Intracranial Ewing sarcoma with whole genome study.
Childs Nerv Syst
; 35(3): 547-552, 2019 03.
Article
de En
| MEDLINE
| ID: mdl-30406421
ABSTRACT
INTRODUCTION:
Ewing sarcoma (ES) as a primary intracranial tumor is very rare. Recently, CNS embryonal tumors with ES-like genomic change have been reported. Patients and methods We report a case of intracranial Ewing sarcoma in a 13-year-old girl who complained of headache and migraine. The tumor had developed in the right middle cranial fossa with a mass effect on the brain with impending transuncal herniation.RESULTS:
Undifferentiated small round cell morphology with completely negative results for friend leukemia integration 1 transcription factor (Fli-1) and a nonspecific cytoplasmic CD99-positive staining pattern mislead the diagnosis as central nervous system (CNS) embryonal tumor, NOS. However, whole genome sequencing (WGS) revealed Ewing sarcoma (EWS)-Fli-1 gene fusion, which was confirmed by fluorescence in situ hybridization study and the diagnosis was revised to ES.CONCLUSIONS:
This case is a true intracranial but extra-axial ES confirmed by WGS. We report this case of intracranial ES to demonstrate the importance of marker gene studies using FISH or NGS.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Sarcome d'Ewing
/
Tumeurs de la base du crâne
Limites:
Adolescent
/
Female
/
Humans
Langue:
En
Journal:
Childs Nerv Syst
Sujet du journal:
NEUROLOGIA
/
PEDIATRIA
Année:
2019
Type de document:
Article