Atypical Teratoid-Rhabdoid Tumor
Last Updated: August 23, 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 atypical teratoid-rhabdoid tumor (AT/RT)
- Familial mutations in rhabdoid tumor predisposition syndrome (RTPS)
- Most commonly afflicts children <3 years old and usually in the posterior fossa; tumors in adults are often in an atypical location
- 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, <30%
- Survival with leptomeningeal spread, 16 months
- Survival without leptomeningeal spread, 149 months
- Highly variable, nonspecific morphology and imaging characteristics
- Supratentorial 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/cerebrospinal fluid (CSF) dissemination common (>30%)
Computed Tomography (CT)
- Hyperdense mass
- Hyperdense calcification and hemorrhage or hypodense cysts may be seen
- Avid, heterogeneous enhancement on contrast-enhanced CT
Magnetic Resonance Imaging (MRI)
- T1-weighted imaging (T1WI), heterogeneous signal due to cystic or hemorrhagic components
- T2-weighted imaging (T2WI), heterogeneous signal due to cystic or hemorrhagic components
- Fluid-attenuated inversion recovery (FLAIR) imaging, heterogeneous, hyperintense periventricular signal due to hydrocephalus/interstitial edema, little peritumoral edema
- Gradient recalled echo T2*-weighted imaging (T2*GRE), hypointense signal due to calcification and hemorrhage
- T1WI+C imaging, majority show heterogeneous enhancement; may see enhancing CSF dissemination along the brain, cranial nerves, spinal nerves, or spinal cord
- Diffusion-weighted imaging (DWI), demonstrates diffusion restriction in hypercellular regions of tumor
- MR spectroscopy, elevated Cho, decreased NAA, ±lactate/lipid peaks
- MRI without and with intravenous 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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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.
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