Primary Adult Atypical Teratoid Rhabdoid Tumor of Spine : Extremely Rare Case and Review of Literature
Year: 2024
Type: article
Study design: Case Report
Abstract: IntroductionAtypical teratoid rhabdoid tumors (ATRTs) constitute a rare, highly malignant aggressive central nervous system embryonal neoplasms [1].Atypical Teratoid Rhabdoid Tumor (ATRT) is defined as a high-grade malignancy composed of poorly differentiated cells and a variable number of rhabdoid cells with a potential to differentiate along neuroepithelial, epithelial and mesenchymal cell line.Predominantly recognized for their occurrence in the pediatric population, ATRTs have been 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.
Authors: Deepthi B, Rukmangadha N, Aruna K Prayaga
Institution: Sri Venkateswara Institute of Medical Sciences
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4407551655