Allelic imbalance in the TP53 gene in patients with diffuse large B-cell lymphoma carriers rs78378222

It is known that rs78378222 disrupt TP53 gene expression and reduce the level of apoptosis in cells under the influence of genotoxic factors. Cases of rs78378222 detection in a tumor tissue have been described in DLBCL patients previously. Objective: to study the frequency of rs78378222 TP53 gene in tumor tissue of patients with diffuse large cell lymphoma (DLBCL) in Novosibirsk. Material for the study were the DNA isolated by phenol-chloroform extraction using guanidine from paraffin blocks of tumor tissue biopsies from 92 patients with DLBCL. Rs78378222 genotyping was performed by PCR RFLP analysis. The presence of the rare allele C of rs78378222 was performed direct sequencing of Sanger. rs78378222 in DLBCL tumor tissue was detected in 9.8% of cases. In same of the samples the marker was detected in the homozygous state, indicating the loss of heterozygosity in the TP53 gene in tumor tissue diffuse DLBCL. Rare allele C rs78378222 are not met in the homozygous state in healthy tissues. Thus, the phenomenon of loss of heterozygosity in the TP53 gene in tumor tissue of patients carriers rs78378222 with DLBCL is a classic example of the “two-hit” mechanism of carcinogenesis.