Atypical Teratoid-Rhabdoid Tumor (AT/RT)
Last Updated: March 27, 2020
- Aggressive, infiltrative pediatric rhabdoid tumor with highly variable appearance and histology
- WHO grade IV
- Involves mesenchymal, neuronal, glial, and epithelial cell lines (“teratoid”)
- ± Rhabdoid cells, primitive neuroectodermal cells
- Mutations of SMARCB1/hSNF5 and loss of INI1 protein is diagnostic of AT/RT
- Familial mutations in rhabdoid tumor predisposition syndrome (RTPS)
- Most commonly afflicts children <3 years and usually in the posterior fossa; tumors in adults are often in atypical locations
- No gender predilection
- Common presenting signs/symptoms related to increased intracranial pressure/hydrocephalus
- Vomiting, altered mental status, macrocephaly
Treatment: surgical resection ± adjuvant chemoradiation
- Often unresectable
Prognosis: overall 5-year survival less than 30%
- Survival with leptomeningeal spread: 16 months
- Survival without leptomeningeal spread: 149 months
- Highly variable, nonspecific morphology and imaging characteristics
- Supra- or infratentorial
- More than half arise within the posterior fossa
- Variable size; often large at time of diagnosis
- Mixed solid-cystic mass
- ± Calcification, hemorrhage, and necrosis
- ± Obstructive hydrocephalus
- Leptomeningeal/CSF dissemination common (>30%)
- Hyperdense mass
- Hyperdense calcification and hemorrhage or hypodense cysts may be seen
- Avid, heterogeneous enhancement on contrast-enhanced CT
- T1WI: heterogeneous signal due to cystic or hemorrhagic components
- T2WI: heterogeneous signal due to cystic or hemorrhagic components
- FLAIR: heterogeneous, hyperintense periventricular signal due to hydrocephalus/interstitial edema, little peritumoral edema
- T2*GRE: hypointense signal due to calcification and hemorrhage
- T1WI+C: majority show heterogeneous enhancement, may see enhancing CSF dissemination along the brain, cranial nerves, spinal nerves, or spinal cord
- DWI: demonstrates diffusion restriction in hypercellular regions of tumor
- MR spectroscopy: elevated Cho, decreased NAA, ± lactate/lipid peaks
- MRI without and with IV contrast including both brain and spine due to risk of CSF dissemination
For more information, please see the corresponding chapter in Radiopaedia.
Contributor: Rachel Seltman, MD
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Koral K, et al. Imaging characteristics of atypical teratoid-rhabdoid tumor in children compared with medulloblastoma. AJR Am J Roentgenol. 2008;190:809-814.
Margol AS, et al. Pathology and diagnosis of SMARCB1-deficient tumors. Cancer Genet. 2014;207:358-364.
Meyers SP, et al. Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol. 2006;27:962-971.
Osborn AG, Salzman KL, Jhaveri MD. Diagnostic Imaging (3rd ed). Philadelphia, PA: Elsevier, 2016.
Parmar H, et al. Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors. Pediatr Radiol. 2006;36:126-132.
Warmuth-Metz M, et al. CT and MR imaging in atypical teratoid/rhabdoid tumors of the central nervous system. Neuroradiology. 2008;50:447-452.
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