TP53 and EGFR Mutational Status in Thymoma: A Genetic Sequencing Study

Document Type : Research Articles

Authors

1 Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Indonesia/Persahabatan National Respiratory Referral Hospital, Jakarta, Indonesia.

2 Human Cancer Research Centre-IMERI-Faculty of Medicine Universitas Indonesia.

3 Pathology Unit, Persahabatan National Respiratory Referral Hospital, Jakarta, Indonesia.

Abstract

Background and objective: Thymoma is a rare malignant tumor that usually with an indolent presentation, which was falsely assumed to be benign previously. The tumor suppressor P53 (TP53) and EGFR gene mutate most frequently in human cancers. We tried to investigate the presence of TP53 and EGFR mutations among thymoma patients referred to an Indonesian referral respiratory hospital and to discuss its potential role in thymoma management and prognosis. Material and methods: Surgically resected tumor tissues were collected from thymoma patients and then underwent genomic analysis. PCR was performed on the extracted Paraffinized  DNA to amplify exon 6 of TP53 and exons 18, 19, and 21 of EGFR. The evaluation of mutational status was done using direct sequencing and sequence analysis of purified PCR products. Results: Among 27 collected samples, TP53 exon 6 mutation, namely  missense mutation and nonsense mutation, was observed in two samples (7.4%). EGFR exon 18 mutation, namely E709K and nonsense mutation, was found in 2 samples (7.4%). An intronic mutation in EGFR exon 19 (3.7%) and exon 21 (3.7%) was observed in one sample. Conclusion: TP53 and EGFR mutations were not most frequent, so it seems that these genes are not involved in the pathogenesis of thymoma in Indonesian patients. Nevertheless, we found two samples with a significant mutation in p53 and EGFR genes, suggesting further research on thymoma prognostification and targeted therapy.

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Asian Pacific Journal of Cancer Prevention
Volume 23, Issue 1
January 2022
Pages 109-114

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History

  • Receive Date: 23 June 2021
  • Revise Date: 26 September 2021
  • Accept Date: 17 January 2022

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