Mitsui Nobuyuki, Oikawa Kensuke, Tanino Mishie, Kinoshita Manabu
Department of Neurosurgery, Asahikawa Medical University, Asahikawa, Japan.
Department of Pathology, Asahikawa Medical University, Asahikawa, Japan.
J Surg Case Rep. 2021 Sep 30;2021(9):rjab400. doi: 10.1093/jscr/rjab400. eCollection 2021 Sep.
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.
大多数中枢神经系统非典型畸胎样/横纹肌样肿瘤（AT/RT）表现出SMARCB1（INI1）失活，这被认为是该肿瘤的标志。然而，AT/RT极其罕见地可能出现SMARCB1（INI1）保留但SMARCA4（BRG1）失活的情况。在此，作者报告了一例罕见病例，一名2岁男孩双侧桥小脑角出现SMARCB1（INI1）保留但SMARCA4（BRG1）阴性的AT/RT，酷似2型神经纤维瘤病。该肿瘤具有高度侵袭性，对所有治疗方式均耐药。此病例凸显了儿童非典型桥小脑角肿瘤鉴别诊断中的挑战，以及在怀疑为AT/RT时全面检测SMARCB1（INI1）和SMARCA4（BRG1）的重要性。
