Assessing alpha-tocopherol levels in patients with keratocystic odontogenic tumor: A cross-sectional study.

AIMS AND OBJECTIVES: A keratocystic odontogenic tumour (KCOT) is a benign uni- or multicystic, intraosseous tumour of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. Various studies in hamsters showed that, alpha-Tocopherol, which is an active biological form of Vitamin E, is a potent antioxidant known to inhibit tumour formation and also regression of established tumours. So, the aim of the present pilot study was to assess the levels of Alpha-Tocopherol(Vitamin E) in Patients with KCOT and compare them with Vitamin E levels in normal healthy individuals. MATERIALS AND METHODS: A sample of 20 individuals were taken and Alpha Tocopherol levels in serum were assessed. Independent sample t test was used to analyse the data. Serum Vitamin-E levels were found to be decreased in KCOT cases. RESULTS: Mean Vitamin-E level was found to be decreased (mean + S.D. = 10,549.34 +/- 2494.21 ng/mL) as compared to healthy controls (mean + S.D. = 13,982.42 +/- 2178.02 ng/mL). The reduction in serum vitamin E level was statistically significant (P < 0.05). CONCLUSION: The reduction in Vitamin E levels in KCOT patients might be suggestive of the possible interrelation between Vitamin E and KCOT invivo. Also, increase in intake of Vitamin E might help in reducing the risk of recurrence in KCOT by reducing the dysregulation of Cyclin D1 and Down-Regulation of mutant p53.

Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis. The gene responsible for NBCCS is PTCH1, encoding a receptor for the secreted protein, sonic hedgehog. Recently, a Chinese family with NBCCS carrying a missense mutation in PTCH2, a close homolog of PTCH1, was reported. However, the pathological significance of missense mutations should be discussed cautiously. Here, we report a 13-year-old girl diagnosed with NBCCS based on multiple keratocystic odontogenic tumors and rib anomalies carrying a frameshift mutation in the PTCH2 gene (c.1172_1173delCT). Considering the deleterious nature of the frameshift mutation, our study further confirmed a causative role for the PTCH2 mutation in NBCCS. The absence of typical phenotypes in this case such as palmar/plantar pits, macrocephaly, falx calcification, hypertelorism and coarse face, together with previously reported cases, suggested that individuals with NBCCS carrying a PTCH2 mutation may have a milder phenotype than those with a PTCH1 mutation.

Gene polymorphism of interleukin-1 alpha and beta in keratocystic odontogenic tumors.

AIM AND BACKGROUND: Odontogenic keratocysts have a different growth mechanism and biologic behavior in comparison with more common dentigerous and radicular cysts. It was reclassified as keratocystic odontogenic tumor (KCOT). The proliferative activity of the epithelial cells of KCOT has a close relationship with tissue levels of interleukin-1 (IL-1). Moreover, IL-1 increases the expression of several matrix metalloproteinases in the fibroblasts of adjacent stroma and activates the osteoclastogenesis process. So it plays an important role in the activity, spread, and local aggressiveness of this tumor. Therefore, it seems that the gene polymorphism of the cytokines of the IL-1 family is influential in the pathogenesis of KCOT and the patients' susceptibility to disease. METHOD: A total of 38 blood samples of patients suffering from KCOT and 150 blood samples of healthy patients were assessed using PCR-SSP. The blood samples were assessed for the following polymorphisms: interleukin-1 alpha (-889) and interleukin-1 beta (-511). Following up the patients, we found six recurrent and one syndromic cases. FINDINGS: By comparing the case and control groups, we observed the significant dominance of allele T over C, and genotype TT over CC and CT in IL-1α, although no significant difference was seen in the allele frequency and genotypes regarding IL-1ß. CONCLUSION: The function of IL-1α has a significant relationship with KCOT. Its effective genotype associated with pathogenesis, growth, local invasion, and recurrence is TT.

Ameloblastic carcinoma ex ameloblastoma of the mandible with malignancy-associated hypercalcemia.

Ameloblastoma is a rare, locally destructive, benign neoplasm of the jawbones, which arises from epithelium derived from the epithelial components of the developing tooth. Ameloblastic carcinoma is the term used to designate any ameloblastoma in which there is histologic evidence of malignancy in the primary tumor, regardless of whether it has metastasized. Most ameloblastic carcinomas are presumed to have arisen de novo, with few cases of malignant transformation of ameloblastoma being apparent. Hypercalcemia is the most common metabolic complication of malignancy. Although malignancy-associated hypercalcemia is often reported in association with other malignancies, it is exceedingly unusual in association with ameloblastoma, malignant ameloblastoma, or ameloblastic carcinoma. We describe a patient with multiple recurrences of ameloblastoma, with subsequent malignant transformation presenting with malignancy-associated hypercalcemia.

Relation of blood group carbohydrates to differentiation patterns of normal and pathological odontogenic epithelium.

The distribution of epithelial cell surface antigens was studied in normal odontogenic epithelium from 20 fetuses and in odontogenic epithelium from 15 ameloblastomas, 16 odontogenic keratocysts, 15 follicular and 15 radicular cysts. The cell surface carbohydrates were detected using antibodies with reactivity for the blood group antigens A, B, H type 2 (A and B precursor) and N-acetyllactosamine (N-lac, H type 2 precursor) by an immunofluorescence technique. The expression of the blood group carbohydrates differed considerably in normal fetal odontogenic epithelium from that in ameloblastomas and odontogenic cysts. The A, B and H type 2 antigens were demonstrated in odontogenic keratocysts and in follicular and radicular cysts. Expression of the blood group carbohydrates was similar in follicular and radicular cysts but differed from that seen in odontogenic keratocysts by the failure to detect N-lac in the latter. The antigens A, B, H type 2 and N-lac were not expressed in any of the ameloblastomas including types with palisading of basal cells and polarization of basal cell nuclei and types with a plexiform pattern with cuboidal or polyhedral shaped peripheral cells. The findings indicate that epithelium of ameloblastomas can be distinguished from odontogenic cyst epithelium by differences in expression of cell surface carbohydrates with blood group specificity.