Rosette-Forming Glioneuronal Tumor in Opticochiasmatic Region-Novel Entity in New Location.
Diagnosis
Management
Opticochiasmatic region
Rosette-forming glioneuronal tumor
Journal
World neurosurgery
ISSN: 1878-8769
Titre abrégé: World Neurosurg
Pays: United States
ID NLM: 101528275
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
24
01
2019
revised:
06
02
2019
accepted:
07
02
2019
pubmed:
23
2
2019
medline:
7
11
2019
entrez:
22
2
2019
Statut:
ppublish
Résumé
Rosette-forming glioneuronal tumour [RGNT] is a relatively rare entity first identified as a separate entity in 2002. We are reporting the second case of RGNT in the opticochiasmatic region. We report a case report and literature review of RGNT with syndromic association. Although initial reports were predominantly in the fourth ventricle, many recent reports have identified the possibility of its occurrence outside fourth ventricle in pineal gland, spinal cord, septum pellucidum, lateral ventricle, and suprasellar region. To date, only 1 case of RGNT involving the opticochiasmatic region has been reported in a patient with neurofibromatosis type 1. Genetic analysis of this rare tumor identified 3 hotspots involving somatic mutations of FGFR-1 and PIK3CA and a germline mutation involving PTPN11, which can be targets for therapeutic intervention in cases where complete resection is not possible. To the best of our knowledge, we report the first case of RGNT involving the opticochiasmatic region without any syndromic association. Other cases of RGNT with syndromic associations provide us with insight into possible therapeutic interventions.
Sections du résumé
BACKGROUND
Rosette-forming glioneuronal tumour [RGNT] is a relatively rare entity first identified as a separate entity in 2002. We are reporting the second case of RGNT in the opticochiasmatic region.
CASE DESCRIPTION
We report a case report and literature review of RGNT with syndromic association.
CONCLUSIONS
Although initial reports were predominantly in the fourth ventricle, many recent reports have identified the possibility of its occurrence outside fourth ventricle in pineal gland, spinal cord, septum pellucidum, lateral ventricle, and suprasellar region. To date, only 1 case of RGNT involving the opticochiasmatic region has been reported in a patient with neurofibromatosis type 1. Genetic analysis of this rare tumor identified 3 hotspots involving somatic mutations of FGFR-1 and PIK3CA and a germline mutation involving PTPN11, which can be targets for therapeutic intervention in cases where complete resection is not possible. To the best of our knowledge, we report the first case of RGNT involving the opticochiasmatic region without any syndromic association. Other cases of RGNT with syndromic associations provide us with insight into possible therapeutic interventions.
Identifiants
pubmed: 30790744
pii: S1878-8750(19)30362-6
doi: 10.1016/j.wneu.2019.02.003
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
253-256Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.