{"title":"Epithelioid sarcoma metastasis to the oral cavity","authors":"Khanh Trinh, Elizabeth Philipone","doi":"10.1016/j.oooo.2025.04.044","DOIUrl":"10.1016/j.oooo.2025.04.044","url":null,"abstract":"<div><div>Epithelioid sarcoma (ES) is a rare malignant neoplasm of mesenchymal origin first described by Enzinger in 1970. This entity is known for its clinical aggressive behavior and overall poor prognosis. ES often presents in the extremities of adolescents and young adults and is exceedingly rare in the head and neck region, especially the oral cavity. We present a case of epithelioid sarcoma with metastasis to the oral cavity (maxillary gingiva and mandible). The tumor is composed of predominantly epithelioid cells admixed with scattered spindle cells. Both populations of cells display hyperchromasia and pleomorphism. The tumor cells are positive for MCK, CK8, EMA, vimentin, CD34, and negative for S100, CD45, and CD31.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e81"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Metastasis of benign pleomorphic adenoma","authors":"Monica B. Kowalski, Elizabeth Philipone","doi":"10.1016/j.oooo.2025.04.048","DOIUrl":"10.1016/j.oooo.2025.04.048","url":null,"abstract":"<div><div>Metastasizing pleomorphic adenoma (MPA) of salivary glands are rare tumors that inexplicably metastasize to distant sites and display benign histological features in both the primary tumor as well as in the metastatic deposits. This metastasis of benign PA is most often seen after having previous local recurrence (either single or multiple). The most common metastatic sites are reported to be bone, lung, and cervical lymph nodes. Currently, no histologic or molecular parameters exist that can predict the development of metastasis in these neoplasms. This case reviews the current literature on MPA and describes a 73-year-old male with original diagnosis of benign PA from the left parotid gland with metastasis to the liver 8 years later without local recurrence.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e82"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jessie Fuoco , Michelle Huang , Najmeh Esfandiari , Christina MacMillan , Aiman Ali , Kanan Dave , Michael Freilich , Marco Magalhaes
{"title":"SMARCB1 (INI1)-deficient sinonasal carcinoma manifesting as an oral lesion: a report of 2 cases","authors":"Jessie Fuoco , Michelle Huang , Najmeh Esfandiari , Christina MacMillan , Aiman Ali , Kanan Dave , Michael Freilich , Marco Magalhaes","doi":"10.1016/j.oooo.2025.04.051","DOIUrl":"10.1016/j.oooo.2025.04.051","url":null,"abstract":"<div><div>Sinonasal carcinomas represent a rare histologically and molecularly diverse group of tumors of the head and neck cancers with an annual worldwide incidence of approximately 1 case per 100,000 inhabitants. Since the first description of a unique type of SMARCB1-deficient sinonasal carcinoma, less than 200 cases have been identified. SMARCB1-deficient sinonasal carcinomas can involve the sinonasal region with invasion into the orbits and intracranium, often leading to very poor prognosis. In view of its rarity and lack of reported case series, it is challenging to understand and characterize diagnostic features and disease behavior that could ultimately improve outcomes for these patients. Here, we present two cases of SMARCB1-deficient sinonasal carcinomas initially presenting as progressive radiolucent lesions associated with maxillary dentition and intraoral mucosal lesions. Both cases involved destruction of the left anterior maxilla that involve the maxillary sinus. The presented cases highlight a potential unknown pattern of invasion of this rare entity and poses a challenge for head and neck surgeons, dentists, and pathologists due to the potential overlapping features with odontogenic and nonodontogenic lesions. These cases highlight the importance of including SMARCB1-deficient sinonasal carcinoma in the differential diagnosis of destructive anterior maxillary entities and a multidisciplinary team for optimal diagnosis and management for such entity.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Pages e82-e83"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zohreh Khavandgar , Blake M. Warner , Armando Filie , Sharon Savage , Neelam Giri
{"title":"Noninvasive technique of detection of squamous cell carcinoma in Fanconi anemia","authors":"Zohreh Khavandgar , Blake M. Warner , Armando Filie , Sharon Savage , Neelam Giri","doi":"10.1016/j.oooo.2025.04.024","DOIUrl":"10.1016/j.oooo.2025.04.024","url":null,"abstract":"<div><h3>Introduction</h3><div>Individuals with Fanconi anemia (FA) have an exceptionally high risk of squamous cell carcinoma (SCC) and predominantly affects the tongue and oral mucosa. FA is caused by biallelic germline pathogenic variants in one of >22 genes (e.g., <em>FANCA, FANCD1</em>) involved in the FA/BRCA DNA repair pathway; dysfunction in this pathway portends a 20-50-fold increased risk of SCC. Hematopoietic cell transplantation for bone marrow failure has extended the survival of FA patients by ∼20 years with patients living into their 40s. Therefore, regular monitoring for SCC is recommended for FA starting at a young age. Early detection and treatment of cancers can improve outcomes and increase the chances of survival.</div></div><div><h3>Materials and Methods</h3><div>We designed a longitudinal study (NCT00027274) to understand the natural history of oral premalignant lesions (OPL) and facilitate interception of SCC in individuals with FA. Individuals (<em>N</em> = 200; >8 years of age) will be enrolled over 5 years and followed prospectively for 10 years. Subjects will receive annual comprehensive cancer screening including digital intraoral scanning and oral brush biopsy to examine for evidence of oral epithelial dysplasia and oral SCC, and excisional biopsy of OPLs when warranted. Prospective cytopathological findings will be correlated with changes in DNA ploidy and histopathological grade longitudinally to determine the sensitivity and specificity of oral brush cytology and DNA cytometry in predicting clinically actionable dysplasia and SCC.</div></div><div><h3>Results</h3><div>The primary outcome measure of the study will define the success of oral screening in characterizing the natural history of OPLs. Secondary exploratory outcome measures will help to identify predictive biomarkers of oral SCC development and possibly help risk stratify patients who may require invasive, oftentimes repeated, biopsy procedures.</div></div><div><h3>Conclusions</h3><div>This is longitudinal natural history study will help us to determine the utility of brush biopsy to identify oral dysplasia and SCC in FA patients.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Pages e74-e75"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Atypical vascular neoplasm with TFE3 immunohistochemical expression, suggestive of epithelioid hemangioendothelioma","authors":"Ronald Faram , Sepideh Asadbeigi","doi":"10.1016/j.oooo.2025.04.008","DOIUrl":"10.1016/j.oooo.2025.04.008","url":null,"abstract":"<div><div>Epithelioid hemangioendothelioma (EHE) is a rare tumor of the head and neck region which was first described by Weiss and Enziger in 1982. It was considered an intermediate malignant potential tumor but currently, the WHO classifies it as a malignant neoplasm. The common molecular driver of the neoplasm is a gene fusion of WWTR1::CAMTA1. However, a much less common subset of cases display YAP1::TFE3 gene fusion. Clinically, the lesion presents as a slow-growing mass with a tendency for regional lymph node metastasis. Histopathology for EHE can share features with other vascular lesions both benign and malignant lesions ranging from epithelioid hemangioma to epithelioid angiosarcoma. Immunohistochemical markers are not always helpful when determining vascular lesions from each other. Vascular lesions stain positive with CD31, and ERG which is helpful in distinguishing this tumor from other epithelioid morphology neoplasms. This case presents a 42-year-old male with a 4-month history of right buccal mucosa swelling. The lesion was thought to be excised at original biopsy but in approximately 2 weeks recurred with rapid growth. The biopsy showed a vascular lesion with an epithelioid morphology, cellular pleomorphism, increased mitoses, endothelial hyperplasia, and an infiltrate of eosinophils. A confounding morphology with a concerning rapid growth rate. IHC testing was positive for CD31, ERG, and TFE3 suggesting an epithelioid hemangioendothelioma but molecular tests are still pending as of the writing of this abstract.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e69"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144672095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Scott Davis , Dianne Torrence , Lucio Pereira , John Fantasia
{"title":"RREB1::MRTFB fusion-positive extra-glossal ectomesenchymal chondromyxoid neoplasm of the palate","authors":"Scott Davis , Dianne Torrence , Lucio Pereira , John Fantasia","doi":"10.1016/j.oooo.2025.04.066","DOIUrl":"10.1016/j.oooo.2025.04.066","url":null,"abstract":"<div><h3>Introduction</h3><div>Ectomesenchymal chondromyxoid tumor (EMCMT) is a rare benign tumor that typically occurs in the anterior tongue. This tumor is characterized by the <em>RREB1::MTRFB</em> (formerly <em>RREB1::MKL2</em>) fusion. A subset of cases has the <em>EWSR1</em> gene rearrangement. The histogenesis of this tumor is unproven but thought to originate from either ectomesenchymal cells of the neural crest or myoepithelial cells. Recently, at least 10 molecularly confirmed cases of extra-glossal mesenchymal neoplasms have been reported with the <em>RREB1::MTRFB</em> fusion; the majority occurring in the head and neck region in patients with a median age of 36 years. These tumors express a wide range of morphological features.</div></div><div><h3>Case Findings</h3><div>An 80-year-old man presented with a painless 3 × 2.5 cm anterior palatal mass of unknown duration. The lesion was completely excised and submitted for pathological analysis. On gross examination, the bosselated cut surface was yellow-tan, rubbery, with zones having a gelatinous consistency.</div></div><div><h3>Results</h3><div>The specimen was comprised of a submucosal, unencapsulated, lobulated neoplasm. The tumor was variably cellular with a chondromyxoid stroma and no discrete architectural arrangement. The cells were spindled to stellate with ovoid nuclei and amphophilic to basophilic cytoplasm with rare mitoses. Immunohistochemically the tumor cells were positive for SMA and S100 (patchy). The cells did not stain with AE1.3, CD34, CD56, chromogranin, desmin, GFAP, MUC4, SOX-10, and synaptophysin. Genetic sequencing confirmed a <em>RREB1::MTRFB</em> fusion, with exon 8 of <em>RREB1</em> fused to exon 11 of <em>MRTFB.</em></div></div><div><h3>Conclusions</h3><div>These extra-glossal neoplasms with <em>RREB1::MTRFB</em> fusions are characterized by morphological and immunohistochemical variability. This case report adds to the evidence for extra-glossal sites of this tumor and highlights the variable demographics and morphology reported to date. Cases with molecular profiling confirm the phenotypic variation among these <em>RREB1::MKL2</em> fusion tumors, thus refining our current understanding of these chondromyxoid neoplasms.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e88"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Manmeet Sandhu, Kamran Awan, Shilpa Bhandi, Frank Licari, Shankargouda Patil
{"title":"Decoding and targeting genes regulating the malignant potential of oral proliferative leukoplakia through a sequential computational approach","authors":"Manmeet Sandhu, Kamran Awan, Shilpa Bhandi, Frank Licari, Shankargouda Patil","doi":"10.1016/j.oooo.2025.04.060","DOIUrl":"10.1016/j.oooo.2025.04.060","url":null,"abstract":"<div><h3>Introduction</h3><div>Oral proliferative leukoplakia (OPL) is a multifocal aggressive form of oral potentially malignant disorders (OPMD), carrying a higher malignant potential than solitary oral leukoplakia (OL).</div></div><div><h3>Materials and Methods</h3><div>The present study used a sequential computational approach to compare the molecular profile of OPL and OL to decode the genes responsible for augmenting the malignant potential of OPL. The analysis included integrated gene expression profiling, protein interaction network, molecular interconnectivity, survival assessment, and molecular docking with the existing anti-cancer drugs.</div></div><div><h3>Results</h3><div>OPL showed 159 genes that were distinctly upregulated compared to OL. Among these 13 genes were found to be associated with oral squamous carcinoma (OSCC). Further construction of a protein network from the 13 gene-encoded proteins activated diverse cancer-related pathways. Simultaneously, the expression of these 13 genes altered the survival rate in OSCC patients. Screening of 241 anti-cancer drugs against these 13 regulators, revealed the 3 most effective inhibitors.</div></div><div><h3>Conclusion</h3><div>The study decoded the key regulatory genes responsible for augmenting the malignant potential of OPL. Further, a significant association was observed between the decoded genes and the survival of OSCC patients. Anti-cancer medications capable of inhibiting these key regulators were identified. The application of the 3 most effective inhibitors could potentially prevent the malignant transformation of OPL.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e86"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alberto Peraza Labrador , Luciano Matos , Victoria Woo
{"title":"Intraosseous schwannoma of the jaws: a case report and systematic review","authors":"Alberto Peraza Labrador , Luciano Matos , Victoria Woo","doi":"10.1016/j.oooo.2025.04.065","DOIUrl":"10.1016/j.oooo.2025.04.065","url":null,"abstract":"<div><h3>Introduction</h3><div>Intraosseous schwannoma (IS), also known as intraosseous neurilemoma, is a benign peripheral nerve sheath tumor postulated to arise de novo or from nerve fibers in pre-existing nutrient canals. ISs are uncommon and comprise less than 1% of neoplasms originating in bone. We herein describe a 66-year-old female who presented with a 4-month history of mandibular pain and pressure. A panoramic radiograph and cone beam computer tomography (CBCT) imaging revealed a well-defined, unilocular radiolucency of the anterior mandible that caused cortical thinning but no evidence of perforation. An incisional biopsy showed a benign spindle cell neoplasm with histologic features of a schwannoma. The tumor cells were strongly reactive for S-100. Complete enucleation was subsequently performed, and the patient is without evidence of disease at 8 months.</div></div><div><h3>Materials and Methods</h3><div>A systematic review of reported cases was undertaken to evaluate the demographics, clinical features, and treatment of ISs. The review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Eligibility criteria included publications having sufficient clinical and histological information to confirm the diagnosis.</div></div><div><h3>Results and Conclusions</h3><div>A total of 83 publications and 93 cases were included in the review with the following findings: predominance in females (57%); average age of occurrence of 37.3 years (range of 8-77 years); mean size of 3.6 cm; sites of involvement—mandibular body (37.6%), mandibular body and ramus (18.3%), and anterior mandible (18.3%). The predominant clinical sign was swelling (69.9%), and the majority of patients were asymptomatic (53.8%). The most common radiographic presentation was a radiolucency (94.6%) with well-defined borders (72%). All cases were treated surgically, with the average follow-up interval of 22.9 months. A 5.4% recurrence rate was reported, and recurrence as late as 6 years post-treatment has been documented, suggesting the need for long-term follow-up.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Pages e87-e88"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Chondromyxoid fibroma of the mandible: report of a case","authors":"Jennie Ison","doi":"10.1016/j.oooo.2025.04.032","DOIUrl":"10.1016/j.oooo.2025.04.032","url":null,"abstract":"<div><h3>Introduction</h3><div>The chondromyxoid fibroma is an exceedingly rare benign tumor, representing less than 1% of all bone tumors. It has a slight male preponderance; males are affected approximately 1.5 times more often than females. Though typically affecting patients during the second and third decades of life, reports of patients who are 50 years and older do exist. With a distinct predilection for the metaphyseal regions of the long bones of the lower extremities, the chondromyxoid fibroma has also commonly been reported in the small bones of the feet and the ilium. Much less common are lesions of the craniofacial bones, ribs, spine, and short tubular bones of the hands and feet. Herein, a case of chondromyxoid fibroma of the mandible is reported.</div></div><div><h3>Case Report</h3><div>A multilocular radiolucent lesion was noted in the left mandible of a 48-year-old male, and submitted to the UKCD Oral Pathology Biopsy service with a clinico-radiographic differential diagnosis including ameloblastoma and odontogenic keratocyst. Upon histopathologic examination, a fragmented, but pseudolobulated mass composed of myxomatous and chondroid areas with intervening zones of hypercellular mononuclear tissue containing sparse multinucleated giant cells, was appreciated. The myxoid areas contained both plump and stellate spindled cells at the periphery. Immunohistochemistry for MDM2 was negative, essentially excluding the possibility of a low-grade central osteosarcoma.</div></div><div><h3>Conclusions</h3><div>Presentation of this case represents a significant addition to the literature of this rare entity occurring in a distinctly uncommon location, and highlights this entity as a consideration in the histopathological differential diagnosis of myxoid lesions of the craniofacial bones.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e77"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}