Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report.
Astroblastoma
BEN domain-containing 2 (BEND2)
CNS high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1)
EWSR1-BEND2 fusion
Ewing Sarcoma breakpoint region 1/EWS RNA-binding protein 1 (EWSR1)
Journal
Brain tumor pathology
ISSN: 1861-387X
Titre abrégé: Brain Tumor Pathol
Pays: Japan
ID NLM: 9716507
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
received:
24
04
2021
accepted:
15
07
2021
pubmed:
28
7
2021
medline:
15
1
2022
entrez:
27
7
2021
Statut:
ppublish
Résumé
The most recurrent fusion of central nervous system high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1) is MN1 rearrangement. Here, we report the case of a 36-year-old man with spinal cord astroblastoma showing Ewing Sarcoma breakpoint region 1/EWS RNA-binding protein 1 (EWSR1)-BEN domain-containing 2 (BEND2) fusion. The patient presented with back pain, gait disturbance and dysesthesia in the lower extremities and trunk. Magnetic resonance imaging showed an intramedullary tumor at the T3-5 level, displaying homogeneous gadolinium enhancement. Partial tumor removal was performed with laminectomy. Histological examinations demonstrated solid growth of epithelioid tumor cells showing high cellularity, a pseudopapillary structure, intervening hyalinized fibrous stroma, and some mitoses. Astroblastoma was diagnosed, classified as HGNET-MN1 by the German Cancer Research Center methylation classifier. MN1 alteration was not detected by fluorescence in situ hybridization (FISH), but EWSR1-BEND2 fusion was detected by FISH and RNA sequencing. Previously, a child with EWSR1-BEND2 fusion-positive spinal astroblastoma classified as HGNET-MN1 was reported. In conjunction with that, the present case provides evidence that EWSR1-BEND2 fusion is identified in the entity of HGNET-MN1. Taken together, the BEND2 alteration rather than MN1 may determine the biology of a subset of the central nervous system HGNET-MN1 subclass.
Identifiants
pubmed: 34313881
doi: 10.1007/s10014-021-00412-3
pii: 10.1007/s10014-021-00412-3
doi:
Substances chimiques
Contrast Media
0
EWSR1 protein, human
0
MN1 protein, human
0
RNA-Binding Protein EWS
0
Trans-Activators
0
Tumor Suppressor Proteins
0
Gadolinium
AU0V1LM3JT
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
283-289Subventions
Organisme : the Ministry of Education, Culture, Sports, Science, and Technology, Japan
ID : 19K09505 and 19K22685
Informations de copyright
© 2021. The Japan Society of Brain Tumor Pathology.
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