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

Show simple item record Ambele, Melvin Anyasi Van Zyl, Andre Pepper, Michael Sean Van Heerden, Marlene B. Van Heerden, Willem Francois Petrus 2020-10-07T07:26:49Z 2020-10-07T07:26:49Z 2020-04-30
dc.description.abstract The 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.abstract ormal epithelium en_ZA
dc.description.department Immunology en_ZA
dc.description.department Oral Pathology and Oral Biology en_ZA
dc.description.librarian am2020 en_ZA
dc.description.sponsorship This 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.uri en_ZA
dc.identifier.citation Ambele 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.issn 2234-943X (online)
dc.identifier.other 10.3389/fonc.2020.00683
dc.language.iso en en_ZA
dc.publisher Frontiers Media en_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.subject Oral squamous cell carcinomas en_ZA
dc.subject Head and neck cancer en_ZA
dc.subject Genomic heterogeneity en_ZA
dc.subject Intratumor clonal heterogeneity en_ZA
dc.subject Intertumoral clonal diversity en_ZA
dc.subject OncoScan® FFPE assay en_ZA
dc.subject VELscope®Vx device en_ZA
dc.subject Tumor-adjacent dysplastic epithelium (TADE) en_ZA
dc.subject Clinically identical tumor en_ZA
dc.subject Normal epithelium en_ZA
dc.title Amplification of 3q26.2, 5q14.3, 8q24.3, 8q22.3, and 14q32.33 are possible common genetic Alterations in oral cancer patients en_ZA
dc.type Article en_ZA

Files in this item

This item appears in the following Collection(s)

Show simple item record