TERT promoter mutation positive oral cavity carcinomas, a clinically and genetically distinct subgroup of head and neck squamous cell carcinomas

Yuki Saito; Hidenori Kage; Kenya Kobayashi; Masafumi Yoshida; Osamu Fukuoka; Koji Yamamura; Toshiyuki Mukai; Katsutoshi Oda; Tatsuya Yamasoba

doi:10.1002/hed.27540

TERT promoter mutation positive oral cavity carcinomas, a clinically and genetically distinct subgroup of head and neck squamous cell carcinomas

Head Neck. 2023 Dec;45(12):3107-3118. doi: 10.1002/hed.27540. Epub 2023 Oct 10.

Authors

Yuki Saito¹, Hidenori Kage², Kenya Kobayashi¹, Masafumi Yoshida³, Osamu Fukuoka¹, Koji Yamamura¹, Toshiyuki Mukai¹, Katsutoshi Oda², Tatsuya Yamasoba¹

Affiliations

¹ Departments of Otolaryngology, Head and Neck Surgery, University of Tokyo, Tokyo, Japan.
² Department of Integrative Genomics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
³ Department of Otolaryngology, Showa General Hospital, Tokyo, Japan.

PMID: 37815002
DOI: 10.1002/hed.27540

Abstract

Backgrounds: The importance of TERT promoter (pTERT) mutation of oral cavity squamous cell carcinoma (OCSCC) with clinical features and genetic alterations are not well recognized.

Methods: We retrospectively analyzed genetic data from multiple databases, including 260 cases from the C-CAT database, 407 cases from the MSK-MetTropism database, and 40 OCSCC datasets from in-house clinical samples.

Results: From C-CAT database, TP53 (66%), CDKN2A (51%), and pTERT (29%) were the most frequent mutations observed. pTERT mutations were more prevalent in OCSCC (63%), younger individuals, and women (46%), with lower rates of alcohol abuse and smoking and co-mutated with TP53, HRAS, and CASP8. MSK-MetTroposim data validated with the enrichment of pTERT mutations in OCSCC, among women and Asian individuals. In-house datasets OCSCC with pTERT mutation (50%) characterized by fewer recurrent neck metastases.

Conclusion: The study suggests that OCSCC with pTERT mutation represents a distinct subgroup with unique clinical and genetic characteristics.

Keywords: HRAS; TERT; genetic profile; young oral cancer.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Carcinoma, Squamous Cell* / genetics
Carcinoma, Squamous Cell* / pathology
Female
Head and Neck Neoplasms* / genetics
Humans
Mouth Neoplasms* / genetics
Mouth Neoplasms* / pathology
Mutation
Retrospective Studies
Squamous Cell Carcinoma of Head and Neck / genetics
Telomerase* / genetics

Substances

TERT protein, human
Telomerase