Dr. Ioana Ghita , Dr. Christopher Fielding , Dr. Joshua Lubek , Dr. Rania Younis
{"title":"Myofibroblastic proliferation of the tongue with significant differential diagnosis - a case report and review of literature","authors":"Dr. Ioana Ghita , Dr. Christopher Fielding , Dr. Joshua Lubek , Dr. Rania Younis","doi":"10.1016/j.oooo.2024.04.082","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.082","url":null,"abstract":"<div><p>Lesions of Myofibroblastic origin are very rare to occur in the tongue, sometimes they have an aggressive presentation that could be easily misdiagnosed as malignancy. There is not a clear etiology, however trauma and infection are suggested factors. Histologically, myofibroblastic and inflammatory cells are present.</p><p>Here we present a case report of a 46-year-old Caucasian female that presented with approximately three year-history of laceration of dorsum tongue that was recently further traumatized by biting it. The clinical exam revealed a traumatic raised nodular lesion on the right side towards the mid-line of dorsum tongue.</p><p>The histological findings revealed a poorly demarcated mass of atypical proliferating spindle cells, infiltrating into the muscle fibers and extending to the base of the specimen. Desmin and Myogenin, were focally positive in regenerating/degenerating muscle cells. MSA was diffusely positive in the spindle cells. Within the submucosa there was a proliferation of actin positive myofibroblasts with associated inflamed granulation tissue containing scattered acute and chronic inflammatory cells. CK (AE1/AE3), CD31, S-100, and HMB45 were negative for the spindle cells. CD31 highlighted the small blood vessels in the granulation tissue. Perivascular necrosis was noted. Ki-67 showed high proliferative index (>25%). Factor XIIIa highlighted fibroblasts and MyoD1 showed scattered positivity.</p><p>The final diagnosis was in favor of a benign reactive myofibroblastic proliferation.</p><p>Myofibroblastic proliferation lesion is a challenging diagnosis because of the clinical appearance and the histological features mimicking malignancy. For this reason, it is imperative to have an accurate diagnosis to prevent unnecessary radical treatment.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e58"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605342","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}
Dr. Ivan Stojanov , Dr. Christina McCord , Dr. Julia Yu-Fong Chang , Dr. Chia-Cheng Li , Dr. Lingxin Zhang , Dr. Victoria Woo , Dr. Elizabeth M Philipone , Dr. Victoria Patel , Dr. Kelly Magliocca , Dr. Iona Leong , Dr. Brandon Veremis , Dr. Hemlata Shirsat , Dr. Vincent Cracolici , Dr. Christopher Griffith , Dr. William Westra , Dr. Emilija Todorovic , Dr. Elizabeth Ann Bilodeau , Dr. Kelly Yi Ping Liu , Dr. Yen Chen Kevin Ko
{"title":"Consensus in Diagnosis and Classification of Oral Epithelial Dysplasia: A Comparative Analysis of H&E-Stained Sections with and without p53/p16 Immunohistochemistry","authors":"Dr. Ivan Stojanov , Dr. Christina McCord , Dr. Julia Yu-Fong Chang , Dr. Chia-Cheng Li , Dr. Lingxin Zhang , Dr. Victoria Woo , Dr. Elizabeth M Philipone , Dr. Victoria Patel , Dr. Kelly Magliocca , Dr. Iona Leong , Dr. Brandon Veremis , Dr. Hemlata Shirsat , Dr. Vincent Cracolici , Dr. Christopher Griffith , Dr. William Westra , Dr. Emilija Todorovic , Dr. Elizabeth Ann Bilodeau , Dr. Kelly Yi Ping Liu , Dr. Yen Chen Kevin Ko","doi":"10.1016/j.oooo.2024.04.072","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.072","url":null,"abstract":"<div><h3>Introduction</h3><p>WHO grading of oral epithelial dysplasia (OED) is employed by pathologists to aid in prognostication and treatment planning. However, considerable inter-observer variability exists. Recently, p53 abnormal OED has been proposed as a unique entity with an increased risk of malignant transformation. Subsequently, a pattern-based approach to p53/p16 immunohistochemistry (IHC) interpretation has been developed to classify OED into Human Papillomavirus (HPV)-associated, p53 wild-type (conventional), and p53 abnormal OED. In this study, the grading (three-tiered and two-tiered) and classification of OED were compared using hematoxylin and eosin-stained sections (H&E) with and without p53/p16 IHC.</p></div><div><h3>Materials and Methods</h3><p>Formalin-fixed, paraffin-embedded oral biopsy specimens with targeted Next-Generation Sequencing results and/or high-risk HPV in situ hybridization results were collected from 51 patients. Inter-observer variability among 18 pathologists was determined using Fleiss’ kappa (κ).</p></div><div><h3>Results</h3><p>93% of HPV-associated OED and 77% of p53 abnormal OED were successfully identified using p53/p16 IHC. In contrast, 55% of HPV-associated OED and 37% of p53 abnormal OED were identified using H&E. 19% of p53 abnormal OED were initially interpreted as “reactive, no dysplasia” using H&E; this decreased to 10% following reviewing of p53/p16 IHC. There is excellent agreement beyond chance and fair to good agreement beyond chance for the classification of OED using p53/p16 IHC (overall, κ = 0.61, HPV-associated OED, κ = 0.92; p53 abnormal OED, κ = 0.56). Both the three-tiered and two-tiered dysplasia grading systems demonstrate poor agreement beyond chance in H&E (κ = 0.35 and 0.39; p < 0.0001) and p53/p16 IHC (κ = 0.33 and 0.37; p < 0.0001).</p></div><div><h3>Conclusions</h3><p>A panel of p53/p16 IHC can improve both diagnostic accuracy and inter-observer agreement in the diagnosis of OED. p53 abnormal OED cannot be reliably identified on H&E alone, and the histologic spectrum of HPV-associated dysplasia is broader than currently appreciated.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e54"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605344","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}
Ms. Carolina Netto , Ms. Marília Paiva dos Santos , Mr. Arnoldo Antelo Retamoso , Ms. Camila Dutra Caetano , Dr. Marcelo Sperandio , Dr. Victor Montalli , Dr. Paulo Moraes
{"title":"Significance of Dental Intervention in Onco-Hematological Disorders: A Case Report of Gingival Leukemic Infiltration","authors":"Ms. Carolina Netto , Ms. Marília Paiva dos Santos , Mr. Arnoldo Antelo Retamoso , Ms. Camila Dutra Caetano , Dr. Marcelo Sperandio , Dr. Victor Montalli , Dr. Paulo Moraes","doi":"10.1016/j.oooo.2024.04.034","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.034","url":null,"abstract":"<div><h3>Introduction</h3><p>Acute Myeloid Leukemia (AML), a malignant neoplasm characterized by the rapid proliferation of abnormal cells in the bone marrow, often manifests oral signs such as gingival bleeding and purple-colored gum hyperplasia. This clinical case underscores the pivotal role of dentists in diagnosing AML, shedding light on the nuanced presentation of hematological diseases in the oral cavity.</p></div><div><h3>Case Report</h3><p>A 57-year-old Caucasian female with a history of fibromyalgia and current use of Fluoxetine and Amitriptyline presented with a chief complaint of gum pain and bleeding persisting for 60 days. Clinical examination revealed distinctive purple hemorrhagic gingival hyperplasia, prompting a comprehensive evaluation. Initial investigations, including a full blood count, clotting profile, and HIV serology (suspected Kaposi's sarcoma), returned within normal parameters. Recognizing the potential severity of the oral manifestation, the patient was promptly referred for oncology-hematology assessment. Given the suspicion of an underlying hematologic condition, an incisional biopsy was performed, revealing a diagnosis of Acute Myeloid Leukemia. This diagnosis, unexpected in the absence of abnormal laboratory findings, underscores the imperative role of dental professionals in early detection and referral.</p></div><div><h3>Conclusion</h3><p>This case serves as a compelling example highlighting the significance of dental professionals in identifying potentially life-threatening oral lesions, even when routine laboratory tests appear normal. The timely and astute recognition of aberrant oral presentations can expedite referral to specialized medical care, significantly influencing patient outcomes. In essence, the presented case reinforces the critical collaboration between dentists and oncology-hematology specialists, emphasizing the need for a comprehensive understanding of oral manifestations of systemic diseases. This interdisciplinary approach contributes not only to the prompt diagnosis of potentially severe conditions like AML but also to the overall well-being of the patient.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Pages e39-e40"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605743","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}
Dr. Jessica Li , Prof Indraneel Bhattacharyya , Dr. Sarah Fitzpatrick , Dr. John Mazzuoccolo , Prof. Mohammed Islam
{"title":"Odontogenic Myxoma in a Patient with MEN2A Syndrome","authors":"Dr. Jessica Li , Prof Indraneel Bhattacharyya , Dr. Sarah Fitzpatrick , Dr. John Mazzuoccolo , Prof. Mohammed Islam","doi":"10.1016/j.oooo.2024.04.040","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.040","url":null,"abstract":"<div><h3>Introduction</h3><p>Odontogenic myxoma is considered to originate from the odontogenic ectomesenchyme. The tumor can involve any age group, but is predominantly seen in young adults. Here we present a patient with odontogenic myxoma with a history of multiple endocrine neoplasia type 2A (MEN2A). To the best of our knowledge, odontogenic myxoma has not been previously reported in a patient with a MEN2A history.</p></div><div><h3>Case presentation</h3><p>A 14-year-old female with a known history of MEN2A, presented with a painless bony expansion and radiolucency with fine residual bone trabeculae arranged at right angles to one another between teeth #4 and #5. Upon biopsy a diagnosis of odontogenic myxoma was rendered. MEN2A is an autosomal dominant syndrome characterized by clinically aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid hyperplasia, or adenoma. Therefore, as the standard of care for the MTC includes prophylactic total thyroidectomy, it was undertaken in this patient at an early age. For the odontogenic myxoma, the patient was treated with enucleation and curettage. At 2 years post-resection follow-up, the patient was disease-free.</p></div><div><h3>Conclusion</h3><p>It is unclear if the odontogenic myxoma in this patient was associated with previously diagnosed MEN2A syndrome or incidental, but the possibility of associated mesenchymal tissue tumors should be considered in patients with history of syndromic conditions. Although odontogenic myxoma is a benign lesion, because of its high recurrence rate and locally aggressive clinical behavior, periodic follow-up is necessary for at least 5 years post-treatment. Despite the high recurrence rate of 25% as reported in the literature, the prognosis largely remains good.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Pages e41-e42"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605748","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":"Optimization of an assay to measure chemosensory changes that accompany oral cancer","authors":"Ms. Leticia Arbex , Ms. Shailee Patel , Ms. Valeria Gonzalez-Barros Rubio , Dr. Aditi Bhattacharya","doi":"10.1016/j.oooo.2024.04.044","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.044","url":null,"abstract":"<div><h3>Introduction</h3><p>Oral cancer patients suffer severe mechanical and function related pain. Some patients report increased sensitivity to spicy, pungent and acidic foods. Pain is attributed to neuronal sensitization by the release of chemical mediators from the cancer and cancer microenvironment. Pain mediators activate and sensitize multiple transient receptor potential (TRP) ion channels including TRP ankyrin 1 (TRPA1). TRPA1 is co-expressed and localized with other TRP channels to a subpopulation of primary sensory neurons of the trigeminal ganglia detecting noxious thermal, mechanical and chemical stimuli. This study was designed to evaluate chemosensory changes due to sensitization of the TRPA1 ion channel in preclinical models.</p></div><div><h3>Materials and Methods</h3><p>A two bottle choice drinking assay was used to evaluate aversion to the TRPA1 agonist, allyl isothiocyanate (AITC), which is responsible for the pungent taste of mustard, horseradish and wasabi. Fifty, naive wild type female mice (C57BL/6) were single housed. Liquid intake over 5 day periods was measured from two drinking bottles one with AITC dissolved in dimethyl sulfoxide (DMSO), and the other vehicle (0.25% DMSO). Five AITC concentrations (0.06 mM, 0.1 mM, 0.25 mM, 0.5 mM and 1mM) were tested (n = 10 mice per group). Positions of the bottles were exchanged daily to avoid habituation.</p></div><div><h3>Results</h3><p>Naive female mice demonstrated statistically significant aversion to AITC concentrations 0.25 mM (p= 0.0001), 0.5 mM (p ≤ 0.0001) and 1mM (p ≤ 0.0001), two way ANOVA, Tukey's multiple comparisons test . Mice offered lower AITC concentrations did not show significant aversion.</p></div><div><h3>Conclusions</h3><p>Naive mice demonstrated significant aversion to AITC concentrations ≥ 0.25 mM. Additional testing is being performed in tongue cancer bearing mice. Aversion to a non-aversive concentration of AITC (≤ 0.1 mM) is expected to identify the change in chemosensitivity and difference between sensitive vs. non sensitive cancers.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e43"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604896","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}
Dr. Yeon-Whan Choe , Dr. Scott Steward-Tharp , Dr. James Jeong , Dr. Kartik Viswanathan , Dr. Dan Lubin , Dr. Gary Bouloux , Dr. Kelly Magliocca
{"title":"Characterization of Histological Overlap Between Surgical Ciliated Cyst, Frontal-Ethmoidal Sinonasal Mucocele and Nasopalatine Duct Cyst","authors":"Dr. Yeon-Whan Choe , Dr. Scott Steward-Tharp , Dr. James Jeong , Dr. Kartik Viswanathan , Dr. Dan Lubin , Dr. Gary Bouloux , Dr. Kelly Magliocca","doi":"10.1016/j.oooo.2024.04.047","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.047","url":null,"abstract":"<div><h3>Introduction</h3><p>Surgical ciliated cyst (SCiC) represents a late-occurring complication related to prior midface surgery or trauma, often presenting years even decades after the initial event. In the absence of correlative clinical history and imaging, distinguishing SCiC from similar appearing entities such as nasopalatine duct cyst (NPDC) or sinonasal mucocele (MC) may present a diagnostic challenge.</p></div><div><h3>Materials and Methods</h3><p>A retrospective search for patients diagnosed with SCiC, frontoethmoidal MC and NPDC at one institution between 2005 and 2022 was conducted. Clinical and imaging data were retrospectively reviewed and histopathologic features were analyzed and compared. Maxillary sinus mucoceles were excluded.</p></div><div><h3>Results</h3><p>Twenty-nine cases of SCiC, 11 frontoethmoidal MC and 8 NPDC with available slides were reviewed. While age at presentation was similar across these entities, SCiC showed a predilection for females in contrast to MC and NPDC. Microscopically, the cystic lesions showed histologic overlap if lined by atrophic squamoid epithelium with subepithelial fibrosis or hyalinization; a feature most common to SCiC (86%) and MC (82%), but also over half of NPDC cases. Respiratory (ciliated) epithelium was present within the specimens across all 3 entities. Seromucinous glands were identified in all 3 cohorts, but most frequently seen in MC (91%) compared to NPDC (3%) and SCiC (1 case). Cartilage was never identified in SCiC specimens, and skeletal muscle was never identified in MC. Well developed stratified squamous epithelium helped to distinguish NPDC (present) from SCiC and MC (absent).</p></div><div><h3>Conclusions</h3><p>While SCiC, NDPC, and frontoethmoidal MC demonstrate areas of histologic overlap, several histological contextual clues including assessment for cartilage, seromucinous tissue, skeletal muscle, and well-developed/mature stratified squamous epithelium may be diagnostically helpful, even in the absence of correlative clinical history and imaging. Additional study to include maxillary sinus mucoceles and antral pseudocysts will be essential to improve the practical utility of these findings.</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":"141604914","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}
Prof Pablo Agustin Vargas , Dr. Maria Eduarda Pérez-de-Oliveira , Dr. Vivian Petersen Wagner , Prof. Colin David Bingle , Prof. Lynne Bingle
{"title":"Effects of CREB inhibitor in mucoepidermoid carcinoma cell lines","authors":"Prof Pablo Agustin Vargas , Dr. Maria Eduarda Pérez-de-Oliveira , Dr. Vivian Petersen Wagner , Prof. Colin David Bingle , Prof. Lynne Bingle","doi":"10.1016/j.oooo.2024.04.049","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.049","url":null,"abstract":"<div><h3>Introduction</h3><p>Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor and about 50% of cases have the CRTC1-MAML2 translocation. The CREB pathway has been associated with the transforming activity of CRTC1-MAML2. The aim of this study was to determine the effects of CREB inhibition on MECs cells behavior in vitro.</p></div><div><h3>Material and Methods</h3><p>Two translocation-positive (UM-HMC-2 and H292) and one translocation-negative (H253) MEC cell lines were treated with the CREB-inhibitor, 666.15.</p><p>Drug IC50 doses were determined for each cell line. Clonogenic and sphere assays were used to assess survival and percentage of cancer stem cells (CSC) and transwell and scratch assays to evaluate the cells invasive and migratory capacity. Immunofluorescence staining was used to analysed the E-cadherin expression upon CREB-inhibitor administration.</p></div><div><h3>Results</h3><p>The drug significantly reduced the number of surviving colonies and spheres and invasion, and delayed cell invasion in all cell lines, particularly for UM-HMC-2 cells. The expression of E-cadherin was significant higher in treated UM-HMC-2 and H292 cells.</p></div><div><h3>Conclusions</h3><p>CREB inhibition efficiently impaired MEC key oncogenic behavior associated with metastasis and drug resistance, such as cell invasion and survival, respectively.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e45"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604916","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}
Prof Christos Yapijakis , Prof Evangelia Pιperi , Dr. Konstantinos Tzanavaris , Dr. Efstathios Pettas , Prof. Maria Georgaki , Prof. Nikolaos G. Nikitakis
{"title":"Gnathodiaphyseal Dysplasia: report of a rare case with a de novo insertion mutation of ANO5 gene and review of the literature.","authors":"Prof Christos Yapijakis , Prof Evangelia Pιperi , Dr. Konstantinos Tzanavaris , Dr. Efstathios Pettas , Prof. Maria Georgaki , Prof. Nikolaos G. Nikitakis","doi":"10.1016/j.oooo.2024.04.053","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.053","url":null,"abstract":"<div><h3>Introduction</h3><p>Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder caused by point mutations in anoctamin 5 (ANO5) gene (11p14.3), characterized by sclerosis of the tubular bones and benign fibro-osseous (BFO) lesions of the jaws. GDD may also occur sporadically due to missense mutations, while de novo ANO5 insertion mutations have only been rarely described.</p></div><div><h3>Case description</h3><p>A 10-year-old boy presented for evaluation of asymptomatic radiopaque lesions involving the posterior mandible, bilaterally. Multiple bone biopsies were performed with features of BFO. Sequential imaging with panoramic radiographs and cone beam computer tomography scans for the next 3 years revealed that the lesions gradually increased in size, whereas multiple new distinct hyperdense areas with relatively well-defined borders throughout both jaws were observed. Eventually, painful symptoms developed in the area of the left TMJ, associated with the development of lesions in the left mandibular condyle. Genetic evaluation of the patient's family history of four generations did not render evidence of a hereditary condition, while craniognathic radiographic examination of both parents was normal. Further molecular investigation with Whole Exome Sequencing in DNA isolated from a whole blood sample detected a heterozygous insertion mutation in the ANO5 gene. Taken together, a final diagnosis of GDD with a de novo ANO5 mutation was rendered.</p></div><div><h3>Conclusions</h3><p>GDD is characterized by genetic disruption of ANO5, a calcium-activated chloride channel, usually caused by inherited single amino-acid substitutions, resulting in impaired osteoclastogenesis. GDD with a de novo insertion mutation in ANO5, as in our case, has been described only once before. The exact pathogenesis of GDD remains unclear, necessitating further studies to elucidate the whole genetic and phenotypic spectrum of the disorder. A multidisciplinary approach to diagnosis with involvement of oral and maxillofacial pathologists, radiologists and geneticists is mandatory.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Pages e46-e47"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605103","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}
Dr. Bayan Alhaddad, Ms. Eileen Kasperek, Dr. Jill M Kramer
{"title":"IL-36 family cytokines induce immune activation in primary Sjogren's disease","authors":"Dr. Bayan Alhaddad, Ms. Eileen Kasperek, Dr. Jill M Kramer","doi":"10.1016/j.oooo.2024.04.017","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.017","url":null,"abstract":"<div><p>Primary Sjogren's disease (pSD) is a chronic autoimmune disease. Patients often experience dry eyes and mouth in addition to extra-glandular manifestations. In pSD, underlying disease mechanisms remain poorly understood and no curative therapies are available. Myd88 is a cytosolic adapter molecule that is utilized by both innate and adaptive immunity. While Myd88 is required for pSD pathogenesis, the mediators of Myd88 activation are not well understood in this disease. IL-36 family cytokines (IL-36a, IL-36b, and IL-36g) rely on Myd88 for signaling. These cytokines mediate inflammation in other autoimmune diseases, but the role of these cytokines in pSD is unknown. Our objective was to investigate the role of IL-36 cytokines in pSD using a mouse model and patient samples. We isolated spleens from pSD mice and healthy controls. Splenocytes were cultured overnight in media alone, or media containing IL-36α, IL-36β, or IL36γ. Cells and supernatants were harvested and flow cytometry, ELISAs, and cytokine multiplex arrays were performed. In addition, we performed ELISAs on sera from pSD patients and controls to quantify levels of IL-36α, IL-36β, and IL36γ. Our results revealed that IL-36 family cytokines induced elevated expression of the activation markers CD69 and CD86 in B cells from pSD mice as compared to those from controls. Moreover, the pro-inflammatory cytokines IFNγ, IL-1α, IL-1β, IL-6, IL-12 p70 and GM-CSF were increased in pSD splenocyte cultures following stimulation with IL-36 family cytokines as compared to those from controls. Finally, sera from pSD patients displayed elevated levels of IL-36α and IL36γ as compared to non-pSD controls. In conclusion, our study shows that IL-36 family cytokines can induce heightened immune activation in the context of pSD and pSD patients have elevated levels of IL-36 family cytokines in sera. Thus, targeting of IL-36 signaling networks may represent a novel therapeutic strategy for patients with pSD.</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":"141605442","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}
Prof Evangelia Pιperi , Dr. Konstantinos Tzanavaris , Prof. Maria Georgaki , Dr. Dimitrios Velonis , Prof. Emmanouil Vardas , Prof. Nikolaos G. Nikitakis
{"title":"ORAL DESMOPLASTIC GRANULAR CELL TUMOR: PRESENTATION OF A RARE VARIANT.","authors":"Prof Evangelia Pιperi , Dr. Konstantinos Tzanavaris , Prof. Maria Georgaki , Dr. Dimitrios Velonis , Prof. Emmanouil Vardas , Prof. Nikolaos G. Nikitakis","doi":"10.1016/j.oooo.2024.04.054","DOIUrl":"https://doi.org/10.1016/j.oooo.2024.04.054","url":null,"abstract":"<div><h3>Background</h3><p>Granular Cell Tumor (GCT) is a benign soft tissue neoplasm that shows a predilection for the dorsal tongue. Desmoplastic GCT (DGCT) represents an unusual histopathologic variant, most often observed on skin and only rarely seen intraorally. Herein, we present a case of oral DGCT and discuss the role of desmoplasia in the diagnosis and biologic behavior of this rare lesion.</p></div><div><h3>Case Description</h3><p>A 47-year-old male presented for evaluation of a tongue mass first noticed 10 days ago. Clinical examination revealed a painless, well-circumscribed, broad-based, elastic, submucosal tumor covered by normal mucosa, on the posterior dorsal surface of the tongue. With a provisional diagnosis of GCT or other soft tissue tumor, an excisional biopsy was performed. Histopathologically, variably-sized scattered syncytial aggregates of large polygonal or spindle-shaped cells with abundant eosinophilic, granular cytoplasm and small vesicular nuclei were observed, set in a densely collagenized connective tissue stroma; close proximity of neoplastic cells to skeletal musculature was also noted at the surgical margins, while the lesion was nonencapsulated, covered by hyperplastic epithelium. Immunohistochemical evaluation showed S-100 focal positivity, while EMA and GFAP stains were negative. A diagnosis of DGCT was rendered.</p></div><div><h3>Discussion and Conclusions</h3><p>Stromal desmoplasia usually develops as a reaction to local trauma, whereas it may also be seen in various neoplasms. Desmoplasia in cutaneous DGCT has been attributed to chronicity; further, the tongue is a common site of injury, which could possibly provoke the desmoplastic changes observed. A better clinicopathologic characterization of this rare GCT variant is warranted.</p></div>","PeriodicalId":49010,"journal":{"name":"Oral Surgery Oral Medicine Oral Pathology Oral Radiology","volume":"138 2","pages":"Page e47"},"PeriodicalIF":2.0,"publicationDate":"2024-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141605727","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}