Table 5.
Summary of studies evaluating the association between head and neck tumors with TERT promoter mutations.
| Study | Tumor Site | Total TERT promoter mutation % (n) | C228T % (n) | C250T % (n) | Results | Method | Country |
|---|---|---|---|---|---|---|---|
| (19) | Head and neck | 17.1 (12/70) | 14.8 (10/70) | 2.8 (21/70) | TERT mutations were correlated to tongue sub-site (p < 0.0001) | PCR and Sanger sequencing | USA |
| (34) | Larynx | 27.0 (64/235) | 3.4 (8/235) | 23.8 (56/235) | Laryngeal TERT mutations were significantly associated with poor survival (p = 0.03). The cases with TERT promoter mutations had significantly shorter survival than those with wild-type TERT (72.2 vs. 78.2 months, p = 0.04). Also, TERT C250T mutation was significantly associated with worse survival (69.2 vs. 78.2 months, p = 0.01) | Pyrosequencing | China |
| (35) | Head and neck | 16.6 (2/12) | 16.6 (2/12) | 0.0 (0/12) | No significant correlation was observed | PCR and Sanger sequencing | USA |
| (36) | Oral cavity | 31.7 (13/41) | 22.0 (9/13) | 9.7 (4/13) | No significant correlation was observed | PCR and Sanger sequencing | India |
| (37) | Oral cavity | 64.7 (130/201) | 51.7 (104/201) | 12.9 (26/201) | The C228T mutation in oral cavity was associated with betel nut chewing (p = 0.05) | PCR and Sanger sequencing | Taiwan |
| (13) | Head and neck | 63.93 (39/61) | 63.93 (39/61) | The C250T mutation in HNSCC indicated an association between the frequency of the homozygous mutation (T/T) and the grade of the tumor (T1 = 27%; T2 = 36%; T3 = 35%; T4 = 46%; P ≤ 0.0001). Also, C250T mutation was identified in 40% of patients with mouth cancer (P = 0.001) | High resolution melting using qPCR | Poland | |
| (18) | Head and neck | 28.6 (8/28) | No significant correlation was observed | Next-generation sequencing | USA | ||
| (38) | Oral Cavity | 60.0 (9/15) | 20.0 (3/15) | 13.3 (2/15) | No significant correlation was observed | PCR and Sanger sequencing | Italy |
| Oropharynx | 0.0 (0/15) | 0.0 (0/15) | 0.0 (0/15) | ||||
| (39) | Oral Cavity | 70.0 (14/20) | 55.0 (11/20) | 15.0 (3/20) | Frequency of TERT promoter mutation was higher in the metastasis than in the primary tumors (p < 0.0001) | MSK-IMPACT assay next-generation sequencing | USA |
| Oropharynx | 5.5 (1/18) | 5.5 (1/18) | 0.0 (0/18) | ||||
| Hypopharynx | 0.0 (0/2) | 0.0 (0/2) | 0.0 (0/2) | ||||
| Larynx | 14.3 (1/7) | 14.3 (1/7) | 0.0 (0/7) | ||||
| (40) | Oral Cavity Pharynx Larynx |
9.90 (10/101) 0.99 (1/101) 0.99 (1/101) |
No significant difference in OS emerged for mutational status, although 5-year OS was higher in patients with TERT mutations than in those without mutations. TERT levels were not associated with TERT mutations | PCR and Sanger sequencing | Italy | ||
| Present study | Oral Cavity Larynx Pharynx |
31.9 (22/69) 5.6 (1/11) 16.7 (1/8) |
7.2 (5/69) 0 (0/11) 16.7 (1/8) |
24.6 (17/69) 5.6 (1/11) 0 (0/8) |
C250T TERT promoter mutation was associated with alcohol consumption (p = 0.032), whereas C228T was not associated with alcohol consumption (p = 0.035). The presence of C228T mutation impacted patient outcome, with a significant decrease in disease-free survival (20.0 vs. 63.0%, p = 0.017) and in overall survival (16.7 vs. 45.1%, p = 0.017) | Pyrosequencing | Brazil |