scholarly journals DNA Methylation Profiling Revealed Promoter Hypermethylation-induced Silencing of p16, DDAH2 and DUSP1 in Primary Oral Squamous Cell Carcinoma

2013 ◽  
Vol 10 (12) ◽  
pp. 1727-1739 ◽  
Author(s):  
Goot Heah Khor ◽  
Gabriele Ruth Anisah Froemming ◽  
Rosnah Binti Zain ◽  
Mannil Thomas Abraham ◽  
Effat Omar ◽  
...  
Oral Oncology ◽  
2014 ◽  
Vol 50 (4) ◽  
pp. 291-297 ◽  
Author(s):  
Fernando López ◽  
Teresa Sampedro ◽  
José L. Llorente ◽  
Francisco Domínguez ◽  
Mario Hermsen ◽  
...  

PLoS ONE ◽  
2019 ◽  
Vol 14 (12) ◽  
pp. e0223341
Author(s):  
David Hervás-Marín ◽  
Faatiemah Higgins ◽  
Onofre Sanmartín ◽  
Jose Antonio López-Guerrero ◽  
M. Carmen Bañó ◽  
...  

Cancers ◽  
2021 ◽  
Vol 13 (14) ◽  
pp. 3580
Author(s):  
Shatavisha Dasgupta ◽  
Patricia C. Ewing-Graham ◽  
Sigrid M. A. Swagemakers ◽  
Thierry P. P. van den Bosch ◽  
Peggy N. Atmodimedjo ◽  
...  

DNA methylation is the most widely studied mechanism of epigenetic modification, which can influence gene expression without alterations in DNA sequences. Aberrations in DNA methylation are known to play a role in carcinogenesis, and methylation profiling has enabled the identification of biomarkers of potential clinical interest for several cancers. For vulvar squamous cell carcinoma (VSCC), however, methylation profiling remains an under-studied area. We sought to identify differentially methylated genes (DMGs) in VSCC, by performing Infinium MethylationEPIC BeadChip (Illumina) array sequencing, on a set of primary VSCC (n = 18), and normal vulvar tissue from women with no history of vulvar (pre)malignancies (n = 6). Using a false-discovery rate of 0.05, beta-difference (Δβ) of ± 0.5, and CpG-island probes as cut-offs, 199 DMGs (195 hyper-methylated, 4 hypo-methylated) were identified for VSCC. Most of the hyper-methylated genes were found to be involved in transcription regulator activity, indicating that disruption of this process plays a vital role in VSCC development. The majority of VSCCs harbored amplifications of chromosomes 3, 8, and 9. We identified a set of DMGs in this exploratory, hypothesis-generating study, which we hope will facilitate epigenetic profiling of VSCCs. Prognostic relevance of these DMGs deserves further exploration in larger cohorts of VSCC and its precursor lesions.


Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2915
Author(s):  
Bruna Pereira Sorroche ◽  
Fazlur Rahman Talukdar ◽  
Sheila Coelho Soares Lima ◽  
Matias Eliseo Melendez ◽  
Ana Carolina de Carvalho ◽  
...  

The identification of molecular markers in negative surgical margins of oral squamous cell carcinoma (OSCC) might help in identifying residual molecular aberrations, and potentially improve the prediction of prognosis. We performed an Infinium MethylationEPIC BeadChip array on 32 negative surgical margins stratified based on the status of tumor recurrence in order to identify recurrence-specific aberrant DNA methylation (DNAme) markers. We identified 2512 recurrence-associated Differentially Methylated Positions (DMPs) and 392 Differentially Methylated Regions (DMRs) which were enriched in cell signaling and cancer-related pathways. A set of 14-CpG markers was able to discriminate recurrent and non-recurrent cases with high specificity and sensitivity rates (AUC 0.98, p = 3 × 10−6; CI: 0.95–1). A risk score based on the 14-CpG marker panel was applied, with cases classified within higher risk scores exhibiting poorer survival. The results were replicated using tumor-adjacent normal HNSCC samples from The Cancer Genome Atlas (TCGA). We identified residual DNAme aberrations in the negative surgical margins of OSCC patients, which could be informative for patient management by improving therapeutic intervention. This study proposes a novel DNAme-based 14-CpG marker panel as a promising predictor for tumor recurrence, which might contribute to improved decision-making for the personalized treatment of OSCC cases.


2019 ◽  
Vol 28 (2) ◽  
pp. 188-195
Author(s):  
Davide Bartolomeo Gissi ◽  
Andrea Gabusi ◽  
Achille Tarsitano ◽  
Roberto Rossi ◽  
Tiziana Balbi ◽  
...  

We analyzed the genetic and epigenetic profiles of an oral squamous cell carcinoma affecting a 41-year-old pregnant female. The patient presented with an oral mass located at the hard and soft palate with bone involvement and lymph node metastases (T4N1M0). She had been treated with multimodal radiotherapy and chemotherapy, and she is currently alive with no evidence of disease 8 years after treatment. DNA methylation and DNA mutation analyses were used to analyze multiple samples from the tumor mass and from the non-neoplastic mucosa to verify tumor heterogeneity. Genetic and epigenetic analyses revealed the presence of one shared TP53 driver mutation with the same DNA methylation profile in each of the 3 areas of the tumor mass; only 2 additional passenger mutations were detected, suggesting a simple clonal homogeneous carcinoma, which usually is associated with low-level aggressive behavior. Additionally, no genetic or epigenetic alteration in the non-neoplastic oral mucosa was detected, demonstrating the absence of field cancerization. The low aggressiveness of the lesion was confirmed by the patient being free of disease at a long-term follow-up examination. These data suggest a different molecular transformation pathway in pregnancy-related oral squamous cell carcinomas, providing new perspectives for further investigation.


2013 ◽  
Vol 18 (3) ◽  
pp. 801-808 ◽  
Author(s):  
Yung-Kai Huang ◽  
Bou-Yu Peng ◽  
Chia-Yo Wu ◽  
Chien-Tien Su ◽  
Hui-Chen Wang ◽  
...  

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