Is Schimmelpenning Syndrome Associated with Intracranial Tumors? A Case Report.
Pilocytic astrocytoma
RASopathy
Schimmelpenning syndrome
Journal
Pediatric neurosurgery
ISSN: 1423-0305
Titre abrégé: Pediatr Neurosurg
Pays: Switzerland
ID NLM: 9114967
Informations de publication
Date de publication:
2019
2019
Historique:
received:
09
10
2018
accepted:
21
01
2019
pubmed:
18
3
2019
medline:
30
1
2020
entrez:
18
3
2019
Statut:
ppublish
Résumé
Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous and multisystem abnormalities most commonly manifested as cerebral, ocular, and skeletal defects [<xref ref-type="bibr" rid="ref1">1</xref>]. A single nucleotide mutation in the HRAS or KRAS genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. No HRAS or KRAS gene mutations were noted in the tumor on genetic sequencing. However, glial tumors have been associated with genetic mutations of RAS upregulation, which may imply a common pathway.
Identifiants
pubmed: 30879010
pii: 000497149
doi: 10.1159/000497149
doi:
Substances chimiques
KRAS protein, human
0
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
201-206Informations de copyright
© 2019 S. Karger AG, Basel.