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 Telomeres and Telomerase in Cutaneous Squamous Cell Carcinoma

2019 ◽  
Vol 20 (6) ◽  
pp. 1333 ◽  
Author(s):  
Alessandra Ventura ◽  
Cristina Pellegrini ◽  
Ludovica Cardelli ◽  
Tea Rocco ◽  
Valeria Ciciarelli ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Telomerase Activity ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Telomere Biology ◽  
Promoter Mutations

The role of telomere biology and telomerase activation in skin cancers has been investigated in melanoma and basal cell carcinoma but limited evidence is available for cutaneous squamous cell carcinoma (cSCC). We will review the current knowledge on the role of telomere and telomerase pathway in cSCC pathogenesis. At the somatic level, both long and short telomere lengths have been described in cSCC. This telomere dichotomy is probably related to two different mechanisms of tumour initiation which determines two tumour subtypes. Telomere shortening is observed during the invasive progression from in situ forms of cSCC, such as Bowen’s disease (BD) and actinic keratosis (AK), to invasive cSCC. At the germline level, controversial results have been reported on the association between constitutive telomere length and risk of cSCC. Approximately 75–85% of cSCC tumours are characterized by a high level of telomerase activity. Telomerase activation has been also reported in AKs and BD and in sun-damaged skin, thus supporting the hypothesis that UV modulates telomerase activity in the skin. Activating TERT promoter mutations have been identified in 32–70% of cSCCs, with the majority showing the UV-signature. No significant correlation was observed between TERT promoter mutations and cSCC clinico-pathological features. However, TERT promoter mutations have been recently suggested to be independent predictors of an adverse outcome. The attention on telomere biology and telomerase activity in cSCC is increasing for the potential implications in the development of effective tools for prognostic assessment and of therapeutic strategies in patients with cutaneous cSCC.

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 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

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.

A review of terms used to define cutaneous squamous cell carcinoma with a poor prognosis

2020 ◽  
Vol 111 (4) ◽  
pp. 281-290
Author(s):  
J. Cañueto ◽  
A. Tejera-Vaquerizo ◽  
P. Redondo ◽  
R. Botella-Estrada ◽  
S. Puig ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Poor Prognosis ◽  
Cutaneous Squamous Cell Carcinoma

scholarly journals MAGEA3 Expression in Cutaneous Squamous Cell Carcinoma Is Associated with Advanced Tumor Stage and Poor Prognosis

2017 ◽  
Vol 137 (3) ◽  
pp. 775-778 ◽  
Author(s):  
Melody Abikhair ◽  
Nazanin Roudiani ◽  
Hiroshi Mitsui ◽  
James G. Krueger ◽  
Anna Pavlick ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Poor Prognosis ◽  
Tumor Stage ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Advanced Tumor Stage ◽  
Advanced Tumor

scholarly journals Over-Expression of CD200 Predicts Poor Prognosis in Cutaneous Squamous Cell Carcinoma

2016 ◽  
Vol 22 ◽  
pp. 1079-1084 ◽  
Author(s):  
Li Li ◽  
YanLi Tian ◽  
ChengFang Shi ◽  
Hua Zhang ◽  
Zhi Zhou
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Poor Prognosis ◽  
Cutaneous Squamous Cell Carcinoma ◽  
Over Expression

Overexpression of p300 correlates with poor prognosis in patients with cutaneous squamous cell carcinoma

2014 ◽  
Vol 172 (1) ◽  
pp. 111-119 ◽  
Author(s):  
M.-K. Chen ◽  
M.-Y. Cai ◽  
R.-Z. Luo ◽  
X. Tian ◽  
Q.-M. Liao ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Poor Prognosis ◽  
Cutaneous Squamous Cell Carcinoma
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