Атипичная тератоид-рабдоидная опухоль: обзор современных методов диагностики и терапии

Atypical teratoid-rhabdoid tumor (AT/RT) is a rare and aggressive malignant tumor of central nervous system (CNS), comprises approximetaly 1–2% of all pediatric brain tumors. Genetic feature of AT/RT are inactivating mutations in the DNA sequence of genes encoding the core elements of the chromatin remodeling complex SWI/SNF. The vast majority of rhabdoid tumors present with a loss of function in the SMARCB1 gene, which localizes on the long arm of 22 chromosomes (22q11.23). When the germ-line mutation occurs in the SMARCB1 gene, the syndrome is called RTPS1, and when the mutation occurs in the SMARCA4 gene it is called RTPS2. The standards of therapy for patients with AT/RT are not currently defined and the survival remains very low, but, after the introduction of modern multimodal therapy protocols, have slightly improved in the last years. The article presents an overview of existing methods for the diagnosis and treatment of AT/RT, as well as new approaches to the investigation of the molecular genetic causes of the clinical heterogeneity of this tumor.