Amplification of 3q26.2, 5q14.3, 8q24.3, 8q22.3, and 14q32.33 are possible common genetic Alterations in oral cancer patients

dc.contributor.authorAmbele, Melvin Anyasi
dc.contributor.authorVan Zyl, Andre
dc.contributor.authorPepper, Michael Sean
dc.contributor.authorVan Heerden, Marlene B.
dc.contributor.authorVan Heerden, Willem Francois Petrus
dc.contributor.emailmelvin.ambele@up.ac.zaen_ZA
dc.date.accessioned2020-10-07T07:26:49Z
dc.date.available2020-10-07T07:26:49Z
dc.date.issued2020-04-30
dc.description.abstractThe lack of clinical biomarkers for head and neck cancer subtypes limits early diagnosis and monitoring of disease progression. This study investigates genetic alterations in clinically identical tumor, tumor-adjacent dysplastic epithelium (TADE) and normal epithelium (NE) in five oral cancer patients to identify differences and commonalities between oral cancer, TADE and NE. A VELscope®Vx device was used to identify TADE and NE surrounding a clinical tumor for analysis of genetic alterations using the OncoScan® assay. One of the tumor samples examined was an “M” class tumor with a high confidence BRAF:p.G469A:c.1406G>C somatic mutation, which is the first to be reported in oral cancer. Another tumor showed mosaicism in genetic alterations, indicating the presence of multiple clones. Overall, each patient’s tumor, TADE and NE showed a distinct genetic profile which indicates intertumoral clonal/genetic diversity. Interestingly, four tumors showed gain of 3q26.2, 5q14.3, 8q24.3, 8q22.3, 14q32.33 and loss/LOH in 9p21.3 while all TADE had LOH on 22q11.23. In addition, some genetic alterations progressed from NE through TADE into tumor in individual patients. Furthermore, no molecular event was identified that is common to all NE and/or TADE that progressed into tumor. This pilot study demonstrates the presence of genetic heterogeneity in oral tumorigenesis, and suggests that there might exist some common genetic alterations between tumors and TADE. However, this observation would need to be further investigated and validated in a larger cohort of oral cancer patients for its potential role in oral tumorigenesis.en_ZA
dc.description.abstractormal epitheliumen_ZA
dc.description.departmentImmunologyen_ZA
dc.description.departmentOral Pathology and Oral Biologyen_ZA
dc.description.librarianam2020en_ZA
dc.description.sponsorshipThis work was funded by the Cancer Association of South Africa (WFPvH) and the South African Medical Research Council (MSP—Flagship and Extramural Stem Cell Unit).en_ZA
dc.description.urihttp://www.frontiersin.org/Oncologyen_ZA
dc.identifier.citationAmbele MA, van Zyl A, Pepper MS, van Heerden MB and van Heerden WFP (2020) Amplification of 3q26.2, 5q14.3, 8q24.3, 8q22.3, and 14q32.33 Are Possible Common Genetic Alterations in Oral Cancer Patients. Front. iers in Oncology 10:683. DOI: 10.3389/fonc.2020.00683.en_ZA
dc.identifier.issn2234-943X (online)
dc.identifier.other10.3389/fonc.2020.00683
dc.identifier.urihttp://hdl.handle.net/2263/76374
dc.language.isoenen_ZA
dc.publisherFrontiers Mediaen_ZA
dc.rights© 2020 Ambele, van Zyl, Pepper, van Heerden and van Heerden. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).en_ZA
dc.subjectOral squamous cell carcinomasen_ZA
dc.subjectHead and neck canceren_ZA
dc.subjectGenomic heterogeneityen_ZA
dc.subjectIntratumor clonal heterogeneityen_ZA
dc.subjectIntertumoral clonal diversityen_ZA
dc.subjectOncoScan® FFPE assayen_ZA
dc.subjectVELscope®Vx deviceen_ZA
dc.subjectTumor-adjacent dysplastic epithelium (TADE)en_ZA
dc.subjectClinically identical tumoren_ZA
dc.subjectNormal epitheliumen_ZA
dc.titleAmplification of 3q26.2, 5q14.3, 8q24.3, 8q22.3, and 14q32.33 are possible common genetic Alterations in oral cancer patientsen_ZA
dc.typeArticleen_ZA

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