Atypical teratoid-rhabdoid tumors: molecular genetics feutures, perspectives of treatment. Review of literature

Abstract

Atypical teratoid rhabdoid tumors (ATRT) are the most common malignant embryonal tumors of central nervous system in young children. Metastatic stage reveals in 20–30 % cases at the diagnosis. ATRT is a primarily monogenic disease characterized by the biallelic mutation of the SMARCB1, more rarely SMARCA4 genes. The survival rate of ATRT’s patients is poor. Multimodal treatment approaches including surgery, conventional dose chemotherapy with intrathecal therapy, high-dose chemotherapy with autologous stem cell resсue and radiotherapy have shown significant potential for improving outcomes. Recent epigenetic and transcriptional studies conducted by two independent research groups have identified three subgroups of ATRT. It has different molecular characteristics with appropriate therapeutic sensitivity. Further study of molecular types, inclusion of biologically targeted agents may be a promising strategy for optimizing treatment in future studies.