SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report.
SMARCA4 (BRG1)
SMARCB1 (INI1)
atypical teratoid/rhabdoid tumor
bilateral cerebellopontine angles
Journal
Journal of surgical case reports
ISSN: 2042-8812
Titre abrégé: J Surg Case Rep
Pays: England
ID NLM: 101560169
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
18
07
2021
accepted:
20
08
2021
entrez:
6
10
2021
pubmed:
7
10
2021
medline:
7
10
2021
Statut:
epublish
Résumé
Most atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system shows an inactivation of SMARCB1 (INI1) and is considered as the hallmark of this neoplasm. However, AT/RT could exceptionally rarely present retained SMARCB1 (INI1) but inactivated SMARCA4 (BRG1). Here, the authors report a rare case of a 2-year-old boy with a SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative AT/RT arising at the bilateral cerebellopontine angles mimicking neurofibromatosis type 2. The tumor was highly aggressive and was refractory to all treatment modalities. This case highlights the challenges during differential diagnosis of atypical cerebellopontine angle tumors of childhood and the importance of thoroughly investigating SMARCB1 (INI1) and SMARCA4 (BRG1) when AT/RT is suspected.
Identifiants
pubmed: 34611487
doi: 10.1093/jscr/rjab400
pii: rjab400
pmc: PMC8485679
doi:
Types de publication
Case Reports
Langues
eng
Pagination
rjab400Informations de copyright
Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2021.
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