Oral Surgery Oral Medicine Oral Pathology Oral Radiology最新文献

{"title":"DEK::AFF2 fusion-associated papillary nonkeratinizing squamous cell carcinoma of the sinonasal tract and middle ear: a case report and review of the literature","authors":"Sara Sternbach ,&nbsp;Elizabeth Knott ,&nbsp;Sarah Franklin ,&nbsp;Stephen Roth ,&nbsp;Jian Yi Li ,&nbsp;Judd Fastenberg","doi":"10.1016/j.oooo.2025.04.025","DOIUrl":"10.1016/j.oooo.2025.04.025","url":null,"abstract":"<div><h3>Introduction</h3><div>Nonkeratinizing squamous cell carcinoma (NKSCC) with the <em>DEK::AFF2</em> fusion is a new entity that was recently added to the 2022 5th edition of the WHO Classification of Tumors of the Head and Neck. This rare malignancy of the sinonasal tract, skull base, and middle ear can be deceptively bland and potentially mistaken as a sinonasal papilloma. We describe a case characterized by multifocal disease, that was initially interpreted as benign.</div></div><div><h3>Materials and Methods</h3><div>A 22-year-old female with no significant past medical history presented in January 2022 with right-sided nasal congestion and epistaxis. Initial biopsy and subsequent resection resulted in an initial diagnosis of inverted sinonasal papilloma. Three months post-op, the patient returned with continued nasal epistaxis, left-side hearing impairment with otalgia, and left facial weakness. CT scan demonstrated rapid recurrence of the tumor with a new finding of involvement of the middle ear and temporal bone.</div></div><div><h3>Results</h3><div>Microscopic examination of the recurrence revealed a nonkeratinizing basaloid epithelial process, exhibiting a papillary morphology with acute and chronic inflammation, and necrosis. Lesional epithelium was positive for cytokeratins AE1/AE3, CAM5.2, p63, SMARCB1/INI1 (retained), SMARCA4/BGR1 (retained), but negative for high-risk HPV. PD-L1 combined positive score was 5. Molecular analysis identified a <em>DEK::AFF2</em> fusion transcript. A diagnosis of <em>DEK::AFF2</em> fusion-associated papillary NKSCC of the sinonasal tract and middle ear was rendered.</div></div><div><h3>Conclusion</h3><div>This case exhibited the characteristic bland morphology that commonly leads to a misdiagnosis of a benign process. Immunohistochemical stains and molecular characterization resulted in the final diagnosis of <em>DEK::AFF2</em> fusion NKSCC, a rare and aggressive neoplasm with potential for locoregional nodal and distant metastasis. Currently, consistent effective therapeutic modalities have not been identified. However, an isolated case report suggested response to treatment with an immune checkpoint inhibitor.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e75"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670741","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":"Visualizing trends in sign-out diagnoses at the LSU oral pathology biopsy service from 2012 to 2022","authors":"John Frazier,&nbsp;Molly Rosebush,&nbsp;Kitrina Cordell","doi":"10.1016/j.oooo.2025.04.027","DOIUrl":"10.1016/j.oooo.2025.04.027","url":null,"abstract":"<div><h3>Introduction</h3><div>Data visualization is a powerful tool to examine large datasets for trends over time. Unlike tabulated data, visualization techniques allow large amounts of data to be comprehended more easily using the power of the human visual system. In this presentation, data visualization will be used to assesses trends in oral biopsy sign-out diagnoses over the years 2012-2022.</div></div><div><h3>Methods</h3><div>The sign-out diagnoses for 31,100 specimens were obtained from the LSU oral pathology biopsy service database. This study has IRB approval. The data was cleaned and grouped by year into: Benign vs malignant, Benign soft tissue neoplasm, Bone lesions, Epithelial dysplasia, Epithelial lesions, Foreign bodies, Odontogenic cysts, Odontogenic neoplasms, Malignancies, Nonodontogenic cysts, Pigmented lesions, Salivary gland lesions, Salivary gland neoplasms, and Vascular lesions. Within each group, the most common diagnoses were kept as distinct entities. Less common diagnoses were then grouped as “Other.” For each group, stacked bar graphs by year and diagnosis were generated. Visualizations were done using R.</div></div><div><h3>Results</h3><div>The most common diagnosis and trends across years by group: Benign vs malignant: Benign—slight decrease. Benign soft tissue neoplasm: Fibroma-stable. Bone lesions: Viable bone-mild fluctuation. Epithelial dysplasia: Mild epithelial dysplasia-mild fluctuation. Epithelial lesions: Squamous papilloma-mild fluctuation. Foreign bodies: Amalgam tattoo-mild fluctuation. Odontogenic cysts: Dentigerous cyst-mild fluctuation. Odontogenic neoplasms: Odontoma-decrease. Malignancies: SCC-mild fluctuation. Nonodontogenic cysts: Nasopalatine duct cyst-significant fluctuation. Pigmented lesions: Melanotic macule-moderate fluctuation. Salivary gland lesions: Mucocele-stable. Salivary gland neoplasms: Pleomorphic adenoma-significant fluctuation. Vascular lesions: Pyogenic granuloma-stable.</div></div><div><h3>Conclusion</h3><div>A slight increase in total number of sign-outs was observed, however, the overall trends in sign-out diagnoses have remained relatively stable over the years.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Pages e75-e76"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670743","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":"Massive intraosseous salivary gland choristoma—radiographically visible cluster of five mucous glands in mandibular marrow","authors":"Lakshmi Garladinne,&nbsp;Hiba Qari,&nbsp;Jerry Bouquot","doi":"10.1016/j.oooo.2025.04.014","DOIUrl":"10.1016/j.oooo.2025.04.014","url":null,"abstract":"<div><h3>Introduction</h3><div>Since first described in 1994, ectopic salivary glands (choristomas) have been reported in jawbone marrow in 19 patients, 14 in a single 2000 paper. Such entities, once described, provided for the first time a very logical nonodontogenic tissue of origin for intraosseous salivary neoplasms and cysts. Two reported choristomas were large enough to be radiographically visible. We present herein the largest, most “mature” example yet of this phenomenon.</div></div><div><h3>Methods and Materials</h3><div>Case report.</div></div><div><h3>Results</h3><div>An 18-year-old male had his impacted mandibular third molars removed, along with pericoronal cysts. An incidental finding just distal to the left third molar presented as an oval radiolucency with a faint, hazy, reticulated opacity and well-demarcated, scalloped borders. The area was asymptomatic, and the cortex was not expanded. Microscopic examination demonstrated a cyst lining of thin, atrophic stratified squamous epithelium consistent with dentigerous (eruption) cyst. Slightly separated from the cyst was a tight cluster of five independent (as per cut levels) mucous glands without serous demilunes, identical to minor salivary glands except for a lack of excretory ducts. The largest gland was 1.3 × 0.6 × 0.3 cm in size, more than twice as large as any previously described. The glands appeared histologically normal and even contained mucus (mucicarmine positive) in some ducts, something not previously reported. Serial sectioning showed no ducts traversing between glands. The glands were embedded within a mature fibrous stroma, with no true encapsulation noted; inflammation was not seen.</div></div><div><h3>Conclusion</h3><div>We report the largest yet example of the rare entity, intraosseous salivary choristoma (normal tissue in an abnormal location). This is only the second example to contain multiple glands, the third to show radiographically and the most “normal” gland yet, with ducts and mucus production, as demonstrated by secretions in some ducts. Glands were embedded in fibrous tissue.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e71"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670849","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":"The profile of chronic hyperplastic candidiasis—long-term follow-up demonstrating low risk for malignant transformation","authors":"Orit Winocur-Arias ,&nbsp;Ayelet Zlotogorski-Hurvitz ,&nbsp;Marilena Vered ,&nbsp;Yehonatan Ben-Zvi ,&nbsp;Gavriel Chaushu ,&nbsp;Jeremy Edel ,&nbsp;Ilana Kaplan","doi":"10.1016/j.oooo.2025.04.018","DOIUrl":"10.1016/j.oooo.2025.04.018","url":null,"abstract":"<div><h3>Introduction</h3><div>Chronic Hyperplastic Candidiasis (CHC) is a rare lesion, recently removed by WHO from the list of potentially malignant disorders, although its differentiation from leukoplakia is controversial. The aims of this study were investigation of clinical presentation, systemic factors, and long-term malignant transformation rate in CHC vs leukoplakia without dysplasia (LKP).</div></div><div><h3>Material and Methods</h3><div>Retrospective case-controlled study of CHC and LKP without dysplasia, diagnosed between 2000 and 2013. A database was created, and additional biopsies from the same patients were searched for records of oral malignancy up to 2022.</div></div><div><h3>Results</h3><div>The study included 116 patients, 62 CHC, 54 LKP, matched for age, gender, and location with the CHC group; all biopsies were negative for dysplasia. The tongue and buccal mucosa were most frequently involved. In CHC, significantly fewer patients presented white lesions, more lesions were ulcerated or exophytic (<em>P</em> = .006 and <em>P</em> = .003, respectively). History of head and neck (H&amp;N) malignancy was significantly more frequent in CHC (<em>P</em> = .001), as were chemotherapy (<em>P</em> = .019), radiotherapy <em>P</em> = .026), and immune-related conditions (<em>P</em> = .03). No significant differences were found in the frequency of non-H&amp;N malignancy and other systemic condition evaluated. Within the follow-up period, in CHC 2 (3.2%) patients had a malignant transformation at the original site of CHC, of which one was a recurrence of previous OSCC. In addition, 2 (3.2%) patients were newly diagnosed with OSCC and 3 (4.8%) had a recurrence of OSCC at other locations. In LKP, 2 (3.7%) had newly diagnosed OSCC, 1 (1.7%) at the site of the original biopsy. No significant differences were found between groups.</div></div><div><h3>Conclusions</h3><div>Medical background of immune-related conditions, H&amp;N malignancy, radiotherapy to H&amp;N, and chemotherapy may play a role in predisposing for CHC. Malignant transformation rate in CHC lesions was low, similar to LKP without dysplasia, and represented a lower transformation rate than expected.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Pages e72-e73"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670782","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":"Multifocal follicular adenomas of thyroid discovers PTEN-hamartoma tumor syndrome in children","authors":"John Hicks ,&nbsp;Catherine Flaitz","doi":"10.1016/j.oooo.2025.04.011","DOIUrl":"10.1016/j.oooo.2025.04.011","url":null,"abstract":"<div><h3>Introduction</h3><div>PTEN-hamartoma tumor syndrome (PHTS) is due to phosphatase and tensin homolog gene (PTEN, located on 10q23.3) deletion or mutation. This results in the loss of function of PTEN tumor suppressor inhibitory effects and regulation of cell proliferation, leading to the development of hamartomas and benign and malignant tumors.</div></div><div><h3>Methods and Materials</h3><div>Two preadolescent females presented with markedly enlarged thyroids, which upon ultrasound examination demonstrated multiple nodules of variable sizes. Thyroid function tests were not abnormal. Fine needle aspirations of the thyroid nodules demonstrated benign follicular lesions. Total thyroidectomies identified numerous multifocal follicular adenomas ranging from macroscopic to microscopic in size, with no malignant features.</div></div><div><h3>Results</h3><div>Molecular testing identified PTEN mutation with thyroid tissue, and subsequently identified germline PTEN mutation in both patients. Upon follow-up screening examination, a benign lipoma and hamartomatous ductal hyperplasia with PASH (pseudoangiomatous stromal hyperplasia) were identified in one patient; while the other patient had a breast intraductal papilloma and PTEN hamartoma of soft tissue (PHOST) involving an extremity. Both patients will be followed long-term for the development of other lesions.</div></div><div><h3>Conclusion</h3><div>PTEN-hamartoma tumor syndrome (PHTS) is primarily comprised of Cowden Syndrome and Bannayan–Riley–Ruvalcaba syndrome, and less often by Proteus-like syndrome, autism with macrocephaly, and other syndromes. A variety of thyroid diseases occurs in at least 75% of children with PHTS, with multiple adenomatous nodules being the hallmark, as in the present cases. Other thyroid diseases include lymphocytic thyroiditis, multinodular hyperplasia, and C-cell hyperplasia. The major long-term concern is the development of malignant tumors. Lifetime risk of cancer in individuals with PTEN mutations is significant and involves many organ systems (85% breast, 35% thyroid, 30% endometrium, 30% kidney, 12% colorectum, 5% melanoma). Multiple adenomatous nodules in a child may lead to the discovery of PHTS and reinforce the need for tumoral genetic testing in such instances.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e70"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144672099","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":"Clinically aggressive cemento-osseous dysplasia (COD) of the mandible with associated aneurysmal-like simple bone cysts (ASBC): three cases of expansive osseous dysplasia?","authors":"Gabrielle R. Dennis ,&nbsp;Prokopios P. Argyris ,&nbsp;Kristin K. McNamara ,&nbsp;Susan R. Mallery ,&nbsp;Ioannis Koutlas ,&nbsp;John R. Kalmar","doi":"10.1016/j.oooo.2025.04.080","DOIUrl":"10.1016/j.oooo.2025.04.080","url":null,"abstract":"<div><h3>Introduction</h3><div>Cemento-osseous dysplasias (COD), a family of benign fibro-osseous lesions of the jawbones, commonly present as asymptomatic, mostly nonexpansile, well-demarcated, mixed radiopacities/radiolucencies (RO/RL) or unilocular RL. Certain types show predilection for middle-aged Black and Asian women. A form of nonfamilial COD exhibiting marked, rapidly progressing jawbone expansion has been reported under the term expansive osseous dysplasia (EOD). Notably, EOD is frequently associated (25%-45%) with concurrent aneurysmal-like or simple bone cysts (ASBC).</div></div><div><h3>Materials and Methods</h3><div>We present three individuals with mandibular COD associated with ASBC characterized by extensive bony expansion and destruction.</div></div><div><h3>Results</h3><div>All 3 cases were nonfamilial and affected black-African women 20-52 years of age (median age: 36 years). Radiographically, 2 cases exhibited multiple, demarcated, unilocular, or multilocular RL and/or mixed RO/RL involving the entire body of the mandible with associated expansion, cortical thinning, and perforation. The 3rd and youngest patient presented with a markedly expansile multilocular RL with cortical thinning and small RO foci. One of the individuals, who presented initially with localized COD of the anterior mandible, showed rapid lesional progression within 5 years. Histopathologically, all cases featured irregularly shaped, round to ovoid dystrophic, cementum- or bone-like calcifications associated with cellular and notably vascular fibrocollagenous or fibromyxoid connective tissue. Hemorrhagic cystic spaces lined by slender trabeculae of vital woven bone with or without multinucleated giant cells were present. The 2 individuals with multiple mandibular lesions received a diagnosis of florid COD with ASBC while the youngest patient was diagnosed with the EOD variant of COD with ASBC.</div></div><div><h3>Conclusions</h3><div>EOD is an uncommon form of fibro-osseous lesion of the jaws characterized by rapid progression with significant bone loss and expansion. Patient management is challenging due to its aggressive clinical behavior.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e93"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670563","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":"The DNA cytosine deaminase APOBEC3B and the chemical carcinogen 4NQO synergize to exacerbate oral tumorigenesis in vivo","authors":"Prokopios P. Argyris ,&nbsp;Cameron C. Durfee ,&nbsp;Zachary J. Seeman ,&nbsp;John R. Kalmar ,&nbsp;Rachel I. Vogel ,&nbsp;Reuben S. Harris","doi":"10.1016/j.oooo.2025.04.083","DOIUrl":"10.1016/j.oooo.2025.04.083","url":null,"abstract":"<div><h3>Introduction</h3><div>The APOBEC3-related mutation signatures dominate the mutational landscape of numerous human malignancies. One of the enzymes responsible, APOBEC3B (A3B), converts DNA cytosines to uracils (C-to-U), which become immortalized as C-to-T/-G base substitutions in TC motifs. Oral and oropharyngeal squamous cell carcinomas (SCCs) show elevated <em>A3B</em> mRNA/protein levels and high proportion of APOBEC3 signature mutations. Recently, we reported a mouse model that expresses tumor-like levels of human A3B. Here, we show how endogenous A3B may combine with the exogenous carcinogen 4NQO to promote oral tumorigenesis in vivo.</div></div><div><h3>Materials and Methods</h3><div>Engineered 8-week-old C57BL/6J mice constitutively expressing active human <em>A3B</em> (<em>N</em> = 23) were treated with 4NQO (50 μg/mL in drinking water) for 16 weeks. Animals were reverted to normal water (8 weeks) and sacrificed at the 32nd week. Wildtype C57BL/6 mice (<em>N</em> = 22) and mice expressing a catalytically inactive <em>A3B</em> variant (A3B^E255A, <em>N</em> = 20) served as controls. Tongues and esophagi were harvested and analyzed histopathologically. A3B levels were confirmed by immunohistochemistry (α-A3B rabbit mAb, 5210-87-13; 1:350 dil.). Differences between groups were analyzed using Poisson regression models; <em>P</em> &lt; .05 considered significant.</div></div><div><h3>Results</h3><div>Nontreated wildtype and A3B-expressing animals presented no lesions. As anticipated, 4NQO caused intraoral and esophageal lesions ranging from squamous papillomas to papillary, noninvasive, high-grade, epithelial dysplasias, and SCCs. Active A3B expression in mice promoted oral and esophageal tumorigenesis compared to wild-type animals (3 vs 1.5 lesions/animal; <em>P</em> = .019). Furthermore, A3B caused a 2.2-fold increase in the frequency of invasive SCCs, predominantly of the tongue (<em>P</em> = .026). By immunohistochemistry, all lesions in A3B-expressing animals showed uniformly strong, nuclear positivity. Notably, oral tumorigenesis was substantially attenuated in A3B^E255A mice compared to active A3B animals (<em>P</em> = .007); A3B^E255A mice featured overall lesional burden similar to the wildtype group (<em>P</em> = .362).</div></div><div><h3>Conclusions</h3><div>When active, the mutagenic enzyme A3B functions synergistically with 4NQO to promote oral neoplasia, thus exacerbating tumor load and carcinogenesis.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e94"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670566","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":"Premalignant changes in odontogenic keratocyst of a 14-year-old patient","authors":"Jasbir Upadhyaya,&nbsp;Benjamin Schlott","doi":"10.1016/j.oooo.2025.04.028","DOIUrl":"10.1016/j.oooo.2025.04.028","url":null,"abstract":"<div><h3>Introduction</h3><div>Odontogenic keratocyst (OKC) is known for its characteristic behavior, aggressive growth pattern, and a high tendency to recur. Dysplastic change in an OKC is an infrequent phenomenon.</div></div><div><h3>Case Report</h3><div>We report an unusual case of an OKC, exhibiting premalignant changes, in the anterior mandible of a 14-year-old female. The lesion was an incidental finding during a routine dental examination. The patient was asymptomatic, and no signs of swelling or cortical expansion were noted. Radiographically, it presented as a unilocular, well-defined, expansile radiolucency with partially corticated margins. There was a marked divergence of mandibular incisors and canine. The patient exhibited palmar pitting, as seen in Gorlin-Goltz syndrome. Histologic evaluation of the incisional biopsy showed moderate to severe dysplastic changes in the lining epithelium. The cyst was enucleated 2 months later and the biopsy revealed changes consistent with severe dysplasia and focal carcinoma in situ. Atypical changes such as nuclear hyperchromatism, increased nuclear/cytoplasmic ratio, loss of cellular polarity, dyskeratosis, and atypical mitoses were observed. Occasional teardrop-shaped budding of the lining epithelium was present. The underlying connective tissue displayed an intense inflammatory infiltrate and scant germinal centers. The patient will be periodically re-evaluated and followed up closely.</div></div><div><h3>Conclusion</h3><div>Epithelial dysplasia in OKC is not a common occurrence. Whether OKCs with epithelial dysplasia have a higher recurrence and/or should be treated differently than OKCs without dysplasia, especially in syndromic patients, remains uncertain. Should dysplasia be considered a predictive factor for the recurrence of an OKC? Since many OKCs may not recur until 10 years or more after the initial treatment, a long-term follow-up, including periodic radiographic imaging, is recommended.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e76"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670744","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":"Solitary median maxillary central incisor syndrome: heterozygous pathogenic variant in the SIX3 gene","authors":"Julia Price,&nbsp;Thanakorn Baker,&nbsp;Stephen Roth,&nbsp;Kathleen Schultz","doi":"10.1016/j.oooo.2025.04.038","DOIUrl":"10.1016/j.oooo.2025.04.038","url":null,"abstract":"<div><h3>Introduction</h3><div>Solitary median maxillary central incisor (SMMCI) syndrome, previously referred to as “solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis syndrome,” is a disorder that encompasses a variety of congenital midline defects. Holoprosencephaly is among the most serious presentations of this condition, manifesting in significant craniofacial and neural defects. The diagnosis can be identified with ultrasound prenatally; respiratory distress is the presenting symptom of choanal atresia/midnasal stenosis in infancy. Some patients are diagnosed upon eruption of the single maxillary primary central incisor. Several chromosomal abnormalities have been implicated with this syndrome, including mutations in the <em>SHH</em> gene.</div></div><div><h3>Case Findings</h3><div>A 4-year-old male presented with a history significant for repaired unilateral cleft lip, developmental delay, and a nasal dermoid cyst. Holoprosencephaly was not identified on brain MRI. His intraoral examination was significant for primary dentition including a single large maxillary midline primary central incisor, and no maxillary labial frenum. The parents deny history of trauma. A maxillary occlusal radiograph revealed a single primary central incisor located in the midline, as well as a single developing permanent central incisor. All other dentition appeared to be developing appropriately.</div></div><div><h3>Results</h3><div>The patient’s phenotype of unilateral cleft lip, solitary median maxillary primary central incisor, nasal dermoid cyst, and developmental delay are consistent with SMMCI syndrome. The patient was evaluated with chromosomal microarray (negative study) as well as Invitae Holoprosencephaly Panel which identified a heterozygous pathogenic variant in the <em>SIX3</em> gene. <em>SIX3</em> gene is observed in autosomal dominant nonsyndromic holoprosencephaly and <em>SIX3</em> has been implicated in SMMCI syndrome.</div></div><div><h3>Conclusion</h3><div>SMMCI syndrome is composed of unique congenital abnormalities inherited in an autosomal dominant pattern. The family history may appear negative because of reduced penetrance. The presentation of a single symmetrical large maxillary central incisor should raise concern for congenital midline defects warranting directed genetic testing.</div></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"140 3","pages":"Page e79"},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670635","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":"Congenital superficial angiomyxoma: a case report and literature review","authors":"Yasmin Ludianski,&nbsp;Brandon Veremis,&nbsp;Naomi Ramer","doi":"10.1016/j.oooo.2025.04.046","DOIUrl":"10.1016/j.oooo.2025.04.046","url":null,"abstract":"<div><h3>Introduction</h3><div>The superficial angiomyxoma was first described by Carney et al. in 1986. There is only one existing publication of an intraoral superficial angiomyxoma occurring in an infant. We present the second documented case of intraoral superficial angiomyxoma in a child accompanied by a literature review and a discussion regarding the association of this entity with the Carney complex.</div></div><div><h3>Materials and Methods</h3><div>Full-text case reports and case series in the English language were searched in PubMed, Ovid, Scopus, and Google Scholar Databases from 1986 to 2023. Results regarding aggressive angiomyxoma were excluded from the literature review to avoid confusion as the aggressive angiomyxoma has a higher rate of local recurrence and is mainly associated with the genital, perineal, and pelvic regions of adult women.</div></div><div><h3>Results</h3><div>We present a 6-month-old infant with a clinical presentation of a mass of the anterior maxillary gingiva. The patient’s mother stated that the lesion was increasing in size and obstructing feeding. Upon, histopathologic evaluation, CD34 and S-100 were positive. Actin was focally positive. A final diagnosis of superficial angiomyxoma was rendered due to these findings and a recommendation to rule out Carney complex was made to the parents.</div></div><div><h3>Conclusion</h3><div>The superficial angiomyxoma is a soft tissue tumor that should be distinguished from other cutaneous myxomas. We present a rare case of a superficial angiomyxoma in an infant, the second documented case of this lesion in a pediatric patient in the head and neck region, accompanied by a literature review. A loss of <em>PRKAR1A</em>, the Carney Syndrome-associated tumor suppressor gene product in syndromic angiomyxomas, has been observed and reported. Therefore, this entity should be considered among the differential diagnoses of cutaneous myxomas in the head and neck of children and genetic testing should be recommended to rule out Carney syndrome.</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":"144670597","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}