| Summary: | TP53 dysfunction is implicated in lymphomagenesis and disease progression. Information about the frequency and spectrum of TP53 mutations in the Russian pathients with diffuse large B-cell lymphoma (DLBCL) in the current version of the IARC TP53 Mutation Database R17 is not represented. The goal of this work was to study the frequency, spectrum and functional significance of TP53 mutations in Russian patients with DLBCL.
Material and methods: At the present time the pilot group of 14 patients were included in the study. Diagnosis was assessed according to the criteria of the WHO classification system. Genomic DNA was isolated from formalin-fixed, paraffin embedded tissue blocks. Direct sequence analysis of gene TP53 was performed according to the IARC protocol, 2010 update.
Results: In two patients were identified single nucleotide substitutions that are not described in the current version of the PubMed database. All of mutations occurred in the DNA-binding domain of p53. The nonsense mutation Arg196Ter was detected in one patient. Previously it was shown that formation of this premature stop codon might activate the nonsense-mediated RNA decay pathway. The second patient had two missense mutations – Leu130Phe and Arg156Cys. The first of them leads to p53 inactivation according to the analysis of the functional importance of amino acid substitutions using service PolyPhen-2.
Conclusion: We detected TP53 mutation in 14% cases. The mutational rate in our study is in good agreement with other studies where the frequency of the TP53 mutations in patients with DLBCL ranged mostly from 13% to 23%.
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