SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report

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...

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Autores principales: Mitsui, Nobuyuki, Oikawa, Kensuke, Tanino, Mishie, Kinoshita, Manabu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485679/
https://www.ncbi.nlm.nih.gov/pubmed/34611487
http://dx.doi.org/10.1093/jscr/rjab400
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author Mitsui, Nobuyuki
Oikawa, Kensuke
Tanino, Mishie
Kinoshita, Manabu
author_facet Mitsui, Nobuyuki
Oikawa, Kensuke
Tanino, Mishie
Kinoshita, Manabu
author_sort Mitsui, Nobuyuki
collection PubMed
description 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.
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spelling pubmed-84856792021-10-04 SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report Mitsui, Nobuyuki Oikawa, Kensuke Tanino, Mishie Kinoshita, Manabu J Surg Case Rep Case Report 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. Oxford University Press 2021-09-30 /pmc/articles/PMC8485679/ /pubmed/34611487 http://dx.doi.org/10.1093/jscr/rjab400 Text en Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2021. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mitsui, Nobuyuki
Oikawa, Kensuke
Tanino, Mishie
Kinoshita, Manabu
SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report
title SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report
title_full SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report
title_fullStr SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report
title_full_unstemmed SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report
title_short SMARCB1 (INI1) retained but SMARCA4 (BRG1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report
title_sort smarcb1 (ini1) retained but smarca4 (brg1) negative atypical teratoid/rhabdoid tumor arising at the bilateral cerebellopontine angles: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485679/
https://www.ncbi.nlm.nih.gov/pubmed/34611487
http://dx.doi.org/10.1093/jscr/rjab400
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