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

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 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 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 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.

Metastatic squamous cell carcinoma of the paranasal sinuses from a primary squamous cell carcinoma of the urinary bladder

1989 ◽  
Vol 103 (6) ◽  
pp. 602-604 ◽  
Author(s):  
N. Kawai ◽  
K. Asakura ◽  
S. Sambe ◽  
A. Kataura ◽  
K. Enomoto
Keyword(s):  
Squamous Cell Carcinoma ◽  
Urinary Tract ◽  
Urinary Bladder ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Paranasal Sinuses ◽  
Renal Carcinoma ◽  
Urogenital Tract ◽  
Primary Squamous Cell Carcinoma ◽  
Metastatic Squamous Cell Carcinoma

AbstractMetastatic tumours of the paranasal sinuses from primary lesions of the urogenital tract are rare, with about 50 cases so far being reported in the literature. The most frequent primary lesions is a renal carcinoma. We have experienced a case of paransal sinus malignancy. There were no symptoms of urinary tract carcinoma preceding those in the paranasal sinuses. This case was later revealed at autopsy to be a metastasis from a diverticulum of the urinary bladder.

scholarly journals Primary Squamous Cell Carcinoma of the Urinary Bladder Presenting as Peritoneal Carcinomatosis

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Himisha Beltran ◽  
Brian D. Robinson ◽  
Scott T. Tagawa
Keyword(s):  
Squamous Cell Carcinoma ◽  
Urinary Bladder ◽  
Cell Carcinoma ◽  
Peritoneal Carcinomatosis ◽  
Squamous Cell ◽  
The United States ◽  
Primary Squamous Cell Carcinoma ◽  
Indwelling Catheter ◽  
Rare Malignancy ◽  
Tract Infections

We report an unusual case of a 78-year-old Caucasian female, who presented with peritoneal carcinomatosis and hypercalcemia, and was found to have a rapidly progressive primary squamous cell carcinoma of the urinary bladder. Squamous cell bladder carcinoma is a rare malignancy in the United States, accounting for just 1–3% of bladder tumors. Interestingly our patient lacked the established risk factors, including exposure to the parasiteSchistosoma haematobium, recurrent urinary tract infections, bladder calculi, radiation exposure, chronic indwelling catheter, neurogenic bladder, or tobacco abuse. Although hypercalcemia has been rarely described, an initial presentation of peritioneal carcinomatosis has not been previously reported.

Analysis of Primary Squamous Cell Carcinoma of Thyroid

2012 ◽  
Vol 55 (1) ◽  
pp. 26 ◽  
Author(s):  
Jeong-Seok Choi ◽  
Jae-Yol Lim ◽  
Young Chae Chu ◽  
Sun U. Song ◽  
Young-Mo Kim
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Primary Squamous Cell Carcinoma
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