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

Author:

Mitsui Nobuyuki1,Oikawa Kensuke2,Tanino Mishie3,Kinoshita Manabu1

Affiliation:

1. Department of Neurosurgery, Asahikawa Medical University, Asahikawa, Japan

2. Department of Pathology, Asahikawa Medical University, Asahikawa, Japan

3. Department of Diagnostic Pathology, Asahikawa Medical University Hospital, Asahikawa, Japan

Abstract

Abstract 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.

Publisher

Oxford University Press (OUP)

Subject

Surgery

Reference15 articles.

1. Intact INI1 gene region with paradoxical loss of protein expression in AT/RT;Tsai;Am J Surg Pathology,2012

2. Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary;Patil;Sporadic Schwannomas Brain Pathol,2008

3. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome;Schneppenheim;Am J Hum Genetics,2010

4. SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis;Hasselblatt;Acta Neuropathol,2014

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