scholarly journals TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma

2021 ◽  
Vol 11 ◽  
Author(s):  
Silvia Giunco ◽  
Paolo Boscolo-Rizzo ◽  
Enrica Rampazzo ◽  
Giancarlo Tirelli ◽  
Lara Alessandrini ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Prognostic Significance ◽  
Nucleotide Polymorphism ◽  
Biological Behaviour ◽  
Single Nucleotide ◽  
Tert Promoter Mutations ◽  
Promoter Mutations ◽  
The Impact

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.

TERT promoter mutations are associated with poor prognosis in cutaneous squamous cell carcinoma

2019 ◽  
Vol 80 (3) ◽  
pp. 660-669.e6 ◽  
Author(s):  
Manuel António Campos ◽  
Sofia Macedo ◽  
Margarida Fernandes ◽  
Ana Pestana ◽  
Joana Pardal ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Poor Prognosis ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

scholarly journals High prevalence of TERT promoter mutations in primary squamous cell carcinoma of the urinary bladder

2016 ◽  
Vol 29 (5) ◽  
pp. 511-515 ◽  
Author(s):  
Morgan Cowan ◽  
Simeon Springer ◽  
Doreen Nguyen ◽  
Diana Taheri ◽  
Gunes Guner ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Urinary Bladder ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Primary Squamous Cell Carcinoma ◽  
Tert Promoter ◽  
High Prevalence ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

scholarly journals Prognostic significance of Cep55 in oral squamous cell carcinoma

2018 ◽  
Vol 3 ◽  
pp. 2057178X1878197
Author(s):  
L Surendra ◽  
Vanishri C Haragannavar ◽  
Roopa S Rao ◽  
Kavitha Prasad ◽  
SV Sowmya ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Oral Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Early Stage ◽  
Prognostic Significance ◽  
Clinical Staging ◽  
Biological Behaviour ◽  
Treatment Protocols ◽  
Mortality And Morbidity

Objective: Currently, oral squamous cell carcinoma (OSCC) is one of the most fatal cancers of all head and neck malignancies. Despite advancements in therapy, the mortality and morbidity remain high. Hence, it is essential to identify useful prognostic markers for high-risk individuals with OSCC to decide on treatment protocols. Centrosomal protein 55 ( Cep55), a regulator of the cell cycle, has been considered to play a role in carcinogenesis. Although there are numerous studies on its role in various other epithelial cancers such as breast, ovarian and lung cancers, its significance in the behaviour of OSCC is yet to be studied. The present study aimed to study Cep55 expression in OSCC and correlate with the tumour characteristics and patient survival. Materials and Methods: Forty pathologically diagnosed cases of OSCC were included in the study: 20 each of early and advanced OSCC cases. Formalin-fixed paraffin-embedded archival samples were used. The sections were immunohistochemically stained with Cep55 antibody. The expression levels of Cep55 were correlated with clinical parameters and disease outcome. Results: A higher expression of Cep55 was observed in advanced stage compared to early stage of OSCC. The Cep55 expression showed no significant relation with respect to clinical staging, pathological grading and site, except for tongue. Cep55 overexpression is significantly associated with poor survival. Conclusion: The present study suggests that Cep55 could play an important role in determining the biological behaviour and survival of OSCC patients independent of tumour staging and pathological grading. Thus, assessment of Cep55 expression could navigate the surgeons to plan an appropriate treatment.

scholarly journals TERT Promoter Mutations Are Frequent in Cutaneous Basal Cell Carcinoma and Squamous Cell Carcinoma

PLoS ONE ◽  
2013 ◽  
Vol 8 (11) ◽  
pp. e80354 ◽  
Author(s):  
Klaus G. Griewank ◽  
Rajmohan Murali ◽  
Bastian Schilling ◽  
Tobias Schimming ◽  
Inga Möller ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Basal Cell ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations
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