Purpose: 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.
Method: 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.
Result: 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.
Conclusion: 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.
Keywords: Paediatric; atypical teratoid/rhabdoid tumour; neurosurgery; pineal region.