Clinical diagnostic and radiographic features of primary spinal atypical teratoid rhabdoid tumor in a pediatric patient: A case report and review of the literature

Abstract

Atypical teratoid rhabdoid tumors (ATRTs) are rare embryonal tumors comprising 1-2% of all pediatric CNS neoplasms. Spinal ATRTs are even more uncommon, accounting for 2% of all reported ATRT cases. Despite their rarity, ATRTs affect young children disproportionately and are characterized by a high malignant potential due to a heterogeneous cellular composition and inactivating mutations in the SMARCB1 (90%) and SMARCA4 (10%) genes. A 15-month-old female presented with a 2-week history of decreased lower extremity movement and new-onset need for assistance with ambulation. MRI lumbar spine revealed a contrast-enhancing intradural mass at the L3-L4 level with iso-intensity on T1 and T2 sequences. The patient subsequently underwent subtotal tumor resection (∼80%) given concerns for maintaining neurological function. Final pathology was consistent with spinal ATRT, and she later underwent adjuvant chemoradiation therapy per ACNS0333 protocol. She has since remained in remission with age-appropriate developmental milestones over the past 2 years. ATRTs should be considered in the differential diagnosis of intradural spinal lesions, especially in the pediatric patient population. Clinical course, presentation, and diagnosis is often delayed due to the rarity of these tumors, but contrasted craniospinal MRI is key for diagnosis and histopathology with IHC staining showing loss of INI is confirmatory. While gross total resection is the goal, maximal safe tumor resection should be prioritized in order to preserve neurological function. Adjuvant chemoradiation following gross total/subtotal resection has been shown to significantly improve overall survival.