Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant tumor typically appearing in childhood. Differentiation of AT/RT from other brain tumors is extremely important because of grim prognosis and necessity of more aggressive treatment. On the other hand, investigation is essential for new therapeutic agents based on continuously developing knowledge of AT/RT development mechanisms. Most AT/RT tumors have been demonstrated to harbor a chromosome 22 mutation in the region of hSNF5/INI1 gene, whose protein product participates in chromatin remodeling. Although the presence of this mutation is rather undisputable, additional molecular pathways underlying AT/RT development are poorly understood. Current paper discusses current views on molecular pathophysiology of the tumor.
© 2010 The Author(s). European Journal of Neurology © 2010 EFNS.