Atypical teratoid/rhabdoid tumor
Updates to Article Attributes
Atypical teratoid/rhabdoid tumours (AT/RT) are an uncommon WHO grade IV tumour, which in the vast majority of cases occurs in young children less than two years of age. It most frequently presents as a posterior fossa mass. AT/RT often resembles medulloblastoma by imaging and even H&E microscopy, and the diagnosis requires cytogenetic analysis of the tissue.
Epidemiology
They present in young children (median age is less than 2-3 years 2), whereas medulloblastomas typically occur in mid-childhood (median age 6 years).
Pathology
Microscopic features
Rhabdoid cells are the hallmark of AT/RT, but only comprise a fraction of the tumour. Other portions of the tumour are indistinguishable on imaging and histology from a medulloblastoma or embryonal tumour with multilayered rosettes.
According to 2016 WHO classification scheme, a diagnosis of AT/RT requires confirmation of specific genetic aberration (loss of INI1 tumour suppressor gene on chromosome 22 or BRG1 gene); otherwise, a descriptive diagnosis of CNS embryonal tumour with rhabdoid features is used 8,10.
Immunophenotype
Radiographic features
Atypical teratoid/rhabdoid tumourtumours are usually large and very heterogeneous masses. They may be difficult to distinguish from a PNET by imaging.
Location
- infratentorial: ~50%
- cerebellum (most common)
- brainstem
- supratentorial
- cerebral hemispheres
- pineal gland region (see pineal mass differential diagnosis)
- septum pellucidum
- hypothalamus
CT
- often isodense to grey matter
- may demonstrate heterogeneous enhancement
- calcification is common
- may show associated obstructive hydrocephalus
MRI
Can show necrosis, multiple foci of cyst formation and sometimes haemorrhage:
- T1: iso- to slightly hyperintense to grey matter (haemorrhagic areas can be more hyperintense)
- T2: generally hyperintense (haemorrhagic areas can be hypointense)
- T1 C+ (Gd): heterogeneous enhancement
- MR spectroscopy
-
DWI
- almost all restrict diffusion
Leptomeningeal seeding has been described in up to 15-30% of cases and so post-contrast imaging of the entire neuroaxis should be considered in suspected AT/RTs.
Treatment and prognosis
Surgery with debulking can be offered in some cases. Tumours can demonstrate leptomeningeal dissemination. Clinically AT/RTs have a much poorer prognosis than medulloblastomas, with little if any response to chemotherapy and death usually occurring within a year of diagnosis.
History and etymology
Primary CNS rhabdoid tumour was first identified as a unique entity in the mid/late 1980's. Prior to this, these tumours were likely misdiagnosed as primitive neuroectodermal tumour/medulloblastoma, as they are relatively similar in microscopic appearance 12. Early reports variably used the term malignant rhabdoid tumour.
Differential diagnosis
Imaging differential considerations include:
- supratentorial CNS PNET: particularly for supratentorial ATRTs
-
medulloblastoma
- tends to occur in an older age group 6
- rarely involve cerebellopontine angle
- haemorrhage is much less frequently seen than in AT/RTs 6
- intracranial teratoma
-</ul><h4>Radiographic features</h4><p>Atypical teratoid/rhabdoid tumour are usually large and very heterogeneous masses. They may be difficult to distinguish from a PNET by imaging.</p><h5>Location</h5><ul>- +</ul><h4>Radiographic features</h4><p>Atypical teratoid/rhabdoid tumours are usually large and very heterogeneous masses. They may be difficult to distinguish from a PNET by imaging.</p><h5>Location</h5><ul>
-<li>Cho: elevated</li>-<li>NAA: decreased</li>- +<li>
- +<a title="Choline peak" href="/articles/choline-peak">Cho</a>: elevated</li>
- +<li>
- +<a title="N-acetylaspartate (NAA) peak" href="/articles/n-acetylaspartate-naa-peak">NAA</a>: decreased</li>
References changed:
- 7. Amit Agrawal, Dhaval P. Shukla, Arvind Bhake et-al. Early Childhood Paraspinal Atypical Teratoid/Rhabdoid Tumor: Failure of Standard Treatments. (2021) <a href="https://doi.org/10.1007/978-94-007-6591-7_18">doi:10.1007/978-94-007-6591-7_18</a> <span class="ref_v4"></span>
- 9. Ahitagni Biswas, Lakhan Kashyap, Aanchal Kakkar et-al. Atypical teratoid/rhabdoid tumors: challenges and search for solutions. (2016) Cancer Management and Research. 8: 115. <a href="https://doi.org/10.2147/CMAR.S83472">doi:10.2147/CMAR.S83472</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27695363">Pubmed</a> <span class="ref_v4"></span>
- 10. David N. Louis, Arie Perry, Guido Reifenberger et-al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. (2016) Acta Neuropathologica. 131 (6): 803. <a href="https://doi.org/10.1007/s00401-016-1545-1">doi:10.1007/s00401-016-1545-1</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27157931">Pubmed</a> <span class="ref_v4"></span>
- 11. D. M.-T. Ho, C.-Y. Hsu, T.-T. Wong et-al. Atypical teratoid/rhabdoid tumor of the central nervous system: a comparative study with primitive neuroectodermal tumor/medulloblastoma. (2016) Acta Neuropathologica. 99 (5): 482. <a href="https://doi.org/10.1007/s004010051149">doi:10.1007/s004010051149</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/26811110">Pubmed</a> <span class="ref_v4"></span>
- 12. Lucy Balian Rorke, Roger J. Packer, Jaclyn A. Biegel. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. (2009) Journal of neurosurgery. 85 (1): 56-65. <a href="https://doi.org/10.3171/jns.1996.85.1.0056">doi:10.3171/jns.1996.85.1.0056</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/8683283">Pubmed</a> <span class="ref_v4"></span>
- 7. Agrawal, Amit, et al. "Early Childhood Paraspinal Atypical Teratoid/Rhabdoid Tumor: Failure of Standard Treatments." Pediatric Cancer, Volume 4. Springer Netherlands, 2013. 195-198.
- 9. Ahitagni Biswas, Lakhan Kashyap, Aanchal Kakkar, Chitra Sarkar, Pramod Kumar Julka. Atypical teratoid/rhabdoid tumors: challenges and search for solutions. (2016) Cancer Management and Research. 8: 115. <a href="https://doi.org/10.2147/CMAR.S83472">doi:10.2147/CMAR.S83472</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27695363">Pubmed</a> <span class="ref_v4"></span>
- 10. David N. Louis, Arie Perry, Guido Reifenberger, Andreas von Deimling, Dominique Figarella-Branger, Webster K. Cavenee, Hiroko Ohgaki, Otmar D. Wiestler, Paul Kleihues, David W. Ellison. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. (2016) Acta Neuropathologica. 131 (6): 803. <a href="https://doi.org/10.1007/s00401-016-1545-1">doi:10.1007/s00401-016-1545-1</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27157931">Pubmed</a> <span class="ref_v4"></span>
- 11. D. M.-T. Ho, C.-Y. Hsu, T.-T. Wong, L.-T. Ting, H. Chiang. Atypical teratoid/rhabdoid tumor of the central nervous system: a comparative study with primitive neuroectodermal tumor/medulloblastoma. (2016) Acta Neuropathologica. 99 (5): 482. <a href="https://doi.org/10.1007/s004010051149">doi:10.1007/s004010051149</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/26811110">Pubmed</a> <span class="ref_v4"></span>
- 12. Lucy Balian Rorke,, Roger J. Packer,, Jaclyn A. Biegel. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. (2009) Journal of neurosurgery. 85 (1): 56-65. <a href="https://doi.org/10.3171/jns.1996.85.1.0056">doi:10.3171/jns.1996.85.1.0056</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/8683283">Pubmed</a> <span class="ref_v4"></span>