Aggressive atypical teratoid/rhabdoid tumor with extensive leptomeningeal metastasis in an 8-year-old boy: a case report and narrative review.

BACKGROUND

Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive embryonal neoplasm in the central nervous system (CNS) that predominately afflicts children younger than 3 years old. AT/RT in older children tends to be less aggressive, with a much-improved overall survival (OS). This study reports a rare case of AT/RT with extensive leptomeningeal metastasis in an 8-year-old boy.

CASE DESCRIPTION: Here, we report a case of AT/RT in an 8-year-old boy with an acute clinical course. The patient presented with headache and vomiting and became lethargic within 4 days. Neuroimaging confirmed a supratentorial heterogenous mass with calcification and cystic changes, along with extensive leptomeningeal disease along the spinal cord. Pathology confirmed the diagnosis of integrase interactor 1 (INI-1) negative AT/RT. The patient was discharged to home at the family's request despite a deteriorating post-operative condition and had an OS of only four months following surgery.

CONCLUSIONS

AT/RT in older children may also exhibit highly aggressive behavior. Our findings emphasize the need for heightened awareness of leptomeningeal metastasis and the importance of early therapeutic intervention in older children with CNS AT/RT. Clinical management can be challenging due to a lack of randomized trials, especially in patients with extensive leptomeningeal disease.