title: Atypical teratoid/rhabdoid tumor: short clinical description and insight into possible mechanism of the disease.
abstract: 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.
authors.affiliation: Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland.
authors.forename: B
authors.initials: B
authors.lastname: Bikowska
authors.forename: W
authors.initials: W
authors.lastname: Grajkowska
authors.forename: J
authors.initials: J
authors.lastname: Jóźwiak
mesh_terms: D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002454:Cell Differentiation / Q000235:genetics; D042002:Chromatin Assembly and Disassembly / Q000235:genetics; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D018335:Rhabdoid Tumor / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D000071796:SMARCB1 Protein; D013724:Teratoma / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors