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TP53 and EGFR Mutational Status in Thymoma: A Genetic Sequencing Study.
Syahruddin, Elisna; Zaini, Jamal; Sembiring, Ruth; Baginta, Romi; Fadhillah, Muhammad Rizqy; Noor, Dimas Ramadhian.
Afiliación
  • Syahruddin E; Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Indonesia/Persahabatan National Respiratory Referral Hospital, Jakarta, Indonesia.
  • Zaini J; Human Cancer Research Centre-IMERI-Faculty of Medicine Universitas Indonesia.
  • Sembiring R; Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Indonesia/Persahabatan National Respiratory Referral Hospital, Jakarta, Indonesia.
  • Baginta R; Pathology Unit, Persahabatan National Respiratory Referral Hospital, Jakarta, Indonesia.
  • Fadhillah MR; Pathology Unit, Persahabatan National Respiratory Referral Hospital, Jakarta, Indonesia.
  • Noor DR; Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Indonesia/Persahabatan National Respiratory Referral Hospital, Jakarta, Indonesia.
Asian Pac J Cancer Prev ; 23(1): 109-114, 2022 Jan 01.
Article en En | MEDLINE | ID: mdl-35092378
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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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Timoma / Neoplasias del Timo / Proteína p53 Supresora de Tumor Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Asian Pac J Cancer Prev Asunto de la revista: NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Indonesia

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Timoma / Neoplasias del Timo / Proteína p53 Supresora de Tumor Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Asian Pac J Cancer Prev Asunto de la revista: NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Indonesia