9508/3 Atypical teratoid/rhabdoid tumor


Tumours of the central nervous system
ICD-O-3 topography code: C70, C71 and C72
ICD10: C71

Atypical teratoid/rhabdoid tumor is a highly malignant, aggressive embryonal neoplasm predominantly manifesting in young children (median age at diagnosis, 1.4 years 1
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Woehrer A, Slavc I, Waldhoer T, Heinzl H, Zielonke N, Czech T, Benesch M, Hainfellner JA, Haberler C, (2010)
Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006.
Cancer :

), with preferentially infratentorial location (cerebellum). It is composed of rhabdoid cells, often combined with primitive neuroectodermal cells and tumour cells with divergent epithelial, mesenchymal, neuronal or glial differentiation 2
Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (Eds.)
WHO Classification of Tumours of the Central Nervous System.
4th Edition
International Agency for Research on Cancer: Lyon 2007

. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia; the prognosis is poor.
Mutational inactivation or loss of the INI1/hSNF5 gene at 22q11.2 is a diagnostic hallmark
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Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB (2002)
Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors.
Clin Cancer Res 8: 3461-7

. AT/RT can occur as part of the inherited rhabdoid tumour predisposition syndrome .