Atypical Teratoid Rhabdoid Tumor: Proposal of a Diagnostic Pathway Based on Clinical Features and Neuroimaging Findings

Purpose: To assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) in order to build a predefined pathway useful for the diagnosis. Methods: We enrolled 11 ATRT patients (10 children, one adult) and we conducted a literature search on PubMed Central using the key terms adult or pediatric and atypical teratoid/rhabdoid tumor. We collected clinical and neuroradiological data reported in previous studies and combined them with those from our case series. A three step process was built to reach diagnosis by identifying the main distinctive clinical and imaging features. Results: Clinical evaluation: neurological symptoms were nonspecific. ATRT was more frequent in children under 3 years of age (7 out of 10 children) and infratentorial localization was reported more frequently in children under the age of 24 months. Midline/off-midline localization was influenced by the age. Imaging findings: Preferential location near the ventricles and liquor spaces and the presence of eccentric cysts were hallmark for ATRT; higher frequency of peripheral cysts was detected in children and in the supratentorial compartment (five out of eight patients with solid-cystic ATRT). Leptomeningeal dissemination at diagnosis was common (5 out of 10 children), while intratumoral hemorrhage, calcifications, and high cellularity were non-specific findings. Histopathological analysis: specific immunohistochemical markers were essential to confirm the diagnosis. Conclusion: In younger children, a bulky, heterogeneous mass with eccentric cystic components and development near ventricles or cisternal spaces may be suggestive of ATRT. ATRT diagnosis is more challenging in adults and relies exclusively on neuropathological examination.

Automated summary

This study aims to assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) and build a predefined pathway for diagnosis. Clinical evaluation showed that ATRT was more common in children under 3 years old, with infratentorial localization reported more frequently in children under 24 months. Imaging findings revealed that ATRT had a preferential location near the ventricles and liquor spaces, with eccentric cysts as a hallmark feature. Histopathological analysis confirmed the diagnosis using specific immunohistochemical markers. The diagnosis of ATRT is more challenging in adults and relies solely on neuropathological examination.