Abstract

Atypical teratoid rhabdoid tumors (ATRTs) constitute a rare, highly malignant aggressive central nervous system embryonal neoplasms. While spinal ATRTs are exceptionally uncommon, their clinical significance is underscored by the aggressive nature of the disease and the formidable challenges they pose to diagnosis and management. Characterized by a distinctive histopathological profile, ATRTs exhibit features of primitive/ undifferentiated cells with variable rhabdoid morphology. These tumors are linked to biallelic inactivation of the INI1 (SMARCB1) gene or rarely SMARCA4, contributing to their pathogenesis. This scientific exploration is regarding a thirty-nine-year-old female who presented with sudden onset weakness in both the lower limbs and MRI study of cervical spine revealed as extra axial enhancing lesion at D1-D2 level suggestive of meningioma followed by histological diagnoses of primary adult ATRT of the spine. The case report aims to delve into the unique aspects of ATRTs arising in the spinal cord, providing an overview of their clinical presentation, histopathological characteristics, and the challenges associated with diagnosis. Furthermore, the review will discuss current perspectives on the molecular mechanisms underlying spinal ATRTs, emphasizing the significance of the INI1 gene alterations.