Odontogenic Myxomas Harbor Recurrent Copy Number Alterations and a Distinct Methylation Signature.

Odontogenic myxoma is a rare, benign, and locally aggressive tumor that develops in the tooth-bearing areas of the jaw. The molecular mechanisms underlying odontogenic myxomas are unknown and no diagnostic markers are available to date. The aim of this study was to analyze DNA methylation and copy number variations in odontogenic myxomas to identify new molecular signatures for diagnostic decision-making. We collected a cohort of 16 odontogenic myxomas from 2006 to 2021 located in the mandible (n = 10) and maxilla (n = 6) with available formalin-fixed paraffin-embedded or fresh frozen tumor tissue from a biopsy or resection material. Genome-wide DNA methylation and copy number variation data were generated from 12 odontogenic myxomas using the Illumina Infinium Methylation EPIC array, interrogating >850,000 CpG sites. Unsupervised clustering and dimensionality reduction (Uniform Manifold Approximation and Projection) revealed that odontogenic myxomas formed a distinct DNA methylation class. Copy number profiling showed recurrent whole-chromosome gains (trisomies) of chromosomes 5, 8, and 20 in all cases, and of chromosomes 10, 12, and 17 in all except one case. In conclusion, odontogenic myxomas harbor recurrent copy number patterns and a distinct DNA methylation profile, which can be used as an additional diagnostic tool in the appropriate clinical and radiologic context. Further research is needed to explain the genetic mechanisms caused by these alterations that drive these locally aggressive neoplasms.

Clinical course and vascular endothelial growth factor signaling system expression in maxillary angiosarcoma: A case report.

Maxillary angiosarcoma, an aggressive tumor derived from vascular endothelial cells, is very rare. Recently, antivascular endothelial growth factor (VEGF) therapies have attracted considerable attention. We describe the clinical course of a patient with maxillary angiosarcoma and discuss the expression of VEGF signaling molecules assessed via immunohistological analysis. An 81-year-old man presented with an aggressive tumor in the left maxillary sinus. Biopsy revealed atypical nuclear cell proliferation, and the tumor was suspected to be a sarcoma. The maxillary malignancy was treated using a multidisciplinary approach with a combination of surgery, radiotherapy, and regional chemotherapy. Examination of the specimen obtained in the first surgery revealed maxillary angiosarcoma, found to be positive for CD31, while negative for CD34, D2-40, and factor Ⅷ. Although no pathological residual tumor was observed after the planned wide surgery, cervical lymph node and distant metastases occurred. The patient died 24 months after the first surgery. Staining revealed VEGF receptor (VEGFR) 1, VEGFR2, phosphorylated Ak strain transforming, mitogen-activated protein kinase, and signal transducer and activator of transcription 3 positivity. Although our findings do not indicate that anti-VEGF therapy is beneficial for treating maxillary angiosarcomas, we found that VEGFR signaling pathways were activated in maxillary angiosarcomas similar to angiosarcomas originating at other sites. Herein, we report a case of maxillary angiosarcoma, focused on VEGFR and signaling pathway activation. To our knowledge, this is the first report to describe VEGFR system immunostaining findings in maxillary angiosarcoma.

Synchronous cemento-ossifying fibromas: a systematic review.

BACKGROUND: This systematic review aimed to incorporate published data regarding synchronous cemento-ossifying fibromas (COF), with an analysis of their demographic and clinicopathological characteristics. MATERIAL AND METHODS: Case reports and case series of synchronous COF were searched in PubMed, Web of Science, Scopus, EMBASE, and LILACS according to the PRISMA (2020) statement. Also, a manual search was carried out and the grey literature was assessed. A descriptive statistical analysis was performed. RESULTS: Nineteen studies comprising 20 cases of synchronous COF were included. The mean age at diagnosis was 35 years (±13.8), with a predominance of female patients (n=12/60%). In 13 cases (65%) the mandible and the maxilla were affected simultaneously. In two cases (10%) first-degree relatives (parents or siblings) had been previously diagnosed with COF. The diagnostic hypotheses were reported in 8 cases (40%), with florid cemento-osseous dysplasia, ameloblastic fibroodontoma, calcifying cystic odontogenic tumor, osteoma and cementoblastoma being cited in the differential diagnosis. Among the cases with details about management (n=17), eleven were treated by surgical enucleation and/or excision (64.7%). Follow-up was provided for 10 cases (50%), with a mean period of 44.7±62.19 months. Recurrence occurred in three of informed cases. CONCLUSIONS: Synchronous manifestation of COF is rare. Female patients around the 3rd decade of life are more commonly affected. Bilateral involvement of the mandible and maxilla is the most common clinical presentation.

Solitary intraosseous neurofibroma of the oral cavity: rare localization in the maxilla.

BACKGROUND: Neurofibroma is a common benign tumor of neuronal origin that can occur as a solitary tumor or as a component of the generalized syndrome of neurofibromatosis. Neurofibromas are primarily located in the subcutaneous soft tissues and commonly involve extra-oral sites. Solitary intraosseous neurofibromas of the oral cavity are infrequent, with occurrences in the maxilla being exceedingly rare. CASE PRESENTATION: A 22-year-old male patient presented with an asymptomatic mass in the maxilla. Cone-beam computed tomography revealed a round, well-outlined, radiolucent lesion with expansive growth. The neoplasm with the complete capsule was completely removed and confirmed as a neurofibroma based on histopathological and immunohistochemical findings. The reported cases of solitary intraosseous neurofibromas located in the maxilla published in the English literature were compiled to assist in the diagnosis of solitary intraosseous neurofibromas of the maxilla. Nine months after the surgery, there were no signs of tumor recurrence or malignant transformation. CONCLUSIONS: This report emphasizes that rare locations of neurofibromas, such as solitary intraosseous neurofibromas in the maxilla, typically demonstrate nonspecific clinical and radiological features. Clinicians should consider solitary intraosseous neurofibromas as possible differential diagnoses and recognize the histopathological and immunohistochemical features to confirm the correct diagnosis. A longer follow-up period is required because of the potential for local recurrence and malignant transformation of these tumors.

Neck dissection of cN0 maxillary oral squamous cell carcinoma: A study based on SEER database.

OBJECTIVE: For patients with clinical nodal-negative (cN0) maxillary oral squamous cell carcinoma (MOSCC), neck dissection (ND) and clinical observation are the main two management strategies for the neck. However, the indications corresponding to these two options remain controversial. This study aimed to elucidate the clinical factors affecting ND treatment and to identify clinical characteristics of the population that may benefit from ND based on a retrospective analysis of cN0 MOSCC patient data from the Surveillance, Epidemiology, and End Results (SEER) database. METHODS: 8846 MOSCC patients were identified in the SEER database from 2000 to 2020. The Kaplan-Meier method was utilized to examine overall survival (OS) and disease-specific survival (DSS), while the hazard ratio (HR) was estimated using the stepwise multivariate Cox regression model. Furthermore, multi-subgroup analyses of DSS and OS were performed to compare ND and No ND. RESULTS: We included 2,512 cN0 MOSCC patients. Basic survival analysis and Cox regression modeling showed that ND was an independent prognostic factor that promoted DSS and OS. Additional subgroup analyses revealed that the primary site and T-stage might influence the efficacy of ND modality. Moreover, patients with T3/T4 stage of upper gingival squamous cell carcinoma (UGSCC) (DSS p = 0.009, OS p = 0.004), hard palate squamous cell carcinoma (HPSCC) (DSS p = 0.001, OS p < 0.001), and soft palate squamous cell carcinoma (SPSCC) (p = 0.029) showed a better survival benefit with ND in OS and DSS. Nonetheless, no differences were observed in OS and DSS between ND and No ND at the T1/T2 stage of the abovementioned primary tumor sites. Additionally, the DSS outcomes for T1/T2 stage upper lip squamous cell carcinoma (ULSCC) patients were significantly worse in the ND group than in the No ND group (p = 0.018). However, no significant differences were noted in OS (p = 0.140) as well as OS (p = 0.248) and DSS (p = 0.627) for T1/T2 and T3/T4 patients, respectively. CONCLUSION: Active surveillance might be a feasible strategy for managing all T-staged ULSCC as well as early-stage (T1/T2) UGSCC, SPSCC, and HPSCC, provided regular and meticulous follow-up is performed. Hence, concurrent ND is recommended for patients with intermediate to advanced (T3/T4) stage UGSCC, SPSCC, and HPSCC.

Ameloblastic fibrosarcoma of the maxilla arising in an old woman, a rare case report and literature review.

BACKGROUND: Ameloblastic fibrosarcoma (AFS) is a rare malignant odontogenic tumor, commonly occurring in young adults and typically affecting the mandibular region. We report an exceptionally rare and highly atypical case of AFS in an elderly female patient originating from the maxillary bone. CASE PRESENTATION: A 66-year-old woman was admitted with a two-week history of a lump in her left upper molar. CT scans suggested a cyst in the maxillary bone. An incisional biopsy revealed a spindle cell neoplasm. MRI showed abnormalities in the left maxilla, indicating a possible tumorous lesion. The patient underwent a subtotal maxillectomy, wide tumor excision, intraoral epithelial flap transplantation, and dental extraction. Histology identified atypical tumor cells with visible mitotic figures. Immunohistochemistry showed negative for PCK and CD34 expression, but positive for Vimentin and SMA expression. The Ki-67 proliferation index ranged from 30 to 50%. These findings suggested a potentially malignant soft tissue tumor in the left maxilla, leaning towards a diagnosis of AFS. The patient received postoperative radiotherapy. There was no recurrence during the six-month follow-up. CONCLUSION: Based on repeated pathological evidence, we report a rare case of an elderly female with AFS originating from the maxillary bone. Surgery and postoperative radiotherapy resulted in a favorable outcome.

Central Myoepithelioma of the Maxilla.

Myoepithelioma is a benign salivary gland tumor. Central myoepitheliomas are very rare. The aim of this report was to describe a case of maxillary myoepithelioma. A 14-year-old female patient presented with an multilocular lesion in the anterior maxilla, with nearly 8 months of duration. The lesion was asymptomatic, and the patient's dental history was unremarkable. The diagnostic hypothesis was an odontogenic tumor. Biopsy specimen consisted of nests of plasmacytoid cells in a myxoid stroma without duct formation. No cellular atypia or bone and cartilage formation were noted. The neoplastic cells were positive for Pan-cytokeratin, S100, CK7, and CK8. The final diagnosis was myoepithelioma. The patient was treated by surgical excision followed by bone curettage, and no signs of recurrence were found after 8 years of treatment.

[Komplexes Odontom im Unterkieferfrontzahnbereich bei einer 16-jährigen Patientin - Diagnostik, Therapie und Nachsorge].

Odontome gelten zusammen mit den Amelo- blastomen als die häufigsten odontogenen Tumoren. Sie entstehen während der embryo- nalen Zahnkeimentwicklung durch fehlerhaft differenziertes Keimgewebe und werden daher auch als Hamartome bezeichnet. Somit sind sie also strenggenommen keine klassischen Neoplasien.

A giant peripheral ossifying fibroma of the maxilla with extreme difficulty in clinical differentiation from malignancy: a case report and review of the literature.

BACKGROUND: Peripheral ossifying fibroma is a nonneoplastic inflammatory hyperplasia that originates in the periodontal ligament or periosteum in response to chronic mechanical irritation. Peripheral ossifying fibroma develops more commonly in young females as a solitary, slow-growing, exophytic nodular mass of the gingiva, no more than 2 cm in diameter. While various synonyms have been used to refer to peripheral ossifying fibroma, very similar names have also been applied to neoplastic diseases that are pathologically distinct from peripheral ossifying fibroma, causing considerable nomenclatural confusion. Herein, we report our experience with an unusual giant peripheral ossifying fibroma with a differential diagnostic challenge in distinguishing it from a malignancy. CASE PRESENTATION: A 68-year-old Japanese male was referred to our department with a suspected gingival malignancy presenting with an elastic hard, pedunculated, exophytic mass 60 mm in diameter in the right maxillary gingiva. In addition to computed tomography showing extensive bone destruction in the right maxillary alveolus, positron emission tomography with computed tomography revealed fluorodeoxyglucose hyperaccumulation in the gingival lesion. Although these clinical findings were highly suggestive of malignancy, repeated preoperative biopsies showed no evidence of malignancy. Since even intraoperative frozen histological examination revealed no malignancy, surgical resection was performed in the form of partial maxillectomy for benign disease, followed by thorough curettage of the surrounding granulation tissue and alveolar bone. Histologically, the excised mass consisted primarily of a fibrous component with sparse proliferation of atypical fibroblast-like cells, partly comprising ossification, leading to a final diagnosis of peripheral ossifying fibroma. No relapse was observed at the 10-month follow-up. CONCLUSIONS: The clinical presentation of giant peripheral ossifying fibromas can make the differential diagnosis from malignancy difficult. Proper diagnosis relies on recognition of the characteristic histopathology and identification of the underlying chronic mechanical stimuli, while successful treatment mandates complete excision of the lesion and optimization of oral hygiene. Complicated terminological issues associated with peripheral ossifying fibroma require appropriate interpretation and sufficient awareness of the disease names to avoid diagnostic confusion and provide optimal management.

Surgical Resection and Reconstruction of Ameloblastoma: A 13-Year Retrospective Review.

BACKGROUND: Ameloblastoma is a locally aggressive, benign tumor presenting in the maxilla and mandible prone to recurrence. Resection greatly limits recurrence; however, reconstruction becomes critical to preserve patients' functionality and esthetics. PURPOSE: The aim of this study was to describe surgical resection and reconstructive approaches in the treatment of ameloblastoma and compare clinical outcomes to conservative methods of treatment. STUDY DESIGN, SETTING, SAMPLE: A retrospective case series was completed through analysis of patient records. The study population was composed of patients treated for ameloblastoma at the Royal Brisbane Hospital (Queensland, Australia) in the Oral and Maxillofacial Surgery Unit from January 1, 2008, to December 31, 2020. Patients without histological confirmation of intraosseous ameloblastoma were excluded from the study sample. PREDICTOR VARIABLE: Not applicable. MAIN OUTCOME VARIABLE(S): The primary outcome variable was time to recurrence. Secondary outcome variables included any surgical complications incurred. COVARIATES: The covariate variables collected included age at diagnosis/treatment, gender, ethnicity, location of lesion and site(s) of involvement, tumor extent, alveolar expansion, histopathological growth pattern, and soft tissue involvement. ANALYSES: Descriptive statistics were computed for each study variable. RESULTS: A total of 48 cases of histologically confirmed ameloblastoma were identified (41 mandibular, 7 maxillary) involving 50 excisional operations (44 resections, 6 enucleations). Of these cases, 44 were followed up > 12 months, with a mean length of follow-up time of 65.6 months. No recurrence was detected for resected lesions. One enucleated lesion recurred at 25 months. Thirty-seven reconstructive procedures were undertaken, including 32 immediate free flaps. All reconstructive flaps and grafts survived, and no major complications were recorded. CONCLUSION AND RELEVANCE: Resection of ameloblastoma limits recurrence and should be considered curative. Immediate microvascular free flap reconstruction of maxillary and mandibular defects from resection of ameloblastoma is safe and predictable.

Oncologic and functional results between sentinel lymph node biopsy and elective neck dissection in cT1/2N0 maxillary squamous cell carcinoma.

OBJECTIVE: To evaluate the oncologic safety and quality of life associated with the use of sentinel lymph node biopsy (SLNB) as compared to elective neck dissection (END) in patients with cT1/2N0 maxillary squamous cell carcinoma. METHODS: This study constituted a retrospective analysis of consecutively treated patients who underwent SLNB or END, with data collected prospectively. We analyzed the impact of the different neck procedures on regional control and disease-specific survival via the Cox model. Patients in both groups completed the University of Washington Quality of Life questionnaire. RESULTS: We included a total of 130 patients, with 47 receiving SLNB. In all cases, the sentinel lymph node could be identified, and of these, 5 had a positive result, yielding a sensitivity of 83.3 %, a specificity of 100 %, a false negative rate of 16.7 %, and a negative predictive value of 97.6 %. The sensitivity, specificity, false negative rate, and negative predictive value of END in detecting occult metastasis were 64.3 %, 100 %, 35.7 %, and 93.2 %, respectively. In comparison to END after propensity score matching, SLNB exhibited no significant difference in its effects on regional control (p = 0.519, HR: 1.05, 95 % CI: 0.52-1.93) and disease-specific survival (p = 0.634, HR: 1.22, 95 % CI: 0.53-1.99). Patients in SLNB group showed significantly higher mean scores of shoulder and taste domains at 3 months, 6 months, and 12 months postoperatively compared to those in END group. CONCLUSION: SLNB could act as a viable alternative to END in cT1/2N0 maxillary squamous cell carcinoma with comparable prognosis and better quality of life.

Case of metastatic clear cell odontogenic carcinoma with response to chemoimmunotherapy.

Our patient initially presented with 6 months of left jaw pain and gingival bleeding, leading to the discovery of a radiolucent left maxillary mass on dental evaluation. A biopsy confirmed clear cell odontogenic carcinoma, and the patient was treated with definitive surgery and radiation for localised disease. Unfortunately, the patient was found to have pulmonary metastases 3 months after initial management and was subsequently treated with a combination of cytotoxic chemotherapy and immunotherapy with a partial response. To our knowledge, this is the first case demonstrating the successful use of chemoimmunotherapy in metastatic clear cell odontogenic carcinoma.

Central odontogenic fibroma: report of 29 cases in a Korean population with tooth management.

This study presents the behavioural findings of central odontogenic fibroma (COF) in a specific ethnic group, analysing treatment methods and demonstrating how involved teeth should be managed in detail. Clinical, radiographic, and histological findings were gathered for 29 patients who visited our clinic, with all patients' data carefully examined by radiologists and reviewed microscopically. The cohort comprised 29 patients, with 16 females and 13 males, having a mean (SD) age of 33.1 (16.0) years. Among them, 19 patients were affected in the maxilla, with 15 showing anterior preference, and palatal depression was observed in six patients. Tooth resorption was evident in 15 patients, while 10 patients showed tooth displacement. Within the cohort, 13 patients underwent tooth extraction and resection, while the remaining 16 did not have teeth extracted. Notably, there was no significant difference in recurrence observed between these two groups. This study represents the largest study to date of COF within a single ethnic group and institution. A subset of cases exhibited noteworthy features of COF. However, intriguingly, despite these characteristics, the preservation of contiguous teeth did not demonstrate a significant impact on recurrence rates.

A Variant of Gorlin-Goltz Syndrome with Synchronous Malignant and Multiple Benign Lesions of the Jaws - A Case Report.

INTRODUCTION: Although numerous syndromic and non-syndromic odontogenic lesions of the jaws have been documented in the literature, there are very few cases of simultaneous benign and malignant jaw lesions. PATIENT CONCERNS: We present a case of right maxillary squamous cell carcinoma along with several benign odontogenic cystic lesions of the jaws and skeletal abnormalities that meet the criteria for Gorlin-Goltz syndrome. TAKEAWAY LESSONS: With a review of the literature, the specifics of management and follow-up are discussed.