IMG-16. DECIPHERING THE NEUROIMAGING SPECTRUM OF AT/RT: A PICTORIAL REVIEW OF ATYPICAL TERATOID/RHABDOID TUMORS

Abstract

Abstract BACKGROUND This study presents a detailed pictorial review of Atypical teratoid/rhabdoid tumor (AT/RT), a high-grade central nervous system (CNS) malignancy, emphasizing the relationship between neuroimaging characteristics and clinical, molecular, and histopathological aspects. AT/RT is mainly characterized by the biallelic inactivation of SMARCB1 and occasionally SMARCA4 genes. METHODS The review methodically analyzes neuroimaging findings from various imaging techniques, notably MRI. It documents AT/RT appearances in different brain regions, including the cerebellum, cerebellopontine angle cistern, intraventricular, suprasellar, supratentorial, pineal, spinal canal, and cranial nerves. The study integrates these findings with clinical presentation, molecular subtypes (AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC), and pathogenesis, highlighting the connection between imaging features and molecular subtypes. RESULTS The results indicate distinctive neuroimaging characteristics of CNS AT/RT, varying with tumor location and molecular subtypes. Common imaging features include contrast enhancement and signal intensity variations on MRI, including subtype-specific variations. Advanced neuroimaging plays a key role in distinguishing AT/RT from other pediatric CNS tumors, aiding in biopsy and treatment planning. Notably, imaging findings are linked with genetic changes, particularly the involvement of SMARCB1 and SMARCA4, affecting tumor appearance and behavior. CONCLUSIONS This review underscores the significance of neuroimaging in diagnosing and treating CNS AT/RT. The comprehensive analysis of imaging, combined with molecular and histopathological data, offers valuable insights into AT/RT’s heterogeneous nature. This integrative approach is crucial for a better understanding of AT/RT and for the development of more effective, targeted therapies.