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International Journal of Applied &... 2023Myotonic dystrophy, also referred myotonic muscular dystrophy, is an autosomal dominant, slowly progressive, multisystem disease characterized by skeletal muscle...
Myotonic dystrophy, also referred myotonic muscular dystrophy, is an autosomal dominant, slowly progressive, multisystem disease characterized by skeletal muscle weakness, wasting, and myotonia. A hybrid tumor of odontogenic apparatus is a lesion showing combined histopathological characteristics of two or more previously recognized odontogenic tumors and/or cysts of different categories. We, therefore, report a case of hybrid tumor (adenomatoid odontogenic tumor associated with calcifying cystic odontogenic tumor) in a myotonic dystrophic patient.
PubMed: 38229729
DOI: 10.4103/ijabmr.ijabmr_208_23 -
Cureus Sep 2023The myxofibroma (MF) constitutes an uncommon, non-malignant, odontogenic neoplasm with potential mesenchymal derivation. The occurrence rate of this particular tumor is...
The myxofibroma (MF) constitutes an uncommon, non-malignant, odontogenic neoplasm with potential mesenchymal derivation. The occurrence rate of this particular tumor is estimated to be around 0.05 new cases per million individuals annually. MFs exhibit a higher incidence rate within the age range of 10 to 30 years. The prevalence of these tumors is higher among the female population, with a predominant localization in the mandible, specifically in the posterior region. A female patient, 66 years old, was referred to the Department of Oral Surgery, Surgical Implantology and Radiology, Thessaloniki, Greece, complaining of a tumorous lesion in the anterior area of the maxilla and mild pain. Clinically, a solid in palpation lobulated tumor, covered by normal coloured mucosa was observed at the left upper incisor. After the excisional biopsy, the microscopic appearance of abundant fibromyxoid stroma, in particular, myxoid stroma intermingled with collagenous tissue, covered by stratified squamous epithelium, suggested the diagnosis of peripheral myxofibroma. During a 2-year follow-up, no recurrence was referred. This case illustrates the necessity of proper differential diagnosis of every tumorous lesion of the gingiva and of using the histopathological examination.
PubMed: 37868532
DOI: 10.7759/cureus.45669 -
Cureus Jul 2023Odontomas are the most common odontogenic neoplasms. They are generally small and asymptomatic. This article presents an unusual case of a giant maxillary complex...
Odontomas are the most common odontogenic neoplasms. They are generally small and asymptomatic. This article presents an unusual case of a giant maxillary complex odontoma, which obscured a part of the maxillary antrum and impacted a tooth. This was discovered during an episode of maxillofacial cellulitis. In this case, surgical excision of the lesion was performed under general anesthesia, and the closure was performed with a fat pad pedicled flap. A brief review of the literature was performed to analyze the characteristics of this clinical entity and their implication in the treatment.
PubMed: 37637586
DOI: 10.7759/cureus.42546 -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2024Paracoccidioidomycosis (PCM) is the leading cause of death among systemic mycoses in Brazil. On the other hand, oral squamous cell carcinoma (OSCC) is the most prevalent... (Review)
Review
BACKGROUND
Paracoccidioidomycosis (PCM) is the leading cause of death among systemic mycoses in Brazil. On the other hand, oral squamous cell carcinoma (OSCC) is the most prevalent malignant neoplasm of the mouth. Both lesions rarely affect the tongue dorsum and may share similar clinical characteristics. This study aimed to retrieve cases of single oral ulcers diagnosed as PCM or OSCC.
MATERIAL AND METHODS
A cross-sectional retrospective study was conducted. All patients who had a single ulcer on dorsum of the tongue and confirmed diagnosis of PCM or OSCC were evaluated.
RESULTS
A total of 9 patients (5 women and 4 men) were evaluated, 5 patients had OSCCs (mean age = 69,8 years old), and 4 patients PCM (mean age = 51 years old). Most of the lesions were infiltrated and indurated in the palpation exam. Duration ranged from 1 to 12 months (mean time of 5.2 months and 4.7 months for OSCC and PCM, respectively). OSCC was the main clinical diagnosis hypothesis.
CONCLUSIONS
Although uncommon, PCM and OSCC should be considered as a differential diagnosis hypothesis in infiltrated ulcers on the tongue dorsum. Incisional biopsy is mandatory to confirm the diagnosis and indicate the appropriate treatment.
Topics: Humans; Cross-Sectional Studies; Retrospective Studies; Male; Female; Middle Aged; Aged; Ameloblastoma; Adult; Latin America; Aged, 80 and over; Paracoccidioidomycosis; Tongue Neoplasms
PubMed: 38615253
DOI: 10.4317/medoral.26493 -
Journal of Medical Case Reports Apr 2024Reconstruction of the entire dentition with odontogenic keratocyst is a very challenging quandary. Most cases of odontogenic keratocyst are often reported to be benign,... (Review)
Review
BACKGROUND
Reconstruction of the entire dentition with odontogenic keratocyst is a very challenging quandary. Most cases of odontogenic keratocyst are often reported to be benign, resulting in severe occlusal discrepancies with the maxillary and mandibular dentition. Dental radiographs occasionally reveal an uncommon, locally aggressive developing cyst termed as odontogenic keratocyst, which is typically located in the posterior jaw. When this cyst occurs in the anterior region, it is often misdiagnosed with other periapical lesions due to its lack of response to pulp vitality tests.
CASE PRESENTATION
This clinical case scenario demarcates the endodontic management of a patient diagnosed with odontogenic keratocyst. A 37-year-old Indian male patient reported to the department with throbbing pain in the lower left posterior tooth requiring endodontic therapy. This patient also presented with odontogenic keratocyst in the anterior region of the jaw, for which he had undergone surgical rehabilitation. This case report highlights the clinical protocol for the endodontic therapy in patient diagnosed with ododntogenic keratocyst. Masticatory impairment was not visible after the follow-up period and the treatment outcome was successful.
CONCLUSION
This case report details the presentation, characteristic radiographic findings, and endodontic management of a patient with an extremely rare condition of odontogenic keratocyst. The management involves multidisciplinary approach for the rehabilitation.
Topics: Humans; Male; Adult; Odontogenic Cysts; Odontogenic Tumors; Diagnosis, Differential
PubMed: 38576053
DOI: 10.1186/s13256-024-04473-8 -
Pathology, Research and Practice Jun 2024Odontogenic tumors (OGTs), which originate from cells of odontogenic apparatus and their remnants, are rare entities. Primary intraosseous carcinoma NOS (PIOC), is one...
Odontogenic tumors (OGTs), which originate from cells of odontogenic apparatus and their remnants, are rare entities. Primary intraosseous carcinoma NOS (PIOC), is one of the OGTs, but it is even rarer and has a worse prognosis. The precise characteristics of PIOC, especially in immunohistochemical features and its pathogenesis, remain unclear. We characterized a case of PIOC arising from the left mandible, in which histopathological findings showed a transition from the odontogenic keratocyst to the carcinoma. Remarkably, the tumor lesion of this PIOC prominently exhibits malignant attributes, including invasive growth of carcinoma cell infiltration into the bone tissue, an elevated Ki-67 index, and lower signal for CK13 and higher signal for CK17 compared with the non-tumor region, histopathologically and immunohistopathologically. Further immunohistochemical analyses demonstrated increased expression of ADP-ribosylation factor (ARF)-like 4c (ARL4C) (accompanying expression of β-catenin in the nucleus) and yes-associated protein (YAP) in the tumor lesion. On the other hand, YAP was expressed and the expression of ARL4C was hardly detected in the non-tumor region. In addition, quantitative RT-PCR analysis using RNAs and dot blot analysis using genomic DNA showed the activation of Wnt/β-catenin signaling and epigenetic alterations, such as an increase of 5mC levels and a decrease of 5hmC levels, in the tumor lesion. A DNA microarray and a gene set enrichment analysis demonstrated that various types of intracellular signaling would be activated and several kinds of cellular functions would be altered in the pathogenesis of PIOC. Experiments with the GSK-3 inhibitor revealed that β-catenin pathway increased not only mRNA levels of ankyrin repeat domain1 (ANKRD1) but also protein levels of YAP and transcriptional co-activator with PDZ-binding motif (TAZ) in oral squamous cell carcinoma cell lines. These results suggested that further activation of YAP signaling by Wnt/β-catenin signaling may be associated with the pathogenesis of PIOC deriving from odontogenic keratocyst in which YAP signaling is activated.
PubMed: 38908335
DOI: 10.1016/j.prp.2024.155420 -
Head and Neck Pathology Sep 2023Adenoid ameloblastoma (AdAM) is a frequently recurrent tumor that shows hybrid histological features of both ameloblastoma and adenomatoid odontogenic tumor (AOT). AdAM...
BACKGROUND
Adenoid ameloblastoma (AdAM) is a frequently recurrent tumor that shows hybrid histological features of both ameloblastoma and adenomatoid odontogenic tumor (AOT). AdAM is expected to be classified as a new subtype of ameloblastoma in the next revision of the World Health Organization (WHO) odontogenic tumor classification. However, whether AdAM is a histologic variant of ameloblastoma or AOT remains unclear. To establish a new category, genetic evidence indicating the tumor category is necessary.
METHODS
We present a case of a 23-year-old Japanese woman with AdAM who underwent genetic/DNA analysis for ameloblastoma-related mutation using immunohistochemical staining, Sanger sequencing, and next-generation sequencing (NGS) analyses with reliable clinicopathological evidence.
RESULTS
Immunohistochemical expression of BRAF p.V600E was diffusely positive for both ameloblastoma- and AOT-like components. Sanger sequencing and NGS analyses showed missense mutations in BRAF p.V600E (c.1799T > A), a gene that is commonly altered in ameloblastomas but not in KRAS, another gene associated with AOT.
CONCLUSION
This case report is the first to provide genetic evidence on the ameloblastomatous origin of AdAM with a BRAF p.V600E mutation. A larger series of AdAM groups' molecular testing is needed to aptly classify them and prognosticate the best treatment.
Topics: Female; Humans; Young Adult; Adult; Ameloblastoma; Proto-Oncogene Proteins B-raf; Adenoids; Mutation; Odontogenic Tumors
PubMed: 37093491
DOI: 10.1007/s12105-023-01555-9 -
Cureus Jul 2023Cemento-ossifying fibroma (COF) is a benign odontogenic neoplasm. It is considered an ossifying fibroma with traces of interspersed cementum fragments. Here we present...
Cemento-ossifying fibroma (COF) is a benign odontogenic neoplasm. It is considered an ossifying fibroma with traces of interspersed cementum fragments. Here we present a case report of the occurrence of COF in the maxillary anterior region of an elderly woman. A 61-year-old female reported with a painless, progressive, slow-growing swelling on the upper front jaw region for the past five years. A single, localized, swelling on the anterior region of the maxilla which was non-tender and bony hard in consistency. Radiological examination consisting of orthopantomagram (OPG) and cone-beam computed tomography (CBCT) revealed increased thickness of bone over frontal, parietal and maxilla with alteration of trabecular pattern - cotton wool/ground glass. Serum alkaline phosphatase level was found to be 865 U/l, however, serum calcium level and other routine blood investigations (hemogram) were within normal limits. The above radiological and laboratory findings are more in favour of primary bone pathology and with a biopsy later correlating with histopathological findings; it was diagnosed as COF. Under conscious sedation, surgical excision of the bony mass was done along with extraction of associated teeth. The patient is currently on regular follow-up and planning for a dental prosthesis is in progress.
PubMed: 37457603
DOI: 10.7759/cureus.41799 -
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 -
Molecular Medicine Reports Mar 2024Keratoameloblastoma (KA) and solid variant of odontogenic keratocyst (SOKC) are rare odontogenic lesions, and their relationship and differences are unclear. The present...
Keratoameloblastoma (KA) and solid variant of odontogenic keratocyst (SOKC) are rare odontogenic lesions, and their relationship and differences are unclear. The present study described a case that started as an odontogenic keratocyst (OKC) and transformed to SOKC/KA upon recurrence. Briefly, a 26‑year‑old man presented with swelling in the right cheek and was referred to the Department of Oral and Maxillofacial surgery, Hiroshima University Hospital (Hiroshima, Japan). At the initial visit, unicystic bone permeation was observed extending from the right canine to the molar, maxillary sinus and nasal cavity. After the biopsy, the patient underwent excisional surgery and was diagnosed with OKC. Thereafter, the lesion recurred six times over a period of 13 years and showed different histopathological features from those of the primary lesion, all consisting of numerous cysts with keratinization, which were diagnosed as SOKC/KA. The Ki‑67 positivity rate was ~10%, which was higher than that of the primary lesion, but there was no atypia. Genetic analysis of the recurrent lesion revealed mutations in adenomatous polyposis coli and Kirsten rat sarcoma viral oncogene homolog. This case originated from OKC, and the morphological features of OKC and KA were mixed upon recurrence, supporting the commonality and association between the two. However, multiple mutations different from those of OKC and ameloblastoma were detected, suggesting an association of SOKC/KA with increased proliferative activity and a high recurrence rate.
Topics: Male; Humans; Adult; Ameloblastoma; Odontogenic Cysts; Mutation; Biopsy; Bone and Bones
PubMed: 38275130
DOI: 10.3892/mmr.2024.13168