Oral Surgery Oral Medicine Oral Pathology Oral Radiology最新文献

{"title":"A Case Series of Three Soft Tissue Malignant Neoplasms with CRTC1-TRIM11 Fusion in the Head and Neck","authors":"Dr. Hiba Qari ,&nbsp;Dr. John Ozolek ,&nbsp;Dr. Lakshmi Garladinne","doi":"10.1016/j.oooo.2024.04.064","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.064","url":null,"abstract":"<div><h3>Introduction</h3><p>We present three cases of a rare malignant soft tissue tumor with a CRCT1-TRIM11 fusion gene in the head and neck region. This molecular discovery is associated with a recently identified dermal neoplasm referred to as cutaneous melanocytoma tumor with CRTC1-TRIM 11 translocation (CMTCT), acknowledged as a low-grade malignant tumor originating from surface epithelium. Although these three cases exhibited positivity for the CRTC1-TRIM11 fusion, they showed a mixed immunophenotype and a more aggressive clinical behavior when compared with typical CMTCT cases.</p></div><div><h3>Materials and Methods</h3><p>Caris Life Sciences, a molecular profiling laboratory conducted RNA sequencing for the three cases. For case one, hematoxylin and eosin stained slides and immunohistochemistry (IHC) stains were performed by the West Virginia University. In contrast, only IHC results were available for cases two and three by Caris Life Sciences.</p></div><div><h3>Results</h3><p>Clinically, our case series involved two females and one male, aged between 36 and 69 years. Two cases manifested in the nasal cavity, while one occurred in the hard palate. Notably, two cases tested negative for melanocytic markers S-100, HMB-45, and Mart-1/Melan-A, while the third case displayed positivity for all three markers. However, all three cases were positive for CRTC1-TRIM11 translocation. One case also exhibited TERT mutation, while negative for BRAF, NTRK1/2/3, and EWSR1.</p></div><div><h3>Conclusion</h3><p>The scarcity of robust data on CMTCT and CRTC1-TRIM11 fusion gene poses diagnostic challenges. Our findings offer a comprehensive analysis and explores the intricacies associated with this rare entity to inform improved therapeutic approaches and prognostic predictions. Finally, it raises the question whether the findings represent a lesional spectrum that all share the same molecular perturbation or perhaps an introduction to a new entity.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e51"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605740","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":"Dermatofibrosarcoma protuberans (DFSP) involving oral cavity in child.","authors":"Dr. John Hicks ,&nbsp;Dr. Catherine Flaitz","doi":"10.1016/j.oooo.2024.04.042","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.042","url":null,"abstract":"<div><h3>Introduction</h3><p>DFSP is a rare low-grade spindle cell malignancy (&lt;0.1% of all malignancies, &lt;1% of soft tissue sarcomas). Majority of these cutaneous tumors occur in 20-50 year-olds and are slow growing, asymptomatic without ulceration. Most common sites of involvement are trunk and extremities with 10- 15% in head and neck. Oral cavity DFSP is extremely rare with 6 documented cases in literature (age range: 44-72 years; 4M:2F, 2 vermillion lip; 4 buccal mucosa). DFSP diagnosis is based upon CD34 expression and COL1A1:PDGFB fusion identification.</p></div><div><h3>Methods and Materials</h3><p>5 year-old male presented for annual dental examination to pediatric dentist. Of significance, a nontender, submucosal enlargement with intact mucosal surface of the right hard palate was noted. Initial biopsy impression at originating institution was infantile fibrosarcoma. Additional immunohistochemical and gene fusion detection studies were performed at the consulting institution.</p></div><div><h3>Results</h3><p>Consultative review demonstrated low-grade spindle cell tumor (Positive for CD34; Negative for PanTRK, STAT6, ALK, Desmin, MyoD1, Myogenin). Presumptive DFSP diagnosis was rendered. COL1A1:PDGFB fusion identification (RT-PCR) confirmed DFSP diagnosis. Patient underwent conservative surgical resection with negative margins. Resection specimen demonstrated fleshy mass extensively involving submucosa with intact mucosa.</p></div><div><h3>Conclusion</h3><p>Indolent asymptomatic clinical presentation of DFSP tends to result in delayed diagnosis. This low grade spindle cell tumor may be mistaken for other benign and malignant spindle cell tumors (deep fibrous histiocytoma, dermatofibroma, dermatomyofibroma, perineurioma, neurofibroma, leiomyoma, solitary fibrous tumor, infantile fibrosarcoma, conventional fibrosarcoma, leiomyosarcoma, spindle cell melanoma). DFSP may be differentiated from other spindle cell tumors based on histopathologic and immunophenotype features (especially positive CD34, with negative immunostaining characteristic for other entities), and confirmed by identifying COL1A1:PDGFB fusion. Metastatic disease is rare (&lt;1%). DFSP transformation to high-grade fibrosarcoma with metastatic potential may occur in minority of cases.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Pages e42-e43"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605750","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":"BCL-2 and Ki-67 expression in Odontogenic Keratocysts","authors":"Dr. Joud Y. Omari,&nbsp;Dr. Min Kyeong Kim,&nbsp;Prof. Sook-Bin Woo","doi":"10.1016/j.oooo.2024.04.024","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.024","url":null,"abstract":"<div><h3>Introduction</h3><p>Odontogenic keratocyst/keratocystic odontogenic tumor (OKC/KCOT) is a cystic odontogenic neoplasm that harbors PTCH1 gene mutation in 93% of the cases. BCL-2 is an anti-apoptotic gene that functions through the regulation of Ca 2 concentration, maintenance of mitochondrial integrity and promoting cell survival during the G0 of cell cycle when growth factors are depleted. It is expressed in some benign neoplasms such as spindle cell lipoma and solitary fibrous tumor.</p></div><div><h3>Aim</h3><p>We aim to investigate the expression of BCL-2 and Ki-67 in OKC/KCOT compared to other odontogenic cysts and tumors.</p></div><div><h3>Methods</h3><p>26 cases of sporadic OKC/KCOT and 24 controls, including 15 dentigerous cysts, nine other odontogenic cysts and three cases of unicystic ameloblastoma were stained for BCL-2 and Ki-67.</p></div><div><h3>Results</h3><p>The epithelium exhibited dysmaturation in &gt;1/3 of the epithelium in 15 (57.7%) of the cases. All cases (100%) were positive for BCL-2 involving basal cell cytoplasm with 15 cases (57.7%) involving up to one third of the epithelium, and 3 (11.5%) involving more than one-third of the epithelium. Expression of BCL-2 was completely lost in areas where the epithelium was inflamed. Ki-67 showed &gt;30% expression in 19 cases at least focally while the rest showed 5-30% positivity. Ki-67 expression was significantly higher in cases that exhibited dysmaturation in &gt;1/3 of the epithelium (p= 0.032). None of the cyst controls were positive for BCL-2 expression. All three cases of unicystic ameloblastoma were diffusely positive for BCL-2.</p></div><div><h3>Conclusion</h3><p>BCL-2 is a sensitive marker for OKC/KCOT staining the basal cell cytoplasm in 100% of cases. It is useful in identifying cases with histologic features suggestive of but not definitive for OKC/KCOT especially in small specimens, as well as for excluding this diagnosis in cysts that exhibit focal parakeratosis without other features of OKC/KCOT.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e36"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605855","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":"Primary Intraosseous Carcinoma (PIOC), NOS: Origin from cyst lining, immunohistochemical profile and review of the literature","authors":"Dr. Sandra Khuu ,&nbsp;Dr. Ik Kyun (Ike) Kwon ,&nbsp;Dr. Rachelle Wolk ,&nbsp;Dr. Renee Reich ,&nbsp;Dr. Paul Freedman","doi":"10.1016/j.oooo.2024.04.029","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.029","url":null,"abstract":"<div><h3>Introduction</h3><p>Primary intraosseous carcinoma, NOS (PIOC) represents a unique subset of central carcinomas of the jaws. They're predominantly found in older males, primarily affect the posterior mandible and are thought to arise from odontogenic cysts and rests of odontogenic epithelium. The diagnosis of PIOC requires exclusion of metastases or extension of gingival, alveolar or antral squamous cell carcinomas into the jaw. In the literature, these carcinomas were associated with cysts and were typically moderately differentiated. We present 10 cases and their immunohistochemical profiles to elucidate potential diagnostic markers.</p></div><div><h3>Materials and Methods</h3><p>Ten cases of PIOC were identified in the OPL, Inc./NYPQ from 1997-2023. Immunohistochemical staining with CK 14, CK 19, p40, and p53 was performed.</p></div><div><h3>Results</h3><p>All 10 PIOCs were associated with a cyst. Two arose in keratinizing cysts. All 10 showed diffuse strong cytoplasmic expression for CK14 and nuclear expression for p40 in the cyst and tumor. CK19 was expressed in 7 of 9 cases, frequently confined to the dysplastic cyst lining and less differentiated tumor cells. The 2 cases diagnosed as arising in keratinizing cysts did not express CK19. 9 of 10 cases showed p53 nuclear expression.</p></div><div><h3>Conclusion</h3><p>This study provides insights into PIOC staining profiles. A correlation between CK19 and p53 positivity and poor prognosis and higher tumor grade has been suggested in oral soft tissue squamous cell carcinomas. Interestingly, CK19 positivity was observed in our non-keratinizing cysts but absent in keratinizing cysts and most obvious in our less differentiated tumors, also suggesting a potential role in the differentiation process of these tumors. In contrast, CK14 was consistently positive in both normal and dysplastic cyst linings, highlighting its broader expression in odontogenic tissues. Further research with larger sample sizes is necessary to validate these findings and explore the implications of CK19 in the prognosis of PIOC.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e38"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605859","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":"Ischemic Marrow Disease in Mandibular Condyles Removed for Severe Osteoarthritis","authors":"Dr. Jerry Bouquot ,&nbsp;Dr. Ida Varghese","doi":"10.1016/j.oooo.2024.04.046","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.046","url":null,"abstract":"<div><h3>Introduction</h3><p>Chronic Ischemic medullary disease (CIMD) is now known to occur in 50-80% of femoral heads with osteoarthritis. It occurs, moreover, so frequently before cartilage damage that some have suggested that poor medullary blood flow may be a major cause of desiccation of overlying hard tissues.</p></div><div><h3>Methods &amp; Materials</h3><p>A convenience sample of 7 condylar heads surgically removed because of severe, painful osteoarthritis, were histopathologically assessed for features of ischemic disease in the marrow immediately beneath the damaged hard tissues. Changes looked for were the same as those found in affected hips and bone marrow edema: 1) ischemic myelofibrosis; 2) dilated medullary capillaries; 3) oil cysts (large bubbles of liquefied fat) or fatty microvesicles, as evidence of past fat necrosis; 4) osteocavitations; 5) ischemic marrow atrophy (denuded trabeculae); 6) intramedullary fibrous scar tissue; 7) stagnant immature bone; 8) osteosclerosis; 9) reticular fatty degeneration; 10) focal osteoporosis; 11) plasmostasis (serous ooze); 12) mast cell presence.</p></div><div><h3>Results</h3><p>Of 7 temporomandibular joints examined, 6 showed evidence of CIMD: one severe, 4 moderately severe and 1 mildly damaged. Three joints showed CIMD consistent with a diagnosis of bone marrow edema, while 5 showed marrow voids or cavitations; 3 showed areas of focal osteoporosis; all showed either oil cysts or fatty microvesicles. Five affected condyles showed focal fibrosis, and none demonstrated osteosclerosis. Very few lymphocytes were seen, but small numbers of mast cells were found in areas of wispy fibrosis. Four of the specimens showed multiple, usually small areas of ischemic damage, separated by normal marrow. Surface cartilage was fissured, broken or missing in all condyles, while underlying bone was only focally nonviable (focal areas of empty lacunae).</p></div><div><h3>Conclusion</h3><p>As with femoral heads, condylar heads affected by osteoarthritis show ischemic medullary damage beneath the damaged cartilage/bone (6 of 7 condylar heads).</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e44"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604913","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":"HIF1A INHIBITION BOOSTS THE ACTIVITY OF ANTI-PD-1 ANTIBODY TREATMENT IN IMMUNE-COLD HNSCC","authors":"Dr. Wendi Quinn O'Neill ,&nbsp;Ms. Marta Storl-Desmond ,&nbsp;Ms. Heping Yu ,&nbsp;Dr. Quintin Pan","doi":"10.1016/j.oooo.2024.04.071","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.071","url":null,"abstract":"<div><h3>Introduction</h3><p>Anti-PD-1 therapies, pembrolizumab and nivolumab, are approved for the treatment of head and neck squamous cell carcinoma; however, their response rates are limited to a subset, ∼15-20%, of these patients. There is considerable interest in developing strategies to boost the activity of anti-PD-1 therapies. The binding partner of PD-1, known as PD-L1, is expressed at increased levels on HNSCC cells and is reported to be regulated by HIF1α. Given the regulatory overlap between HIF1α and PD-1/PD-L1 signaling pathways and their distinct influences on HNSCC outcomes, we hypothesized that suppression of HIF1α would enhance the response to immunotherapy targeting PD-1.</p></div><div><h3>Materials &amp; Methods</h3><p>To test this hypothesis, we generated an “immune cold” syngeneic mouse model of HNSCC with doxycycline-inducible HIF1α knockdown. Successful knockdown was confirmed by immunoblot analysis, and in vitro proliferation studies showed a 20% reduction in HIF1α-depleted cells compared to controls. C57BL/6 mice inoculated with doxycycline-inducible HIF1α knockdown cells were randomized into four groups once tumors were established and received control- or doxycycline-feed with either IgG control or anti-PD-1 antibody, administered three times weekly by intraperitoneal injection.</p></div><div><h3>Results</h3><p>Anti-PD-1 immunotherapy did not affect tumor growth, while mice receiving doxycycline-feed showed a 29.8% reduction (p=0.05, n=8). Impressively, suppression of HIF1α combined with anti-PD1 antibody resulted in greater than 50% reduction in tumor growth compared to control mice (p&lt;0.01, n=8). Notably, the effect of PD-1 immunotherapy in the setting of HIF1α knockdown was significantly different from that observed in either single-modality condition (combined treatment vs. HIF1α knockdown: p&lt;0.05; combined treatment vs PD-1 inhibitor: p&lt;0.01). Immunohistochemical examination of tumors revealed a modest increase in tumor infiltration by CD8+ T-cells in each single-modality treatment arm, whereas extensive CD8+ T-cell infiltration was observed for the combination regimen.</p></div><div><h3>Conclusion</h3><p>Suppression of HIF1α boosts the efficacy of PD-1 blockade through enhancement of CD8+ T-cell infiltration.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Pages e53-e54"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605100","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":"Oral Bullous Lichen Planus (BLP) and Oral Lichen Planus Pemphigoides: A Diagnostic Dilemma","authors":"Dr. Najwa Yousef ,&nbsp;Dr. Naftali Price ,&nbsp;Dr. Yashai Brown ,&nbsp;Dr. Shahd Alajaji ,&nbsp;Dr. Shravan Thiagarajan ,&nbsp;Ms. Christine Livesay ,&nbsp;Dr. John Basile ,&nbsp;Dr. Christine Drachenberg ,&nbsp;Dr. Timothy Meiller ,&nbsp;Dr. Dana Weikel ,&nbsp;Dr. Ahmed Sultan","doi":"10.1016/j.oooo.2024.04.078","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.078","url":null,"abstract":"<div><h3>Introduction</h3><p>Bullous Lichen Planus (BLP) and Lichen Planus Pemphigoides (LPP), both very rare presentations of oral mucosal diseases can be difficult to diagnose. Whereas BLP is the rarest variant of lichen planus, LPP is the rarest variant of bullous pemphigoid. The oral presentation of BLP and LPP often are similar, leading to misdiagnosis and diagnostic delay. BLP and LPP present similarly clinically with bullae and background white striations. Clinical history is important as LPP usually evolves from a long-standing history of reticular oral lichen planus however, historical records may not always be available and oftentimes patients present for the first time to an oral medicine specialist with concurrent lichenoid changes and bullae complicating the diagnosis. The clinical and histopathologic features of both oral BLP and oral LPP are indistinguishable and therefore additional immunofluorescence studies are needed to differentiate the two.</p></div><div><h3>Case Report</h3><p>Our case report demonstrated histopathological findings of an intact bulla with adjacent lichenoid mucositis. Additional direct immunofluorescence (DIF) studies did not show linear IgG, IgA, IgM, or C3 deposition at the basement membrane zone therefore confirming a diagnosis of oral BLP. This case report highlights the importance of DIF studies in differentiating between these two rare entities. An accurate diagnosis is critical due to the significance in prognosis between the two conditions, notably, oral LPP is considered a systemic autoimmune disease that may evolve with progressive scarring involving the conjunctivae resulting in blindness. Additionally, scarring of other mucosal sites can lead to respiratory distress and dysphagia.</p></div><div><h3>Conclusion</h3><p>In conclusion, oral LPP is underdiagnosed due to the lack of prescribed immunofluorescence studies in cases that may appear similar to oral LPP such as this case report of oral BLP</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e57"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605104","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":"Information for Readers","authors":"","doi":"10.1016/S2212-4403(24)00336-5","DOIUrl":"https://doi.org/10.1016/S2212-4403(24)00336-5","url":null,"abstract":"","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page A6"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605151","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":"Oral Sarcomatoid Squamous Cell Carcinoma: Clinicopathologic and Immunophenotypic Characterization Including SATB2 Expression in 10 Cases","authors":"Dr. Gabriella Speakman ,&nbsp;Dr. Prokopios Argyris ,&nbsp;Dr. John Kalmar ,&nbsp;Dr. Kristin McNamara","doi":"10.1016/j.oooo.2024.04.059","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.059","url":null,"abstract":"<div><h3>Introduction</h3><p>Sarcomatoid or spindle cell carcinoma (sSCC) is a rare histopathologic variant of squamous cell carcinoma exhibiting spindled cytomorphologic features and frequent loss of epithelial differentiation markers. Recently, SATB2 expression has been reported in cases of oral sSCC. Herein, we present the clinicopathologic and immunophenotypic characteristics including SATB2 expression of 10 cases of intraoral sSCC.</p></div><div><h3>Material and Methods</h3><p>Archived sSCC cases diagnosed over a 23-year period (2000-2023) were retrieved from the electronic laboratory databases of Oral Pathology Consultants at The OSU. Cases lacking proper morphologic features or sufficient immunohistochemical confirmation were excluded from the study. All sSCC cases were immunostained for SATB2. Patient age, gender and lesion location were recorded.</p></div><div><h3>Results</h3><p>Ten oral sSCC cases were identified among 6 men and 4 women (M:F ratio=1.5:1; age range=47-82y, median=74.5y). Five cases involved the tongue, 2 each the mandible and mandibular gingiva, and one the buccal/labial mucosa. Clinically, lesions presented as large, occasionally polypoid and ulcerated, erythematous, indurated or firm masses, measuring 3-8cm (mean=4.3cm). Microscopically, all tumors demonstrated an infiltrative population of atypical spindle cells with nuclear hyperchromatism, pleomorphism, increased mitoses, and varying amounts of eosinophilic cytoplasm. A prominent rhabdoid phenotype was observed in 3 cases. Immunohistochemically, all cases exhibited strong, focal-to-diffuse, positivity for epithelial markers including pancytokeratin, CAM5.2 and p63/p40. Focal, moderate-to-strong, nuclear SATB2 immunoreactivity was observed in 4 cases with 20-40% of carcinoma cells showing positivity, while 3 additional cases showed rare, weak-to-moderate SATB2 immunoexpression.</p></div><div><h3>Conclusions</h3><p>Oral cavity sSCC is a rare epithelial malignancy with sarcomatoid characteristics including spindle and rhabdoid morphology. A panel of epithelial and non-epithelial markers is required for proper diagnosis. We observed variable SATB2 immunostaining in 70% of oral sSCC cases, posing a potential diagnostic challenge with these rare neoplasms, particularly in small biopsy specimens.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e49"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605314","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":"Primary neuroendocrine carcinomas of the oral cavity, a case series and evaluation of SMARCB1 (INI-1) expression","authors":"Dr. Ik Kyun (Ike) Kwon ,&nbsp;Dr. Sandra Khuu ,&nbsp;Dr. Renee Reich ,&nbsp;Dr. Paul Freedman","doi":"10.1016/j.oooo.2024.04.016","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.016","url":null,"abstract":"<div><h3>Introduction</h3><p>Primary neuroendocrine carcinoma of the oral cavity is a rare malignancy with poorly differentiated cells expressing neuroendocrine markers. Due to its rarity, the nature of the lesion is still largely unknown. Here we present six cases of neuroendocrine carcinomas arising in the oral cavity along with their immunohistochemical profiles.</p><p>Since a subset of SMARCB1-deficient sinonasal carcinoma may demonstrate neuroendocrine expression, we investigated SMARCB1 IHC expression in our oral neuroendocrine carcinomas. To the best of our knowledge, SMARCB1 alterations have not been investigated in neuroendocrine carcinomas of the oral cavity.</p></div><div><h3>Materials and Methods</h3><p>Six cases of neuroendocrine carcinomas were identified from the archives of the Oral Pathology Laboratory, Inc/NYPQ, from 2003 to 2023. IHC panels including INI-1 were performed. All cases were confirmed as primary tumors of the oral cavity.</p></div><div><h3>Results</h3><p>Out of six cases of neuroendocrine carcinomas, three cases showed a partial/mosaic pattern of SMARCB1 expression. This pattern includes focal areas of complete SMARCB1 loss, and areas with an admixture of tumor cells that retain or lost SMARCB1 expression.</p></div><div><h3>Conclusion</h3><p>We present six cases of primary neuroendocrine carcinoma of the oral cavity including three cases with altered SMARCB1 expression. Similar altered expression patterns have been reported in schwannomatosis, ossifying fibromyxoid tumor, and synovial sarcoma. A more accurate molecular analysis is warranted to understand the significance of this finding.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e33"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605441","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}