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

被引：1
作者：
Mitsui, Nobuyuki [1 ]
Oikawa, Kensuke [2 ]
Tanino, Mishie [3 ]
Kinoshita, Manabu [1 ]
机构：
[1] Asahikawa Med Univ, Dept Neurosurg, Midorigaoka Higashi 2-1-1-1, Asahikawa, Hokkaido 0788510, Japan
[2] Asahikawa Med Univ, Dept Pathol, Asahikawa, Hokkaido, Japan
[3] Asahikawa Med Univ Hosp, Dept Diagnost Pathol, Asahikawa, Hokkaido, Japan
来源：
JOURNAL OF SURGICAL CASE REPORTS | 2021年 / 2021卷 / 09期
基金：
日本学术振兴会;
关键词：
atypical teratoid; rhabdoid tumor; bilateral cerebellopontine angles; SMARCB1 (INI1); SMARCA4 (BRG1); CHILDHOOD; MUTATIONS;
D O I：
10.1093/jscr/rjab400
中图分类号：
R61 [外科手术学];
学科分类号：
摘要：
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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共 15 条
  • [1] Biegel JA, 1999, CANCER RES, V59, P74
  • [2] Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4)
    Bookhout, Christine
    Bouldin, Thomas W.
    Ellison, David W.
    [J]. NEUROPATHOLOGY, 2018, 38 (03) : 305 - 308
  • [3] hSNFS/INII-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities
    Bourdeaut, F.
    Freneaux, P.
    Thuille, B.
    Lellouch-Tubiana, A.
    Nicolas, A.
    Couturier, J.
    Pierron, G.
    Sainte-Rose, C.
    Bergeron, C.
    Bouvier, R.
    Rialland, X.
    Laurence, V.
    Michon, J.
    Sastre-Garau, X.
    Delattre, O.
    [J]. JOURNAL OF PATHOLOGY, 2007, 211 (03) : 323 - 330
  • [4] SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis
    Hasselblatt, Martin
    Nagel, Inga
    Oyen, Florian
    Bartelheim, Kerstin
    Russell, Robert B.
    Schueller, Ulrich
    Junckerstorff, Reimar
    Rosenblum, Marc
    Alassiri, Ali H.
    Rossi, Sabrina
    Schmid, Irene
    Gottardo, Nicholas G.
    Toledano, Helen
    Viscardi, Elisabetta
    Balbin, Milagros
    Witkowski, Leora
    Lu, Qianhao
    Betts, Matthew J.
    Foulkes, William D.
    Siebert, Reiner
    Fruehwald, Michael C.
    Schneppenheim, Reinhard
    [J]. ACTA NEUROPATHOLOGICA, 2014, 128 (03) : 453 - 456
  • [5] Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression
    Hasselblatt, Martin
    Gesk, Stefan
    Oyen, Florian
    Rossi, Sabrina
    Viscardi, Elisabetta
    Giangaspero, Felice
    Giannini, Caterina
    Judkins, Alexander R.
    Fruehwald, Michael C.
    Obser, Tobias
    Schneppenheim, Reinhard
    Siebert, Reiner
    Paulus, Werner
    [J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2011, 35 (06) : 933 - 935
  • [6] Adult variant of atypical teratoid/rhabdoid tumor: Immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica
    Heras, Facundo Las
    Pritzker, Kenneth P. H.
    [J]. PATHOLOGY RESEARCH AND PRACTICE, 2010, 206 (11) : 788 - 791
  • [7] Imaging characteristics of atypical teratoid-rhabdoid tumor in children compared with medulloblastoma
    Koral, Korgun
    Gargan, Lynn
    Bowers, Daniel C.
    Gimi, Barjor
    Timmons, Charles F.
    Weprin, Bradley
    Rollins, Nancy K.
    [J]. AMERICAN JOURNAL OF ROENTGENOLOGY, 2008, 190 (03) : 809 - 814
  • [8] Atypical teratoid/rhabdoid tumors of the central nervous system: imaging and clinical findings in 16 children
    Lee, I. H.
    Yoo, S. Y.
    Kim, J. H.
    Eo, H.
    Kim, O. H.
    Kim, I-O
    Cheon, J. -E.
    Jung, A. Y.
    Yoon, B. J.
    [J]. CLINICAL RADIOLOGY, 2009, 64 (03) : 256 - 264
  • [9] The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary
    Louis, David N.
    Perry, Arie
    Reifenberger, Guido
    von Deimling, Andreas
    Figarella-Branger, Dominique
    Cavenee, Webster K.
    Ohgaki, Hiroko
    Wiestler, Otmar D.
    Kleihues, Paul
    Ellison, David W.
    [J]. ACTA NEUROPATHOLOGICA, 2016, 131 (06) : 803 - 820
  • [10] Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas
    Patil, Sushama
    Perry, Arie
    MacCollin, Mia
    Dong, Shumin
    Betensky, Rebecca A.
    Yeh, Tu-Hsueh
    Gutmann, David H.
    Stemmer-Rachamimov, Anat O.
    [J]. BRAIN PATHOLOGY, 2008, 18 (04) : 517 - 519
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