The classification of ameloblastoma in multicystic or unicystic variants is associated with its clinical behaviour. Recently, BRAF and SMO mutations have been reported in ameloblastomas. However, it is not clear if such mutations are shared by the multi- and unicystic variants of ameloblastoma or by odontogenic carcinomas. We assessed BRAFV600E and SMOF412E in multicystic, unicystic and desmoplastic ameloblastomas. In addition, we investigated whether the BRAFV600E mutation occurs in odontogenic carcinomas. A total of 28 formalin-fixed paraffin-embedded samples, comprising 17 ameloblastomas and 11 odontogenic carcinomas, were included. The BRAFV600E mutation was assessed by real-time PCR with a specific TaqMan probe and confirmed by Sanger sequencing. The SMOF412E mutation was assessed by Sanger sequencing. Fourteen out of 17 (82 %) ameloblastomas showed the BRAFV600E mutation, specifically, 5/6 (83 %) unicystic, 7/9 (78 %) multicystic and 2/2 desmoplastic ameloblastomas. BRAFV600E mutation was detected in 4/11 (36 %) malignant tumours, specifically, 3/8 (38 %) ameloblastic carcinomas and 1/1 clear cell odontogenic carcinoma, while the two ghost cell odontogenic carcinomas did not harbour this mutation. The SMOF412E mutation was not detected in ameloblastoma. The BRAFV600E-activating mutation is a common event in ameloblastomas, occurring regardless of site or histological type. This mutation is also detected in odontogenic carcinomas. SMO somatic mutation is a secondary genetic event in the ameloblastoma pathogenesis. Our findings support the possibility for personalised, molecular-targeted therapy for ameloblastomas and odontogenic carcinomas harbouring the BRAFV600E mutation.
Paracoccidioidomycosis (PCM) is a rare fungal infection in the world, but endemic and acquired exclusively in Latin America, with the highest prevalence in South America and Brazil, particularly. Changes in oral cavity are common and constitute the first clinical manifestation in many patients. The aim of this study was to describe the prevalence of oral PCM and analyse the profile of the disease and patients. Retrospective research, consisting of information present in the medical records in the period 1998-2015, whose histopathological diagnosis was oral PCM. Fifty-five oral PCM cases were confirmed. Of these patients, 90.9% were males and 9.1% were females. The average age was 49.66 years and the most reported occupation was rural workers. The painful symptomatology was present in 61.82% of patients. Erythematous lesions were predominant in 73% of them. In single lesions (22 cases), the most common locations were jugal mucosa and tongue. In multiple involvement (30 cases), the most affected regions were lips, jugal mucosa and alveolar ridge. Epidemiology of PCM, was similar to several other studies, especially in Brazil. This is the most important fungal infection in Latin America and the recognition of oral lesions is extremely important, as is often the first and in many cases the only manifestation of the disease.
BackgroundAn ameloblastoma is a benign odontogenic neoplasm with aggressive behaviour and high recurrence rates. The increased expression of matrix metalloproteinases (MMPs) has been reported in ameloblastomas. In the present study, we hypothesised that epigenetic alterations may regulate MMP expression in ameloblastomas.MethodsWe investigated the methylation status of the genes MMP-2 and MMP-9 in addition to mRNA transcription and protein expression in ameloblastomas. Methylation analysis was performed by both methylation-specific polymerase chain reaction (MSP-PCR) and restriction enzyme digestion to evaluate the methylation profile of MMP-2 and MMP-9 in 12 ameloblastoma samples and 12 healthy gingiva fragments, which were included as controls. Furthermore, we investigated the transcription levels of the genes by quantitative reverse-transcription PCR (qRT-PCR). Zymography was performed to verify protein expression in ameloblastomas.ResultsThe ameloblastomas showed a high frequency of unmethylated MMP-2 and MMP-9, whereas the healthy gingival samples presented a sharp prevalence of methylated MMPs. Higher expression levels of MMP-9 were found in ameloblastomas compared to healthy gingiva. However, no significant differences in the MMP-2 mRNA expression between groups was found. All ameloblastomas showed positive expression of MMP-2 and MMP-9 proteins.ConclusionsOur findings suggest that expression of MMP-9 is increased in ameloblastomas and is possibly modulated by unmethylation of the gene.
Odontogenic tumors composed of two or more distinct types of lesions are unusual. In this paper, a case of an odontogenic lesion characterized by simultaneous occurrence of areas of calcifying odontogenic cyst (COC) and orthokeratinized odontogenic cyst (OOC) is described. The lesion was asymptomatic and presented at the radiographic examination as a unilocular well-delimited radiolucency extending from left incisor to right premolar area in the mandible. To date, this is the first report of COC associated with an OOC.
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