TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma
ObjectiveTo date, no useful prognostic biomarker exists for patients with oral squamous cell carcinoma (OCSCC), a tumour with uncertain biological behaviour and subsequent unpredictable clinical course. We aim to investigate the prognostic significance of two recurrent somatic mutations (-124 C&...
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Frontiers Media S.A.
2021
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oai:doaj.org-article:1a7721d701e24121866b2335e5b0aee72021-11-10T05:35:33ZTERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma2234-943X10.3389/fonc.2021.782658https://doaj.org/article/1a7721d701e24121866b2335e5b0aee72021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fonc.2021.782658/fullhttps://doaj.org/toc/2234-943XObjectiveTo date, no useful prognostic biomarker exists for patients with oral squamous cell carcinoma (OCSCC), a tumour with uncertain biological behaviour and subsequent unpredictable clinical course. We aim to investigate the prognostic significance of two recurrent somatic mutations (-124 C>T and -146 C>T) within the promoter of telomerase reverse transcriptase (TERT) gene and the impact of TERT single nucleotide polymorphism (SNP) rs2853669 in patients surgically treated for OCSCC.MethodsThe genetic frequencies of rs2853669, -124 C>T and -146 C>T as well as the telomere length were investigated in 144 tumours and 57 normal adjacent mucosal (AM) specimens from OCSCC patients.ResultsForty-five tumours harboured TERT promoter mutations (31.3%), with -124 C>T and -146 C>T accounting for 64.4% and 35.6% of the alterations respectively. Patients with -124 C>T TERT promoter mutated tumours had the shortest telomeres in the AM (p=0.016) and showed higher risk of local recurrence (hazard ratio [HR]:2.75, p=0.0143), death (HR:2.71, p=0.0079) and disease progression (HR:2.71, p=0.0024) with the effect being potentiated by the co-occurrence of T/T genotype of rs2853669.Conclusion-124 C>T TERT promoter mutation as well as the T/T genotype of the rs2853669 SNP are attractive independent prognostic biomarkers in patients surgically treated for OCSCC, with the coexistence of these genetic variants showing a synergistic impact on the aggressiveness of the disease.Silvia GiuncoSilvia GiuncoPaolo Boscolo-RizzoPaolo Boscolo-RizzoEnrica RampazzoGiancarlo TirelliLara AlessandriniRoberto Di CarloMarco RossiPiero NicolaiAnna MenegaldoValentina CarraroMargherita TofanelliLuigia BandolinGiacomo SpinatoGiacomo SpinatoEnzo EmanuelliMonica MantovaniMarco StellinRossana BussaniAngelo Paolo Dei TosMaria GuidoMarzia MorelloJonathan FusseyGiovanni EspositoJerry PoleselAnita De RossiAnita De RossiFrontiers Media S.A.articleoral cavity squamous cell carcinoma (OCSCC)telomeraseTERT promoter mutationsSNP rs2853669telomereprognostic biomarkersNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENFrontiers in Oncology, Vol 11 (2021) |
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oral cavity squamous cell carcinoma (OCSCC) telomerase TERT promoter mutations SNP rs2853669 telomere prognostic biomarkers Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
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oral cavity squamous cell carcinoma (OCSCC) telomerase TERT promoter mutations SNP rs2853669 telomere prognostic biomarkers Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Silvia Giunco Silvia Giunco Paolo Boscolo-Rizzo Paolo Boscolo-Rizzo Enrica Rampazzo Giancarlo Tirelli Lara Alessandrini Roberto Di Carlo Marco Rossi Piero Nicolai Anna Menegaldo Valentina Carraro Margherita Tofanelli Luigia Bandolin Giacomo Spinato Giacomo Spinato Enzo Emanuelli Monica Mantovani Marco Stellin Rossana Bussani Angelo Paolo Dei Tos Maria Guido Marzia Morello Jonathan Fussey Giovanni Esposito Jerry Polesel Anita De Rossi Anita De Rossi TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma |
| description |
ObjectiveTo date, no useful prognostic biomarker exists for patients with oral squamous cell carcinoma (OCSCC), a tumour with uncertain biological behaviour and subsequent unpredictable clinical course. We aim to investigate the prognostic significance of two recurrent somatic mutations (-124 C>T and -146 C>T) within the promoter of telomerase reverse transcriptase (TERT) gene and the impact of TERT single nucleotide polymorphism (SNP) rs2853669 in patients surgically treated for OCSCC.MethodsThe genetic frequencies of rs2853669, -124 C>T and -146 C>T as well as the telomere length were investigated in 144 tumours and 57 normal adjacent mucosal (AM) specimens from OCSCC patients.ResultsForty-five tumours harboured TERT promoter mutations (31.3%), with -124 C>T and -146 C>T accounting for 64.4% and 35.6% of the alterations respectively. Patients with -124 C>T TERT promoter mutated tumours had the shortest telomeres in the AM (p=0.016) and showed higher risk of local recurrence (hazard ratio [HR]:2.75, p=0.0143), death (HR:2.71, p=0.0079) and disease progression (HR:2.71, p=0.0024) with the effect being potentiated by the co-occurrence of T/T genotype of rs2853669.Conclusion-124 C>T TERT promoter mutation as well as the T/T genotype of the rs2853669 SNP are attractive independent prognostic biomarkers in patients surgically treated for OCSCC, with the coexistence of these genetic variants showing a synergistic impact on the aggressiveness of the disease. |
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article |
| author |
Silvia Giunco Silvia Giunco Paolo Boscolo-Rizzo Paolo Boscolo-Rizzo Enrica Rampazzo Giancarlo Tirelli Lara Alessandrini Roberto Di Carlo Marco Rossi Piero Nicolai Anna Menegaldo Valentina Carraro Margherita Tofanelli Luigia Bandolin Giacomo Spinato Giacomo Spinato Enzo Emanuelli Monica Mantovani Marco Stellin Rossana Bussani Angelo Paolo Dei Tos Maria Guido Marzia Morello Jonathan Fussey Giovanni Esposito Jerry Polesel Anita De Rossi Anita De Rossi |
| author_facet |
Silvia Giunco Silvia Giunco Paolo Boscolo-Rizzo Paolo Boscolo-Rizzo Enrica Rampazzo Giancarlo Tirelli Lara Alessandrini Roberto Di Carlo Marco Rossi Piero Nicolai Anna Menegaldo Valentina Carraro Margherita Tofanelli Luigia Bandolin Giacomo Spinato Giacomo Spinato Enzo Emanuelli Monica Mantovani Marco Stellin Rossana Bussani Angelo Paolo Dei Tos Maria Guido Marzia Morello Jonathan Fussey Giovanni Esposito Jerry Polesel Anita De Rossi Anita De Rossi |
| author_sort |
Silvia Giunco |
| title |
TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma |
| title_short |
TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma |
| title_full |
TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma |
| title_fullStr |
TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma |
| title_full_unstemmed |
TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma |
| title_sort |
tert promoter mutations and rs2853669 polymorphism: useful markers for clinical outcome stratification of patients with oral cavity squamous cell carcinoma |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/1a7721d701e24121866b2335e5b0aee7 |
| work_keys_str_mv |
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