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Genetic characteristics of advanced oral tongue squamous cell carcinoma in young patients

 Sehui Kim  ;  Chung Lee  ;  Hyangmi Kim  ;  Sun Och Yoon 
 ORAL ONCOLOGY, Vol.144 : 106466, 2023-09 
Journal Title
Issue Date
Aged ; Carcinoma, Squamous Cell* / pathology ; Head and Neck Neoplasms* / genetics ; Homozygote ; Humans ; Prognosis ; Sequence Deletion ; Squamous Cell Carcinoma of Head and Neck / genetics ; Tongue Neoplasms* / pathology
Genetics ; Head and neck ; Oral cavity ; Squamous cell carcinoma ; TERT ; Tongue ; Young age
Objectives: We aimed to investigate genetic alterations in oral tongue squamous cell carcinoma (OTSCC) based on age and the clinical significance of these alterations in young OTSCC patients. Materials and Methods: We detected genetic alterations in 44 cases of advanced OTSCC through next-generation sequencing and analyzed and compared patients either younger or older than 45 years. Further analysis was conducted on a validation group of 96 OTSCC patients aged ≤ 45 years to examine the clinical and prognostic associations of TERT promoter (TERTp) mutations. Results: TP53 mutation was the most common genetic alteration in advanced OTSCC (88.6%), followed by TERTp mutation (59.1%), CDKN2A mutation (31.8%), FAT1 mutation (9.1%), NOTCH1 mutation (9.1%), EGFR amplification (18.2%), and CDKN2A homozygous deletion (4.5%). TERTp mutation was the only genetic alteration significantly enriched in young patients (81.3% in young versus 46.4% in older; P < 0.024). Within the validation group of young patients, TERTp mutation was identified in 30 cases (30/96, 31.3%) and tended to be related to both smoking and alcohol consumption (P = 0.072), higher stage (P = 0.002), more frequent perineural invasion (P = 0.094), and worse overall survival (P = 0.012) than wild type. Conclusion: Our findings suggest that TERTp mutation is more frequent in young patients with advanced OTSCC and is associated with worse clinical outcomes. Therefore, TERTp mutation may serve as a prognostic biomarker for OTSCC in young patients. The findings of this study may help in developing personalized treatment strategies for OTSCC based on age and genetic alterations. © 2023 The Authors
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1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Yoon, Sun Och(윤선옥) ORCID logo https://orcid.org/0000-0002-5115-1402
Lee, Chung(이청)
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