Introduction: Segmental Odontomaxillary Dysplasia (SOD) is a non-hereditary, unilateral developmental anomaly recently included in the WHO's classification of head and neck tumors.
Case Presentation: Here, we report the case of an 8-year-old boy presenting with unilateral maxillary enlargement and pain without facial asymmetry. Computed tomography revealed a hypodense area in the maxillary bone with altered bone structure and osseous expansion.
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.
Oral Surg Oral Med Oral Pathol Oral Radiol
July 2024
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.
View Article and Find Full Text PDFCemento-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.
View Article and Find Full Text PDFBackground: 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.
View Article and Find Full Text PDFOral Surg Oral Med Oral Pathol Oral Radiol
March 2023
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.
View Article and Find Full Text PDFIndividuals with chronic liver disease (CLD) have an increased risk of bleeding from thrombocytopenia and changes in hemostasis. The aim of this study was to evaluate the frequency of and the factors associated with the occurrence of bleeding in CLD patients who underwent dental surgical procedures. This was a retrospective study whose data were collected in a hospital dentistry service between 2010 and 2016.
View Article and Find Full Text PDFOral Surg Oral Med Oral Pathol Oral Radiol
July 2022
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.
View Article and Find Full Text PDFJ Oral Pathol Med
February 2022
Background: Central giant cell granulomas (CGCG) of the jaws are osteolytic lesions that may behave aggressively and respond poorly to surgery. Microscopically, in addition to giant cells, there is a mononuclear cell population composed of macrophage/monocytic cells and spindle-shaped cells of mesenchymal origin. Seventy two percent of these tumours harbour mutually exclusive TRPV4, KRAS and FGFR1 mutations.
View Article and Find Full Text PDFThe coronavirus disease (COVID-19) has been prioritized in relation to other illnesses considered critical, such as cancer, cardiovascular diseases/stroke, diabetes, and autoimmune diseases. The management of patients with these diseases involves dental care to reduce systemic complications caused by odontogenic infections, and/or to treat oral manifestations of systemic comorbidities. In this regard, the dental care of these individuals must be guaranteed during the pandemic.
View Article and Find Full Text PDFJ Oral Pathol Med
May 2021
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.
View Article and Find Full Text PDFOral Surg Oral Med Oral Pathol Oral Radiol
December 2020
Hyaline fibromatosis syndrome (HFS) is a rare monogenic disease inherited in an autosomal recessive pattern and characterized by hyaline deposits on the skin, mucosa, and multiple organs; osteoporosis; and joint contractures. This progressive condition is caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2). HFS is a disabling disease, and patients suffer from progressive pain and disfiguring symptoms.
View Article and Find Full Text PDFOral Surg Oral Med Oral Pathol Oral Radiol
July 2020
Objective: Odontogenic myxoma (OM) occasionally responds poorly to surgical treatment. The MAPK pathway is constitutively activated in several neoplasms and we aimed to test if the MAPK pathway is activated in OM, in order to pave the way for an alternative therapy for aggressive and recurrent cases.
Materials And Methods: The immunoexpression of phosphorylated ERK1/2 (pERK1/2) was assessed in OM.
Oral Surg Oral Med Oral Pathol Oral Radiol
January 2020
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.
View Article and Find Full Text PDFObjectives: The establishment of animal models of xenotransplantation can contribute to the elucidation of the molecular pathogenesis of ameloblastic fibrodentinomas (AFD) and it also provides an opportunity for drug tests. We aimed to evaluate the possibility of AFD tumour growth in a patient-derived xenograft (PDX) model. In addition, we characterized the human tumour and the PDXs.
View Article and Find Full Text PDFImaging Sci Dent
December 2018
This report presents a clinical case of trauma due to assault with a knife, and describes the importance of using the correct imaging modality in cases of facial penetrating trauma involving the superficial and deep anatomical planes. Penetrating wounds in the maxillofacial region are rare and poorly reported, but can result in serious complications that are difficult to resolve and may compromise the patient's quality of life, especially when large blood vessels or other vital structures are involved. Thus, it is essential to determine the extent of the affected blood vessels and the proximity of the retained object to the anatomical structures.
View Article and Find Full Text PDFBackground: Benign neoplasms exhibit most of the cellular phenomena considered hallmarks of cancer, except the capacity to metastasize. Thus, the elucidation of the mechanisms associated with the progression of benign neoplasms may complement and clarify the mechanisms involved in carcinogenesis. Benign odontogenic tumours often result in facial deformities and morbidities, and have complex pathogenesis, mainly due to the diversity of interactions between the odontogenic epithelium and the ectomesenchyme.
View Article and Find Full Text PDFGiant cell lesions of the jaw (GCLJ) are debilitating tumors of unknown origin with limited available therapies. Here, we analyze 58 sporadic samples using next generation or targeted sequencing and report somatic, heterozygous, gain-of-function mutations in KRAS, FGFR1, and p.M713V/I-TRPV4 in 72% (42/58) of GCLJ.
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