Department of Neurosurgery, The First Hospital of Jilin University, Changchun, China.
Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, China.
Br J Neurosurg. 2023 Dec;37(6):1749-1752. doi: 10.1080/02688697.2021.1895971. Epub 2021 Mar 16.
Atypical teratoid/rhabdoid tumour (AT/RT) is a highly malignant central nervous system tumour of early childhood. According to the latest WHO classification, the diagnosis of AT/RTs needs to be confirmed by the absence of SMARCB1 (INI1) or SMARCA4 (BRG1) protein expression. AT/RT in the pineal region is infrequent and most have not been proven genetically. Here, we report a case of AT/RT in the pineal region, preoperatively misdiagnosed as a meningioma. Immunohistochemistry revealed the absence of INI1 protein expression.
A 29-month-old boy was admitted to the hospital after 14 days of emotional apathy and a 2-day vomiting history. AT/RT was not considered during the initial diagnosis because this tumour is rare in this region and is often accompanied by cystic degeneration and necrosis on imaging. Subsequently, the patient underwent surgery and the tumour was completely excised.
The pathological diagnosis was AT/RT. After discharge, the patient continued chemotherapy in other hospitals but died five months after surgery because of disease progression.
To our knowledge, this is the fifth case of paediatric pineal AT/RT confirmed genetically. Although in children AT/RT in the pineal gland is rare, a differential diagnosis of AT/RT should be considered when new pineal masses appear in children. For this highly malignant disease with poor prognosis, it is very important to detect and recognize the disease as soon as possible, and to adopt surgery plus multiple treatment management.
胚胎性肿瘤/横纹肌样瘤（AT/RT）是一种发生于儿童早期的高度恶性中枢神经系统肿瘤。根据最新的 WHO 分类，AT/RT 的诊断需要通过缺乏 SMARCB1（INI1）或 SMARCA4（BRG1）蛋白表达来确认。发生于松果体区的 AT/RT 较为罕见，且大多数未被证实具有遗传改变。在此，我们报告 1 例发生于松果体区的 AT/RT，术前误诊为脑膜瘤。免疫组化显示 INI1 蛋白表达缺失。
1 例 29 月龄男孩，因情绪淡漠 14 天伴呕吐 2 天入院。最初诊断未考虑 AT/RT，因为这种肿瘤在该部位罕见，且常伴有囊性变性和坏死。随后，患者接受了手术治疗，肿瘤被完全切除。
病理诊断为 AT/RT。出院后，患者继续在其他医院接受化疗，但术后 5 个月因疾病进展死亡。
据我们所知，这是第五例经遗传学证实的儿童松果体 AT/RT。尽管儿童松果体 AT/RT 罕见，但当儿童出现新的松果体肿块时，应考虑 AT/RT 的鉴别诊断。对于这种预后不良的高度恶性疾病，尽早发现和识别疾病并采用手术加多种治疗管理非常重要。
