Сравнительный анализ мутаций в гене ТР53 у больных ДВККЛ г.Новосибирска с данными, представленными в IARC TP53 mutation database

Abstract

Relevance. The information about the frequency and spectrum of TP53 gene mutations in Russian patients with diffuse large cell lymphoma (DLBCL) is not represented in the current version of the IARC TP53 mutation database. Purpose of the study was to compare the frequency and spectrum of TP53 gene mutations in Novosibirsk patients with DLBCL with the data presented in IARC TP53 mutation database. Material and methods. The TP53 gene sequence from 5 to 10 exons of 74 tumor tissue samples of patients with newly diagnosed DLBCL was analyzed by Sanger direct sequencing. Results. In 24.3% of patients were identified a mutation in the coding sequence of exons 5-8 TP53 gene. Multiple mutations had 4% of patients. The cases of loss of heterozygosity in the TP53 gene in DLBCL tumor tissue were revealed. The spectrum of single-nucleotide substitutions in the TP53 in the study group did not significantly differ from the data presented in IARC TP53 mutation database, but we observed differences in localization of the «hot spot» mutations. In the analyzed group of patients with DLBCL «hot spots» mutations were in codons 275, 155, 272 and 212. Conclusions. Comparative analysis of the results of sequencing gene TP53 in tumor tissue of patients with DLBCL in Novosibirsk with the data presented in IARC TP53 mutation database is revealed differences in the spectrum of mutations. The frequency of mutations in the gene TP53 in the study group are consistent with the literature dates.