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Prague Medical Report 2024Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, which depicted presence of numerous basal cell carcinoma in...
Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, which depicted presence of numerous basal cell carcinoma in conjunction with multiorgan abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the keratocystic odontogenic tumour are usually one of the first manifestations of the syndrome. This article includes a case report of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumour and treatment modalities.
Topics: Child; Humans; Basal Cell Nevus Syndrome; Carcinoma, Basal Cell; Odontogenic Tumors; Phenotype; Skin Neoplasms
PubMed: 38470440
DOI: 10.14712/23362936.2024.7 -
Chirurgia (Bucharest, Romania : 1990) Feb 2024Odontogenic sinusitis is a frequent disease of the maxillary sinus, resulting from a dental inflammatory condition or a foreign body migrated in the sinus cavity. We...
Odontogenic sinusitis is a frequent disease of the maxillary sinus, resulting from a dental inflammatory condition or a foreign body migrated in the sinus cavity. We performed a clinical retrospective study aimed to review the two surgical endoscopic approaches for odontogenic maxillary sinusitis middle and inferior meatotomy, in terms of realistic indications, efficacy, outcomes, and possible complications. In our study, we included a number of 400 patients with odontogenic maxillary sinusitis divided into two groups, treated in our hospital over five years, from January 2019 to December 2023. The patients included in this research were over 18 years old, diagnosed with odontogenic maxillary sinusitis, and underwent either middle meatal antrostomy or inferior meatotomy. We examined the medical records of 400 patients. The vast majority of patients had a history of dental interventions, and the most affected tooth was the first maxillary molar. The symptoms at admission were typical for sinusitis: nasal obstruction, anterior or posterior rhinorrhea, hyposmia to anosmia, cacosmia, and pain or facial pressure. 80% of the patients in the study underwent middle meatal antrostomy, while 20% underwent inferior meatotomy. There were no significant differences between these two approaches in terms of efficacy, complication rates, recovery, or relapses. The complications that occurred after the surgical treatment were minor and with a very low frequency. The most reported were middle meatus synechiae and the persistence of the meatotomy ostium, with mucus recirculation (in patients with inferior meatotomy). Endoscopic surgical treatment of odontogenic maxillary sinusitis can be done as middle or inferior meatotomy, each having specific indications. The maxillary antrostomy is preferred in the majority of cases, as it is a procedure in which the natural ostium of the maxillary sinus is enlarged, thereby maintaining the natural drainage pathway of the sinus. However, the inferior meatotomy is preferred in the case of foreign bodies or maxillary sinus retention cysts localized at the level of the sinus floor or in the alveolar or lateral recesses, or as part of a combined approach (inferior and middle meatotomy), when the ablation of a "fungus ball" is required.
Topics: Humans; Maxillary Sinusitis; Neoplasm Recurrence, Local; Retrospective Studies; Sinus Floor Augmentation; Sinusitis; Treatment Outcome; Adult
PubMed: 38465718
DOI: 10.21614/chirurgia.2024.v.119.i.1.p.76 -
The Journal of Veterinary Medical... May 2024A 1-year-old mixed-breed cat was referred for an approximately 2-cm mass centered on the upper right canine tooth. Computed tomography (CT) revealed the lesion extended...
A 1-year-old mixed-breed cat was referred for an approximately 2-cm mass centered on the upper right canine tooth. Computed tomography (CT) revealed the lesion extended to the nasal cavity and orbit, causing thinning and expansion of the adjacent cortical bone. Excisional biopsy confirmed the diagnosis of a feline inductive odontogenic tumor. Based on the findings of CT imaging, the primary alveolar bone lesion was removed with the tumor, while the adjacent bones, which had been expanded and thinned, were preserved by marginal resection including the surrounding periosteum-like membrane. No local recurrence was observed for seven years. To validate the therapeutic outcome of this case, further research in diagnostic imaging and pathology will be crucial.
Topics: Cats; Animals; Cat Diseases; Odontogenic Tumors; Tomography, X-Ray Computed; Female; Male
PubMed: 38462498
DOI: 10.1292/jvms.23-0425 -
Turkish Archives of Pediatrics Mar 2024Although Gorlin syndrome has rich skin findings, there is limited information about their subtypes, features specific to this genodermatosis, and relationships with each...
OBJECTIVE
Although Gorlin syndrome has rich skin findings, there is limited information about their subtypes, features specific to this genodermatosis, and relationships with each other.
MATERIALS AND METHODS
The demographic characteristics as well as cutaneous and extracutaneous findings of consecutive Gorlin syndrome patients diagnosed during 23 years were evaluated retrospectively. The relationship between palmoplantar pitting and basal cell carcinoma (BCC) in this localization and the relationship between odontogenic keratocysts (OKCs) and epidermoid cysts were investigated.
RESULTS
A total of 30 patients were diagnosed with Gorlin syndrome of whom 36.7% were children. BCC was the most common finding (90%) followed by OKCs (83.3%), skeletal system anomalies (76.7%), and palmoplantar pitting (76.7%). While classical BCC (63.3%) lesions were the predominant clinical subtype among all patients, acrochordon-like or small-sized papular BCCs were seen in 45.4% of pediatric patients. Three patients, 2 of whom were children, had BCC lesions in the palmoplantar region in association with palmoplantar pitting. Epidermoid cysts presenting clinically as solitary (n = 12) or a few nodules (n = 4) without punctum, located more commonly in acral areas (n = 10) were seen in 16 (53.3%) patients of whom 7 were children. Epidermoid cysts were seen in 60% of patients with OKCs, and the relationship between epidermoid cysts and OKCs was not statistically significant (P = .15). Extracutaneous tumors such as medulloblastoma (n = 3), cardiac fibroma (n = 1), and ameloblastoma (n = 1) were also recorded.
CONCLUSION
The awareness of papular or acrochordon-like BCCs, palmoplantar BCCs, and acral epidermoid cysts without punctum may facilitate early diagnosis of Gorlin syndrome in children.
PubMed: 38454226
DOI: 10.5152/TurkArchPediatr.2024.23231 -
Cureus Jan 2024Mucoepidermoid carcinoma is a rare neoplasm of the salivary gland of which the intraosseous variety is commonly observed with a female predilection and the affected side...
Mucoepidermoid carcinoma is a rare neoplasm of the salivary gland of which the intraosseous variety is commonly observed with a female predilection and the affected side is more commonly in the mandible. It is usually perceived as an asymptomatic swelling that increases in volume over a few months to a year. They more frequently present as a cortical bulging and are mostly discovered as an accidental finding in a routine radiograph as a well-defined unilocular or multilocular radiolucency resembling an odontogenic cyst. The most widely accepted treatment is radical surgical resection due to its recurrence or metastatic nature. The current case is quite unusual developing in the posterior jaw as a result of an impacted third molar in a 22-year-old female patient.
PubMed: 38435903
DOI: 10.7759/cureus.53355 -
International Journal of Oral Science Feb 2024Ameloblastoma is a benign tumor characterized by locally invasive phenotypes, leading to facial bone destruction and a high recurrence rate. However, the mechanisms...
Ameloblastoma is a benign tumor characterized by locally invasive phenotypes, leading to facial bone destruction and a high recurrence rate. However, the mechanisms governing tumor initiation and recurrence are poorly understood. Here, we uncovered cellular landscapes and mechanisms that underlie tumor recurrence in ameloblastoma at single-cell resolution. Our results revealed that ameloblastoma exhibits five tumor subpopulations varying with respect to immune response (IR), bone remodeling (BR), tooth development (TD), epithelial development (ED), and cell cycle (CC) signatures. Of note, we found that CC ameloblastoma cells were endowed with stemness and contributed to tumor recurrence, which was dominated by the EZH2-mediated program. Targeting EZH2 effectively eliminated CC ameloblastoma cells and inhibited tumor growth in ameloblastoma patient-derived organoids. These data described the tumor subpopulation and clarified the identity, function, and regulatory mechanism of CC ameloblastoma cells, providing a potential therapeutic target for ameloblastoma.
Topics: Humans; Ameloblastoma; Neoplasm Recurrence, Local; Phenotype; Cell Transformation, Neoplastic; Gene Expression Profiling
PubMed: 38424060
DOI: 10.1038/s41368-024-00281-4 -
Cureus Jan 2024This case report discusses a 28-year-old patient who presented with a large expansile lesion of the right mandible. A maxillofacial CT showed a 6.7 x 9.1 x 7.6 cm right...
This case report discusses a 28-year-old patient who presented with a large expansile lesion of the right mandible. A maxillofacial CT showed a 6.7 x 9.1 x 7.6 cm right mandibular cystic mass containing an internal matrix of ground glass bone, representing a huge odontogenic keratocyte. Upon biopsy of the lesion, the specimen consisted of non-decalcified irregular fragments of cemento-osseous material, embedded in a minimally hemorrhagic, cellular fibrous tissue stroma, suggestive of central ossifying fibroma. This case presents an ossifying fibroma that far exceeds the average size of these masses, which typically range from 1.0 to 2.5 cm at its greatest dimension. The immense size of the lesion seen in this case is rarely encountered. This case also helps to emphasize the importance of timely diagnosis and complete resection of the lesion to prevent mass recurrence and possible malignant transformation.
PubMed: 38406103
DOI: 10.7759/cureus.52863 -
International Journal of Oral Science Feb 2024Odontogenic keratocyst (OKC) is a common jaw cyst with a high recurrence rate. OKC combined with basal cell carcinoma as well as skeletal and other developmental...
Odontogenic keratocyst (OKC) is a common jaw cyst with a high recurrence rate. OKC combined with basal cell carcinoma as well as skeletal and other developmental abnormalities is thought to be associated with Gorlin syndrome. Moreover, OKC needs to be differentiated from orthokeratinized odontogenic cyst and other jaw cysts. Because of the different prognosis, differential diagnosis of several cysts can contribute to clinical management. We collected 519 cases, comprising a total of 2 157 hematoxylin and eosin-stained images, to develop digital pathology-based artificial intelligence (AI) models for the diagnosis and prognosis of OKC. The Inception_v3 neural network was utilized to train and test models developed from patch-level images. Finally, whole slide image-level AI models were developed by integrating deep learning-generated pathology features with several machine learning algorithms. The AI models showed great performance in the diagnosis (AUC = 0.935, 95% CI: 0.898-0.973) and prognosis (AUC = 0.840, 95%CI: 0.751-0.930) of OKC. The advantages of multiple slides model for integrating of histopathological information are demonstrated through a comparison with the single slide model. Furthermore, the study investigates the correlation between AI features generated by deep learning and pathological findings, highlighting the interpretative potential of AI models in the pathology. Here, we have developed the robust diagnostic and prognostic models for OKC. The AI model that is based on digital pathology shows promise potential for applications in odontogenic diseases of the jaw.
Topics: Humans; Artificial Intelligence; Diagnosis, Differential; Odontogenic Cysts; Basal Cell Nevus Syndrome; Odontogenic Tumors; Prognosis
PubMed: 38403665
DOI: 10.1038/s41368-024-00287-y -
International Journal of Molecular... Feb 2024Odontogenic keratocyst (OK) is a benign intraosseous cystic lesion characterized by a parakeratinized stratified squamous epithelial lining with palisade basal cells. It...
UNLABELLED
Odontogenic keratocyst (OK) is a benign intraosseous cystic lesion characterized by a parakeratinized stratified squamous epithelial lining with palisade basal cells. It represents 10-12% of odontogenic cysts. The changes in its classification as a tumor or cyst have increased interest in its pathogenesis.
OBJECTIVE
Identify key genes in the pathogenesis of sporadic OK through in silico analysis.
MATERIALS AND METHODS
The GSE38494 technical sheet on OK was analyzed using GEOR2. Their functional and canonical signaling pathways were enriched in the NIH-DAVID bioinformatic platform. The protein-protein interaction network was constructed by STRING and analyzed with Cytoscape-MCODE software v 3.8.2 (score > 4). Post-enrichment analysis was performed by Cytoscape-ClueGO.
RESULTS
A total of 768 differentially expressed genes (DEG) with a fold change (FC) greater than 2 and 469 DEG with an FC less than 2 were identified. In the post-enrichment analysis of upregulated genes, significance was observed in criteria related to the organization of the extracellular matrix, collagen fibers, and endodermal differentiation, while the downregulated genes were related to defensive response mechanisms against viruses and interferon-gamma activation.
CONCLUSIONS
Our in silico analysis showed a significant relationship with mechanisms of extracellular matrix organization, interferon-gamma activation, and response to viral infections, which must be validated through molecular assays.
Topics: Humans; Interferon-gamma; Odontogenic Cysts; Odontogenic Tumors; Protein Interaction Maps
PubMed: 38397053
DOI: 10.3390/ijms25042379 -
International Journal of Molecular... Feb 2024Ameloblastoma is a rare tumor but represents the most common odontogenic neoplasm. It is localized in the jaws and, although it is a benign, slow-growing tumor, it has...
Ameloblastoma is a rare tumor but represents the most common odontogenic neoplasm. It is localized in the jaws and, although it is a benign, slow-growing tumor, it has an aggressive local behavior and high recurrence rate. Therefore, alternative treatment options or complementary to surgery have been evaluated, with the most promising one among them being a targeted therapy with the murine sarcoma viral oncogene homologue B (), as in ameloblastoma the activating mutation V600E in BRAF is common. Studies in other tumors have shown that the synchronous inhibition of BRAF and human murine double minute 2 homologue (MDM2 or HDM2) protein is more effective than BRAF monotherapy, particularly in the presence of wild type p53 (WTp53). To investigate the MDM2 protein expression and gene amplification in ameloblastoma, in association with BRAF and p53 expression. Forty-four cases of ameloblastoma fixed in 10% buffered formalin and embedded in paraffin were examined for MDM2 overexpression and BRAF and p53 expression by immunohistochemistry, and for ploidy with fluorescence in situ hybridization. Sixteen of forty-four (36.36%) cases of ameloblastoma showed MDM2 overexpression. Seven of sixteen MDM2-positive ameloblastomas (43.75%) were BRAF positive and fifteen of sixteen MDM2-positive ameloblastomas (93.75%) were p53 negative. All MDM2 overexpressing tumors did not show copy number alterations for MDM2. Overexpression of MDM2 in ameloblastomas is not associated with MDM2 amplification, but most probably with MAPK activation and WTp53 expression. Further verification of those findings could form the basis for the use of MDM2 expression as a marker of MAPK activation in ameloblastomas and the trial of dual BRAF/MDM2 inhibition in the management of MDM2-overexpressing/BRAFV600E-positive/WTp53 ameloblastomas.
Topics: Animals; Humans; Mice; Ameloblastoma; In Situ Hybridization, Fluorescence; Mutation; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-mdm2; Tumor Suppressor Protein p53
PubMed: 38396916
DOI: 10.3390/ijms25042238