Amplification of 3q26.2, 5q14.3, 8q24.3, 8q22.3, and 14q32.33 Are Possible Common Genetic Alterations in Oral Cancer Patients

Bibliographic Details
Title: Amplification of 3q26.2, 5q14.3, 8q24.3, 8q22.3, and 14q32.33 Are Possible Common Genetic Alterations in Oral Cancer Patients
Authors: Melvin A. Ambele, Andre van Zyl, Michael S. Pepper, Marlene B. van Heerden, Willie F. P. van Heerden
Source: Frontiers in Oncology, Vol 10 (2020)
Publisher Information: Frontiers Media S.A., 2020.
Publication Year: 2020
Collection: LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Subject Terms: oral squamous cell carcinomas, head and neck cancer, genomic heterogeneity, intratumor clonal heterogeneity, intertumoral clonal diversity, OncoScan® FFPE assay, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
More Details: 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.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 2234-943X
Relation: https://www.frontiersin.org/article/10.3389/fonc.2020.00683/full; https://doaj.org/toc/2234-943X
DOI: 10.3389/fonc.2020.00683
Access URL: https://doaj.org/article/3e52f8dedcd94a2a9cea5203b0f48a45
Accession Number: edsdoj.3e52f8dedcd94a2a9cea5203b0f48a45
Database: Directory of Open Access Journals
More Details
ISSN:2234943X
DOI:10.3389/fonc.2020.00683
Published in:Frontiers in Oncology
Language:English