 10.1016/j.wneu.2020.04.113
pii:
doi:
Substances chimiques
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
577-581Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.