Клинические случаи синдрома Ли-Фраумени в детской онкологической практике

The article describes three cases of Li-Fraumeni syndrome in children with rare brain tumor and multiple primary tumors. We present various molecular diagnostics methods for the syndrome associated with germline mutation in TP53 gene. We have analyzed the heterogeneous nature of clinical manifestations of the syndrome, relationship of the syndrome to the types of mutations in the TP53 gene, the monitoring of  individuals , who carrying the mutant TP53 genotype. By hereditary features of Li-Fraumeni syndrome, targeted therapeutic approaches to protein p53 modification are presented.