Genomic signature of oral squamous cell carcinomas from non-smoking non-drinking patients
Details
Publication Year 2021-03-01,Volume 13,Issue #5,Page 1029
Journal Title
Cancers
Abstract
Molecular alterations in 176 patients with oral squamous cell carcinomas (OSCC) were evaluated to delineate differences in non-smoking non-drinking (NSND) patients. Somatic mutations and DNA copy number variations (CNVs) in a 68-gene panel and human papilloma virus (HPV) status were interrogated using targeted next-generation sequencing. In the entire cohort, TP53 (60%) and CDKN2A (24%) were most frequently mutated, and the most common CNVs were EGFR amplifications (9%) and deletions of BRCA2 (5%) and CDKN2A (4%). Significant associations were found for TP53 mutation and nodal disease, lymphovascular invasion and extracapsular spread, CDKN2A mutation or deletion with advanced tumour stage, and EGFR amplification with perineural invasion and extracapsular spread. PIK3CA mutation, CDKN2A deletion, and EGFR amplification were associated with worse survival in univariate analyses (p < 0.05 for all comparisons). There were 59 NSND patients who tended to be female and older than patients who smoke and/or drink, and showed enrichment of CDKN2A mutations, EGFR amplifications, and BRCA2 deletions (p < 0.05 for all comparisons), with a younger subset showing higher mutation burden. HPV was detected in three OSCC patients and not associated with smoking and drinking habits. NSND OSCC exhibits distinct genomic profiles and further exploration to elucidate the molecular aetiology in these patients is warranted.
Publisher
MDPI
Keywords
Cdkn2a; DNA copy number; Egfr; Pik3ca; Tp53; alcohol; human papilloma virus; oral cancer; targeted sequencing; tobacco
Research Division(s)
Personalised Oncology
PubMed ID
33804510
Open Access at Publisher's Site
10.3390/cancers13051029
NHMRC Grants
NHMRC/1136119
Terms of Use/Rights Notice
Refer to copyright notice on published article.


Creation Date: 2021-04-28 08:15:50
Last Modified: 2021-05-06 09:02:01
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