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Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor Treatment (PDQ®)

  • Last Modified: 04/02/2013

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Background Information About Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor

Clinical Behavior

Based on present biologic understanding, atypical teratoid/rhabdoid tumor (AT/RT) is part of a larger family of rhabdoid tumors. In this summary, AT/RT refers to central nervous system (CNS) tumors only and rhabdoid tumor reflects the possibility of both CNS and non-CNS tumors. Unless noted otherwise in the text, this summary is referring to AT/RT.


The exact incidence of childhood CNS AT/RT is difficult to determine because the tumor has been widely recognized only for the last decade. In two recent North American based prospective studies performed by the Children’s Cancer Group and the Pediatric Oncology Group for children aged 3 years or younger at diagnosis, retrospective review disclosed that approximately 10% of children had AT/RTs.[1] A Taiwanese study found that AT/RTs account for 26% of primitive or embryonal tumors in children younger than 3 years.[2] The Austrian Brain Tumor Registry, conducted between 1996 and 2006, confirmed that AT/RTs represent the sixth most common malignant brain tumor in 311 newly diagnosed children (6.1%), with a peak incidence during the first 2 years of life.[3] The incidence in older patients is unknown. In the Central Nervous System Atypical Teratoid/Rhabdoid Tumor Registry (AT/RT Registry), 12 of 42 patients (29%) were older than 36 months at the time of diagnosis.[4]

Clinical Behavior

Childhood AT/RT is a clinically aggressive tumor that primarily occurs in children younger than 3 years, but it also can occur in older children and has been reported in adults.[5,6] In about one-half of patients, the tumor is located in the posterior fossa, although it can occur anywhere in the CNS.[1]


Signs and symptoms related to the tumor are dependent on location. Young patients with posterior fossa tumors usually present with symptoms related to hydrocephalus such as early morning headaches, vomiting, and lethargy. They may also develop ataxia or regression of motor skills. Because AT/RT grows rapidly, patients typically have a fairly short history of progressive symptoms measured in days to weeks. Data from the AT/RT Registry suggest that approximately 20% of patients present with disseminated disease.[4] Dissemination is typically through leptomeningeal pathways seeding the spine and other areas of the brain. There are also reports of rare patients with synchronous renal rhabdoid and AT/RT.[7]


Prognostic factors that affect survival for AT/RTs are not fully delineated. Factors associated with a poor outcome include the following:

  • Germline mutation.[8]
  • Age younger than 2 years.[9]
  • Metastases at diagnosis.[9]
  • Subtotal resection.[10]

Most published information on outcomes for patients with AT/RT is based on small series and is retrospective in nature. Initial retrospective studies reported an average survival from diagnosis of only about 12 months.[1,5,10-12] In another retrospective report, 2-year overall survival was better for patients who underwent a gross-total resection than for those who had a subtotal tumor removal. However, the contribution of radiation therapy was less clear.[10] There are, however, reports of long-term survivors.[13] Notably, improved survival has been reported for those aged 3 years and older who received postoperative craniospinal irradiation and high-dose alkylator-based chemotherapy compared with those younger than 3 years with AT/RT. In this report, the incidence of leptomeningeal metastases was also higher in the infant group of patients.[14] In one prospective study of 25 children with AT/RT receiving intensive multimodal therapy, including radiation and intrathecal chemotherapy, the reported 2-year progression-free survival rate was 53%, and the overall survival rate was 70%.[15]

  1. Packer RJ, Biegel JA, Blaney S, et al.: Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol 24 (5): 337-42, 2002 Jun-Jul.  [PUBMED Abstract]

  2. Ho DM, Hsu CY, Wong TT, et al.: Atypical teratoid/rhabdoid tumor of the central nervous system: a comparative study with primitive neuroectodermal tumor/medulloblastoma. Acta Neuropathol 99 (5): 482-8, 2000.  [PUBMED Abstract]

  3. Woehrer A, Slavc I, Waldhoer T, et al.: Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006. Cancer 116 (24): 5725-32, 2010.  [PUBMED Abstract]

  4. Hilden JM, Meerbaum S, Burger P, et al.: Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol 22 (14): 2877-84, 2004.  [PUBMED Abstract]

  5. Burger PC, Yu IT, Tihan T, et al.: Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study. Am J Surg Pathol 22 (9): 1083-92, 1998.  [PUBMED Abstract]

  6. Lutterbach J, Liegibel J, Koch D, et al.: Atypical teratoid/rhabdoid tumors in adult patients: case report and review of the literature. J Neurooncol 52 (1): 49-56, 2001.  [PUBMED Abstract]

  7. Biegel JA, Fogelgren B, Wainwright LM, et al.: Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor. Genes Chromosomes Cancer 28 (1): 31-7, 2000.  [PUBMED Abstract]

  8. Kordes U, Gesk S, Frühwald MC, et al.: Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer 49 (2): 176-81, 2010.  [PUBMED Abstract]

  9. Dufour C, Beaugrand A, Le Deley MC, et al.: Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system: a multicenter study. Cancer 118 (15): 3812-21, 2012.  [PUBMED Abstract]

  10. Lafay-Cousin L, Hawkins C, Carret AS, et al.: Central nervous system atypical teratoid rhabdoid tumours: the Canadian Paediatric Brain Tumour Consortium experience. Eur J Cancer 48 (3): 353-9, 2012.  [PUBMED Abstract]

  11. Rorke LB, Packer RJ, Biegel JA: Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85 (1): 56-65, 1996.  [PUBMED Abstract]

  12. Athale UH, Duckworth J, Odame I, et al.: Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J Pediatr Hematol Oncol 31 (9): 651-63, 2009.  [PUBMED Abstract]

  13. Olson TA, Bayar E, Kosnik E, et al.: Successful treatment of disseminated central nervous system malignant rhabdoid tumor. J Pediatr Hematol Oncol 17 (1): 71-5, 1995.  [PUBMED Abstract]

  14. Tekautz TM, Fuller CE, Blaney S, et al.: Atypical teratoid/rhabdoid tumors (ATRT): improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy. J Clin Oncol 23 (7): 1491-9, 2005.  [PUBMED Abstract]

  15. Chi SN, Zimmerman MA, Yao X, et al.: Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol 27 (3): 385-9, 2009.  [PUBMED Abstract]