Whole-exome sequencing and copy number alterations analysis in a case of expansive florid cemento-osseous dysplasia.

Unlabelled: Whole-exome sequencing (WES) analysis of an expansive case florid cemento-osseus dysplasia were reported for the first time. Also, the new potential candidate genes were reported to expand our knowledge about their molecular pathogenesis.

Abstract: We report a case of expansive florid cemento-osseus dysplasia in a 32-year-old female patient who presented an expansive tumoral lesion in the anterior mandible.

Tenosynovial giant cell tumor: case report and molecular investigation.

Tenosynovial giant cell tumor is a benign neoplasm arising from the synovium of joints, including the temporomandibular joint (TMJ). Despite its benign nature, these tumors may exhibit aggressive behavior. A 57-year-old woman with a swollen, hardened area in the left TMJ was referred to the university´s clinic.

Comprehensive Genomic Analysis of Cemento-Ossifying Fibroma.

Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure.

A conservative approach for unicystic ameloblastoma: Retrospective clinic-pathologic analysis of 12 cases.

Background: Unicystic ameloblastoma is an encapsulated odontogenic neoplasm with a single cyst cavity. The conservative or aggressive surgical approaches used to treat the tumor directly affect recurrence rates. However, there is a lack of a standard protocol that can guide its management.

A new TRPV4 mutation in a case of multiple central giant cell granulomas of the jaws.

Sporadic central giant cell granulomas of the jaws (GCGJ) are often solitary lesions, characterized by KRAS, FGFR1, and TRPV4 somatic mutations. Multifocal lesions may occur and are associated with hyperparathyroidism or underlying syndromes such as cherubism, which is marked by SH3BP2 mutations, and RASopathies, which are caused by mutations in the FGFR-RAS-RAF-MEK-ERK signaling cascade. The diagnosis of multiple GCGJ can be challenging.

Unicystic adenoid ameloblastoma: A new variant?

Adenoid ameloblastoma with dentinoid is an uncommon benign odontogenic neoplasm, and its unicystic variant seems to be even rarer. A 34-year-old man was referred for evaluation of an asymptomatic swelling in the posterior maxilla. Intraoral examination showed an expansive lesion, soft to palpation, covered by a normal color mucosa.

BRAF p.V600E status in epithelial areas of ameloblastoma with different histological aspects: Implications to the clinical practice.

Background: BRAF p.V600E is reported in up to 80% of ameloblastomas. Despite the high frequency, the presence of this mutation in different histopathological areas of the tumour has not been investigated.

Glandular Odontogenic Cyst-A Case Series.

The glandular odontogenic cyst (GOC) is an uncommon jawbone cyst with a challenging diagnosis because of the presence of several clinical and histopathologic overlaps with other odontogenic lesions and central mucoepidermoid carcinoma. To date, less than 200 cases of GOC have been published in the literature with reliable clinical and histopathologic information. Furthermore, the lack of a well-documented GOC case series impairs a more detailed understanding about the biological behavior and appropriate management of the lesion.

Temporomandibular Joint Ankylosis Surgery in Children.

Purpose: A variety of techniques have been described in the literature for the treatment of temporomandibular joint ankylosis. However, 1 of the factors most commonly related to the failure of maintenance mouth opening in the postoperative period is the inadequate excision of the ankylotic mass. Furthermore, the surrounding noble structures, such as the base of the skull, internal maxillary artery, and dental germs, are at risk of being affected during the procedure.

Multiple adenomatoid odontogenic tumors in a patient with Schimmelpenning syndrome.

Schimmelpenning syndrome (SS) is a congenital neurocutaneous disorder characterized by the presence of linear nevus sebaceous, ophthalmic, neurologic, skeletal, urologic, and cardiovascular alterations. Oral manifestations related to SS mainly include dental defects, papillary lesions in the oral mucosa, giant cell lesions of the jaws, and odontogenic tumors. Here, we report the first case of multiple adenomatoid odontogenic tumor observed in a patient with SS.

The Wnt/β-catenin pathway is deregulated in cemento-ossifying fibromas.

Objective: The molecular pathogenesis of cemento ossifying fibroma (COF) is unclear. The purpose of this study was to investigate mutations in 50 oncogenes and tumor suppressor genes, including APC and CTNNB1, in which mutations in COF have been previously reported. In addition, we assessed the transcriptional levels of the Wnt/β-catenin pathway genes in COF.

MicroRNA profiling reveals dysregulated microRNAs and their target gene regulatory networks in cemento-ossifying fibroma.

Background: Cemento-ossifying fibroma (COF) is a benign fibro-osseous neoplasm of uncertain pathogenesis, and its treatment results in morbidity. MicroRNAs (miRNA) are small non-coding RNAs that regulate gene expression and may represent therapeutic targets. The purpose of the study was to generate a comprehensive miRNA profile of COF compared to normal bone.

BRAFV600E mutation in the diagnosis of unicystic ameloblastoma.

Background: Unicystic ameloblastoma, an odontogenic neoplasm, presents clinical and radiographic similarities with dentigerous and radicular cysts, non-neoplastic lesions. It is not always possible to reach a final diagnosis with the incisional biopsy, leading to inappropriate treatment. The BRAFV600E activating mutation has been reported in a high proportion of ameloblastomas.

Clinicopathologic features associated with recurrence of the odontogenic keratocyst: a cohort retrospective analysis.

Objective: The aim of this study was to evaluate the influence of clinical, radiographic, surgical and histopathologic parameters in the recurrence of disease in a series of odontogenic keratocysts (OKCs).

Study Design: The sample comprised 24 sporadic OKC lesions from 24 patients. All patients had no previous treatment history and were treated by the same surgeon using a uniform treatment protocol (enucleation with peripheral ostectomy preceded or not preceded by decompression).

Oral Spindle Cell Lipoma in a Rare Location: A Differential Diagnosis.

Background: Spindle cell lipoma (SCL) is an uncommon and histologically distinct variant of lipoma. It usually occurs as a solitary, subcutaneous, and well-circumscribed lesion in the posterior neck, shoulders, and back of older men. SCL of the oral cavity is rare.

Epigenetic regulation of matrix metalloproteinase expression in ameloblastoma.

Background: An 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.

miR-15a/16-1 influences BCL2 expression in keratocystic odontogenic tumors.

Background: A keratocystic odontogenic tumor (KCOT) is a benign destructive recurrent odontogenic cystic neoplasm. The microRNAs (miRNAs) miR-15a and miR-16-1 function as negative regulators of the anti-apoptotic gene BCL2 at the post-transcriptional level. Notably, high Bcl-2 immunoexpression is found in the epithelial lining of KCOTs, while the loss of Bcl-2 immunopositive cells is observed in marsupialized cysts.

Loss of heterozygosity of the PTCH gene in ameloblastoma.

Ameloblastoma is a locally aggressive benign neoplasm derived from odontogenic epithelium, with high recurrence rates. Alterations in the Sonic Hedgehog signaling pathway, including PTCH gene mutations, have been associated with the pathogenesis of some odontogenic tumors. The purpose of the present study was to assess loss of heterozygosity at the PTCH locus in ameloblastoma.