RESUMO
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. The diagnosis of tenosynovial giant cell tumor was made based on the presence of hyperplastic synovial lining containing mononuclear and giant cells, hemorrhagic areas, hemosiderin deposits, and calcification foci in the biopsy. A low condylectomy was performed, and histopathologic analysis of the surgical piece upheld the diagnosis. Due to histopathologic resemblance with other giant cell-rich lesions (giant cell granuloma of the jaws, brown tumor of hyperparathyroidism, and non-ossifying fibroma) for which signature mutations are known, mutational analysis of KRAS, FGFR1, and TRPV4 genes was conducted. The results revealed wild-type sequences for all the mutations tested, thereby supporting the diagnosis of tenosynovial giant cell tumor.
Assuntos
Tumor de Células Gigantes de Bainha Tendinosa , Humanos , Feminino , Pessoa de Meia-Idade , Tumor de Células Gigantes de Bainha Tendinosa/patologia , Tumor de Células Gigantes de Bainha Tendinosa/genética , Tumor de Células Gigantes de Bainha Tendinosa/cirurgia , Diagnóstico Diferencial , Biópsia , Transtornos da Articulação Temporomandibular/patologia , Transtornos da Articulação Temporomandibular/cirurgia , Transtornos da Articulação Temporomandibular/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Análise Mutacional de DNA , Proteínas Proto-Oncogênicas p21(ras)RESUMO
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. STUDY DESIGN: We retrospectively reviewed the clinicopathological findings and therapeutical procedures of 12 unicystic ameloblastoma cases treated by the same surgeon during the past 20 years. METHODS: All cases of unicystic ameloblastoma diagnosed by biopsy and treated by the same surgeon between 2002 and 2022 were reviewed. Eligibility criteria were patients with completely filled-out charts containing the follow-up period and confirmation of the diagnoses based on the microscopic findings of the whole excised specimens. Data collected were categorized into clinical, radiographic, histological, surgical, and recurrence aspects. RESULTS: There was a female predilection (2:1), and ages ranged between 18 and 61 years (mean: 27.25, ±12.45). Almost all (92%) affected the posterior mandible. Radiographically, the mean length of the lesions was 46.14 mm ± 14.28 mm which 92% were unilocular and 8.3% multilocular. Root resorption (n = 7, 58%), tooth displacement (n = 9, 75%), and cortical perforation (n = 5, 42%) were also observed. The mural histological subtype corresponded to 9 (75%) of the cases. The same conservative protocol was performed in all cases. The follow-up period ranged between 12 and 240 months (~62 ± 65) and recurrence occurred in only one patient (8%). CONCLUSION: Our findings suggest a conservative approach should be the first option for unicystic ameloblastoma treatment, even for those with mural proliferation.
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Ameloblastoma , Tumores Odontogênicos , Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Ameloblastoma/diagnóstico por imagem , Ameloblastoma/cirurgia , Estudos Retrospectivos , Mandíbula/patologia , BiópsiaRESUMO
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. The present case reports a 14-year-old boy with multiple central GCGJ and no obvious syndromic trait. Sanger sequencing-based analysis revealed wild-type sequences for SH3BP2 (exon 9), KRAS (exons 2-4), and FGFR1 (exons 9 and 10) genes. A rare TRPV4 somatic mutation (p.Val708Met) was detected in the lesion on the right side of the mandible, whereas the other tumor and the normal oral mucosa revealed wild-type TRPV4 sequences. This report expands the spectrum of TRPV4 somatic mutations in central GCGJ.
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Granuloma de Células Gigantes , Masculino , Humanos , Adolescente , Granuloma de Células Gigantes/genética , Canais de Cátion TRPV/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Mutação/genética , Arcada Osseodentária/patologiaRESUMO
Cheilitis glandularis (CG) is a rare inflammatory disease of unknown etiology that affects the minor salivary glands predominantly in the lower lip. In this article, we report the case of an 18-year-old black woman who presented with a deep suppurative type of CG in both lips. In addition, we performed a systematic literature review in five databases (PubMed, Scopus, Web of Science, Ovid, and Embase) to identify CG case reports or case series. A total of 360 references were retrieved in the electronic databases. Thirty-four articles met the inclusion criteria, and six were retrieved through manual search, totaling 40 articles included in the systematic review. Thirty-nine (68.4%) cases occurred in male individuals and 18 (31.6%) in female individuals. The mean age of affected individuals was 40.9 years. Different clinical manifestations ranging from no symptoms to discomfort, pain, swelling, erythema, eversion of the lip, dilated ductal openings, ulcers, and crust have been reported. Among the included CG cases, 41 affected exclusively the lower lip (71.9%). In four cases, the CG only affected the upper lip (7.0%). In 12 cases, the lesion affected both the lower and upper lips (21.1%). Different treatment modalities were adopted in the management of CG. Although the surgical treatment was indicated (42.1%), the conservative treatment with topical medications, as in the present case, resulted in resolution in 21.0% of cases.
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Queilite , Sialadenite , Masculino , Humanos , Feminino , Adulto , Adolescente , Queilite/diagnóstico , Sialadenite/patologia , Lábio/patologia , Glândulas Salivares Menores/patologiaRESUMO
Follicular lymphoma is a hematolymphoid neoplasm that originates from germinal center B cells. It is made up of a combination of small cleaved centrocytes and a varying quantity of larger non-cleaved centroblasts to describe the clinical, microscopic, immunohistochemical, and molecular features of oral follicular lymphomas. Follicular lymphomas affecting the oral cavity were retrieved from pathology files. Immunohistochemistry was performed to confirm the diagnosis, and fluorescence in situ hybridization (FISH) was employed to detect rearrangements in BCL2, BCL6, and MYC genes. Clinical and follow-up data were obtained from the patient's medical and pathology files. Twenty cases were obtained. There was an equal sex distribution (10 males: 10 females) and a mean age of 60.9 years (range: 10-83 years-old). Lesions presented as asymptomatic swellings, usually in the palate (10 cases) and the buccal mucosa (7 cases). Five patients presented with concomitant nodal involvement. Microscopic evaluation depicted the follicular growth pattern with diffuse areas in six cases. Grades 1 and 2 follicular lymphomas represented 12 cases, while grade 3A neoplasms accounted for other 8 cases. Two cases showed rearrangements in MYC, BCL2, and BCL6 genes, while single BCL2 translocation was found in eight cases. Two cases had no translocation. Three patients deceased and the 2-year overall survival achieved 88%. Follicular lymphoma affecting the oral cavity is uncommon, usually affects the palate as a non-ulcerated swelling and the presence of a systemic disease most always be ruled out.
Assuntos
Linfoma Folicular , Feminino , Masculino , Humanos , Pessoa de Meia-Idade , Criança , Adolescente , Adulto Jovem , Adulto , Idoso , Idoso de 80 Anos ou mais , Linfoma Folicular/diagnóstico , Hibridização in Situ Fluorescente , Linfócitos B , Centro Germinativo , Translocação Genética/genética , Proteínas Proto-Oncogênicas c-bcl-2/genéticaRESUMO
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. Cone beam computed tomography revealed a well-defined unilocular hypodense tumor involving the left maxillary sinus. Histopathological examination of the surgically excised specimen showed a cystic tumor lined by an ameloblastic-like epithelium containing columnar basal cells with hyperchromatic and polarized nuclei. In some areas of the capsule, the tumor showed mural infiltration by sheets of cells containing central whirling structures. Dentinoid material was also observed in association with ameloblastic-like cells. The tumor was BRAF and KRAS wild-type. Collectively, these findings were consistent with the diagnosis of a unicystic variant of adenoid ameloblastoma with dentinoid.
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Tonsila Faríngea , Ameloblastoma , Tumores Odontogênicos , Tonsila Faríngea/patologia , Adulto , Ameloblastoma/diagnóstico por imagem , Ameloblastoma/genética , Ameloblastoma/cirurgia , Epitélio/patologia , Humanos , Masculino , Maxila/patologiaRESUMO
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. We aimed to assess the mutational status of mononuclear and giant cells and the osteogenic potential of stromal cells in vitro and in vivo. METHODS AND RESULTS: We screened CGCG for signature mutations and used laser-capture microdissection to demonstrate that the mutations are restricted to the mononuclear cells. Additionally, we established CGCG primary cell culture and observed that the cells retained the mutations throughout passages. By flow cytometry, we observed predominance of CD14- CD51- CD61- cells, consistent with the expected profile for stromal cells. Considering the mesenchymal origin of stromal cells, we assessed the osteogenic differentiation potential of CGCG cells in culture by cytochemistry (von Kossa and alizarin red staining), alkaline phosphatase (ALP) activity assay and gene expression of osteogenic markers. CGCG cells presented self-capacity to increase ALP levels in a time-dependent manner and under osteogenic induction presented increasing number of calcium deposits, and overall higher expression of osteocalcin, RUNX2, ALPL and osteopontin than cells without osteogenic induction. A patient-derived xenograft model for CGCG was established, and osteoid material deposition was observed. CONCLUSION: Collectively, the results confirm that the signature mutations are restricted to stromal cells in CGCG, and the in vitro and in vivo results support that these cells have the capacity to differentiate into osteoblasts, in line with the bone formation often observed in the stroma of these lesions.
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Granuloma de Células Gigantes , Células-Tronco Mesenquimais , Fosfatase Alcalina , Diferenciação Celular , Células Cultivadas , Granuloma de Células Gigantes/genética , Humanos , Arcada Osseodentária , Mutação , Osteogênese/genética , Células EstromaisRESUMO
OBJECTIVE: We aimed to assess which metabolic pathways would be implicated in the phenotypic changes of the epithelial lining of odontogenic keratocyst after marsupialization, comparing pre- and post-marsupialized lesions with adjacent oral mucosa. MATERIALS AND METHODS: Eighteen formalin-fixed and paraffin-embedded tissues from six subjects were divided into three paired groups: odontogenic keratocyst pre- (n = 6) and post-marsupialization (n = 6), and adjacent oral mucosa (n = 6). The metabolic pathways found in these groups were obtained by high-performance liquid chromatography-mass spectrometry-based untargeted metabolomics performed. RESULTS: Through putative metabolite annotation followed by pathway enrichment and predictive analysis with automated algorithms (Mummichog and Gene Set Enrichment Analysis), we found differences in many cellular processes that may be involved in inflammation, oxidative stress response, keratinocyte-basal membrane attachment, differentiation, and proliferation functions, all relevant to odontogenic keratocyst pathobiology and the phenotype acquired after marsupialization. CONCLUSION: Our study was able to identify several metabolic pathways potentially involved in the metaplastic changes induced by marsupialization of odontogenic keratocysts. An improved comprehension of this process could pave the way for the development of targeted therapies.
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Cistos Odontogênicos , Tumores Odontogênicos , Formaldeído , Humanos , Cistos Odontogênicos/patologia , Cistos Odontogênicos/cirurgia , Projetos PilotoRESUMO
The 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. Although a high risk of exposure to and catching of COVID-19 is expected to befall dental professionals, biosafety guidelines reduce the likelihood of infection. Thus, the current scenario poses challenges, and offers decision-making approaches and tools that facilitate the management of individuals with oral manifestations of chronic and/or critical diseases, using hospital-based services. This article presents an overview for hospital service providers who are at the forefront of COVID-19 care, including a secure protocol, and clinical guidelines based on the experience of the Hospital das Clínicas in Belo Horizonte, a public referral service, supported by the Brazilian National Health System.
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COVID-19 , Pandemias , Brasil/epidemiologia , Assistência Odontológica , Hospitais , Humanos , SARS-CoV-2RESUMO
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. This information has an important role in the use of BRAF p.V600E assessment as an auxiliary tool in the differential diagnosis between unicystic ameloblastoma and other odontogenic cystic lesions, especially when only incisional biopsies are available. Therefore, the purpose of the present study was to investigate BRAF p.V600E heterogeneity in unicystic ameloblastoma. METHODS: Five cases of ameloblastoma and two dentigerous cysts were analysed. The regions exhibiting different microscopic characteristics were selected from each ameloblastoma case and manually dissected. TaqMan allele-specific qPCR or Sanger sequencing was performed to determine BRAF p.V600E status. RESULTS: We screened the mutation in a small cohort of UA and no molecular heterogeneity was found. Four cases of ameloblastoma (80%) exhibited BRAF p.V600E in all different areas evaluated. One case did not harbour the mutation in any microscopic region analysed. The BRAF mutation was absent in the dentigerous cysts. CONCLUSION: Ameloblastomas appear to exhibit a homogeneous profile regarding the BRAF p.V600E no matter what histological feature is observed under light microscopy, suggesting that this molecular test may contribute to establish the correct diagnosis in cases microscopically resembling other odontogenic lesions.
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Ameloblastoma , Cistos Odontogênicos , Ameloblastoma/diagnóstico , Ameloblastoma/genética , Diagnóstico Diferencial , Humanos , Mutação , Proteínas Proto-Oncogênicas B-raf/genéticaRESUMO
Abstract The 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. Although a high risk of exposure to and catching of COVID-19 is expected to befall dental professionals, biosafety guidelines reduce the likelihood of infection. Thus, the current scenario poses challenges, and offers decision-making approaches and tools that facilitate the management of individuals with oral manifestations of chronic and/or critical diseases, using hospital-based services. This article presents an overview for hospital service providers who are at the forefront of COVID-19 care, including a secure protocol, and clinical guidelines based on the experience of the Hospital das Clínicas in Belo Horizonte, a public referral service, supported by the Brazilian National Health System.
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Humanos , Pandemias , COVID-19 , Brasil/epidemiologia , Assistência Odontológica , SARS-CoV-2 , HospitaisRESUMO
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. There are few published case reports detailing oral findings in patients with this condition. The present case report describes a 4-year-old female patient who showed severe manifestations of HFS, emphasizing the oral manifestations, the histopathologic aspects of HFS, the molecular pathogenesis, and the interdisciplinary management of patients affected by this condition.
Assuntos
Síndrome da Fibromatose Hialina , Pré-Escolar , Feminino , Humanos , Síndrome da Fibromatose Hialina/diagnóstico , Síndrome da Fibromatose Hialina/genética , Mutação , Doenças Raras , Receptores de Peptídeos/genéticaRESUMO
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. We established a 3D organotypic culture model for the in vitro study and patient-derived xenografts (PDX) in mice for the in vivo study. The MEK inhibitor U0126 was used to inhibit phosphorylation of ERK1/2 in the in vitro and in vivo models. RESULTS: All OM showed strong pERK1/2 immunoexpression, consistent with MAPK pathway activation. Treatment of the 3D culture with U0126 resulted in a reduced pERK1/2/ERK1/2 ratio. Consistent with the in vitro results, all PDX of animals treated with U0126 showed a decreased volume fold change compared with controls. CONCLUSIONS: The MAPK pathway is activated in OM and its inhibition leads to tumor shrinkage in PDX and cell culture models. CLINICAL RELEVANCE: Our results offer a pre-clinical frame for OM-targeted therapy. Further work is needed to determine if this initial finding holds clinical promise.
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Doenças da Boca , Mixoma , Animais , Fosfatase 1 de Especificidade Dupla/efeitos dos fármacos , Humanos , Camundongos , Doenças da Boca/tratamento farmacológico , Mixoma/tratamento farmacológico , FosforilaçãoRESUMO
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.
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Ameloblastoma , Nevo Sebáceo de Jadassohn , Nevo , Tumores Odontogênicos , HumanosRESUMO
BACKGROUND: 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. Primary cell culture of such tumours is not only difficult to be established and maintained, but also tumour cells lose characteristic cellular morphology. Considering gene expression, growth, migration, proliferation and cellular morphology are controlled by cell-cell interactions and cell-extracellular matrix interactions, cell culture in 3D substrates has gained space as a way to overcome some of the limitations of traditional monolayer cell culture systems. METHODS: In this study, fragments obtained from mesenchymal odontogenic tumours were cultured in type I collagen scaffolds. Invasion tests were performed in these models, as well as phenotypic characterization of the cultured tumours. RESULTS: The results obtained for the odontogenic myxoma and the cemento-ossifying fibroma demonstrate a good reproduction of the growth pattern of these tumours under ex vivo conditions. Microscopic evaluation showed maintenance of cell viability in the explants for more than 30 days, without the presence of necrosis. CONCLUSION: This is the first study involving long-term 3D primary cultures of benign odontogenic tumours, which is expected to support complex approaches to cell and molecular biology, and to serve as an experimental model for testing molecular therapies.
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Técnicas de Cultura de Células/métodos , Técnicas In Vitro , Tumores Odontogênicos/patologia , Carcinogênese , Comunicação Celular , Movimento Celular , Proliferação de Células , Sobrevivência Celular , Cementoma , Expressão Gênica , Humanos , Tumores Odontogênicos/genética , Células Tumorais CultivadasRESUMO
Varices are benign blood vessel lesions that are common in the head and neck regions. The aim of this case report is to highlight an uncommon case of gingival varices and its diagnosis and management. This is the second time that a case of varices has been reported at this site. Monoethanolamine oleate (MO) at a 2.5% concentration was used as the treatment. A 66-year-old woman presented spontaneous gingival bleeding in the region of the mandibular first and second left molars. A macula and gingival enlargement on the interproximal papillae were observed. No bleeding was observed during the oral examination. The clinical diagnosis was varices. The patient was given two sessions of sclerotherapy with 2.5% MO applied to the lesion, with 15 days between applications. The lesion showed total clinical resolution, and the patient is in follow-up. This paper reports a rare case of varices in the gingival mandible, with the diagnosis based on the patient's age, time evolution of the lesion's, and its clinical characteristics. The concentration of 2.5% MO is safe and efficient, a conservative treatment, and easy to apply.
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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. Additionally, the most relevant pathways and target genes of differentially expressed miRNA were investigated by in silico analysis. METHODS: Nine COF and ten normal bone samples were included in the study. miRNA profiling was carried out by using TaqMan® OpenArray® Human microRNA panel containing 754 validated human miRNAs. We identified the most relevant miRNAs target genes through the leader gene approach, using STRING and Cytoscape software. Pathways enrichment analysis was performed using DIANA-miRPath. RESULTS: Eleven miRNAs were downregulated (hsa-miR-95-3p, hsa-miR-141-3p, hsa-miR-205-5p, hsa-miR-223-3p, hsa-miR-31-5p, hsa-miR-944, hsa-miR-200b-3p, hsa-miR-135b-5p, hsa-miR-31-3p, hsa-miR-223-5p and hsa-miR-200c-3p), and five were upregulated (hsa-miR-181a-5p, hsa-miR-181c-5p, hsa-miR-149-5p, hsa-miR-138-5p and hsa-miR-199a-3p) in COF compared to normal bone. Eighteen common target genes were predicted, and the leader genes approach identified the following genes involved in human COF: EZH2, XIAP, MET and TGFBR1. According to the biology of bone and COF, the most relevant KEGG pathways revealed by enrichment analysis were proteoglycans in cancer, miRNAs in cancer, pathways in cancer, p53-, PI3K-Akt-, FoxO- and TGF-beta signalling pathways, which were previously found to be differentially regulated in bone neoplasms, odontogenic tumours and osteogenesis. CONCLUSION: miRNA dysregulation occurs in COF, and EZH2, XIAP, MET and TGFBR1 are potential targets for functional analysis validation.
Assuntos
Neoplasias Ósseas/genética , Neoplasias Ósseas/metabolismo , Fibroma Ossificante/genética , Fibroma Ossificante/metabolismo , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Redes Reguladoras de Genes , MicroRNAs/genética , Adolescente , Adulto , Biologia Computacional , Regulação para Baixo , Proteína Potenciadora do Homólogo 2 de Zeste/genética , Feminino , Fatores de Transcrição Forkhead/metabolismo , Estudos de Associação Genética , Humanos , Masculino , MicroRNAs/classificação , Pessoa de Meia-Idade , Proteínas de Neoplasias/metabolismo , Tumores Odontogênicos , Osteogênese , Fosfatidilinositol 3-Quinases/metabolismo , Proteínas Serina-Treonina Quinases/genética , Proteínas Proto-Oncogênicas c-met/genética , RNA não Traduzido , Receptor do Fator de Crescimento Transformador beta Tipo I , Receptores de Fatores de Crescimento Transformadores beta/genética , Proteína Supressora de Tumor p53/metabolismo , Regulação para Cima , Proteínas Inibidoras de Apoptose Ligadas ao Cromossomo X/genética , Adulto JovemRESUMO
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. In this case, digital subtraction angiography was the imaging modality chosen. The use of appropriate imaging examinations allows a proper map of the surgical field, reducing the chances of vascular damage during the surgical procedure.
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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/ß-catenin pathway genes in COF. STUDY DESIGN: We used a quantitative polymerase chain reaction array to evaluate the transcriptional levels of 44 Wnt/ß-catenin pathway genes in 6 COF samples, in comparison with 6 samples of healthy jaws. By using next-generation sequencing (NGS) in 7 COF samples, we investigated approximately 2800 mutations in 50 genes. RESULTS: The expression assay revealed 12 differentially expressed Wnt/ß-catenin pathway genes in COF, including the upregulation of CTNNB1, TCF7, NKD1, and WNT5 A, and downregulation of CTNNBIP1, FRZB, FZD6, RHOU, SFRP4, WNT10 A, WNT3 A, and WNT4, suggesting activation of the Wnt/ß-catenin signaling pathway. NGS revealed 5 single nucleotide variants: TP53 (rs1042522), PIK3 CA (rs2230461), MET (rs33917957), KIT (rs3822214), and APC (rs33974176), but none of them was pathogenic. CONCLUSIONS: Although NGS detected no oncogenic mutation, deregulation of key Wnt/ß-catenin signaling pathway genes appears to be relevant to the molecular pathogenesis of COF.