No abstract

Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or generalized enlargement of keratinized gingiva. HGF is a genetically heterogeneous disorder and can be transmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically. To date, four loci (2p22.1, 2p23.3-p22.3, 5q13-q22, and 11p15) have been mapped to autosomes and one gene (SOS1) has been associated with the HGF trait observed to segregate in a dominant inheritance pattern. Here we report 11 individuals with HGF from three unrelated families. Whole-exome sequencing (WES) revealed three different truncating mutations including two frameshifts and one nonsense variant in RE1-silencing transcription factor (REST) in the probands from all families and further genetic and genomic analyses confirmed the WES-identified findings. REST is a transcriptional repressor that is expressed throughout the body; it has different roles in different cellular contexts, such as oncogenic and tumor-suppressor functions and hematopoietic and cardiac differentiation. Here we show the consequences of germline final-exontruncating mutations in REST for organismal development and the association with the HGF phenotype.

We can suggest that the G allele of MCP-1 and 64I allele of CCR2 may be risk factors for OSCC.

Background: Carcinoma of the tongue is the most common intra-oral malignancy in Western countries. Incidence and mortality rates have increased in recent years, and survival has not improved. This study aimed to determine etiologic factors for tongue cancer with age-sex matched case-control data. Materials and Methods: 47 patients with carcinoma of the tongue referred to our oral medicine clinic between years 2005-2006 were analyzed and compared with control group data. The medical records , including family history of cancer, dental trauma, and history of abuse of alcohol and tobacco products was recorded for all subjects. Chi square comparison tests and linear regression analysis were performed using the SPSS program for statistics. Results: Patient and randomly selected control groups each consisted of 30 male and 17 female subjects with mean ages 53.2 (±12.6) and 52.6 (±11.5) years respectively. Smoking and alcohol abuse proportions were significantly higher in the patient group (p=0.0001, p<0.0001 respectively). Chronic mechanical trauma was observed in 44.7% of the patients and 17.0% of the control group (p=0.004). Similarly, family history of cancer of any type (for the first degree relatives) was found to be more common in the patient group (p=0.009). On regression analysis, alcohol abuse, family history of cancer, smoking, chronic mechanical traumas appeared as significant etiologic factors (p=0.0001). Conclusions: We believe that field cancerization may become evident in oral and oropharyngeal mucosa with multiple steps of molecular changes starting from the first sign of dysplasia with chronic exposure to etiological factors. Chronic trauma cases need particular attention to search for very early signs of cancer.

The efficacy of a topical gel with triester glycerol oxide in denture-related mucosal injuriesObjective: The efficacy of a topical gel with triester glycerol oxide for treating ulcerations related to new complete dentures was studied and compared with a placebo gel. Materials and methods: Fifty edentulous patients were enrolled in this double-blind clinical study. All subjects received new maxillary and mandibular complete dentures and were recalled 1, 3 and 7 days after denture placement. Twenty-five subjects received topical gel with triester glycerol oxide (TGO), and 25 subjects received topical gel without TGO. At each visit, pain and discomfort with the new dentures was assessed, and at the last visit, healing of ulcerations was also graded by a clinician. Subjects also graded the gel's taste, smell and ease of use. Results: Specifically, there was no statistically significant difference in ulcer healing (p > 0.05), ratings of smell, taste and ease of use (p > 0.05) or pain and discomfort scores (p > 0.05). However, within-group differences were observed in pain and discomfort scores between follow-up sessions (p = 0.01 for all comparisons). Conclusion: Clinically, TGO gel is not effective in the treatment of mucosal injuries occurring following placement of complete dentures.