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Abstract

Objectives: Mutations/deletions affecting the TP53 gene are considered an independent marker predicting a poor prognosis for patients with diffuse large B-cell lymphoma (DLBCL). A cohort within a genetically isolated population was investigated for p53 mutation/deletion status. Methods:Deoxyribonucleic acid (DNA) samples were extracted from 23 paraffin-embedded blocks obtained from DLBCL patients, and subjected to polymerase chain reaction (PCR) amplification and sequencing of exons 4–9 of the p53 gene. Results: While 35% of patients analysed displayed allelic deletions (P<0.01), immunohistochemical analysis revealed a mutation rate of 69.5%. It is noteworthy that the rate of p53 mutations/deletions in this small cohort was found to be higher than that previously reported in the literature. Interestingly, patients with p53 mutations displayed a better overall survival when compared to those without. The survival of patients treated with rituximab-containing combination chemotherapy was significantly better than those who did not receive rituximab (P <0.05). Furthermore, a modelling analysis of the deleted form of p53 revealed a huge structural change affecting the DNA-binding domain. Conclusion: The TP53 mutation/deletion status plays a role in mechanism(s) ruling the pathogenesis of DLBCL and may be useful for stratifying patients into distinct prognostic subsets.

Keywords

Mutations Gene Deletion Lymphoma B-Cell Paraffin Embedding Immunohistochemistry Oman.

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How to Cite
Tamimi, Y., Al-Harthy, S., Al-Haddabi, I., Al-Kindi, M., Babiker, H., Al-Moundhri, M., & Burney, I. (2014). The p53 Mutation/Deletion Profile in a Small Cohort of the Omani Population with Diffuse Large B-Cell Lymphoma. Sultan Qaboos University Medical Journal [SQUMJ], 14(1), 50–58. Retrieved from https://journals.squ.edu.om/index.php/squmj/article/view/1883