Journal of Oral Pathology & Medicine最新文献

{"title":"Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.","authors":"Jiang Xue, Jianyun Zhang, Ming Ma, Xuefen Li, Lisha Sun, Ruirui Shi, Tiejun Li","doi":"10.1111/jop.13599","DOIUrl":"https://doi.org/10.1111/jop.13599","url":null,"abstract":"<p><strong>Background: </strong>Fibrous dysplasia (FD), caused by activating mutations of GNAS, is a skeletal disorder with considerable clinicopathological heterogeneity. Although prevalent mutations such as R201C and R201H dominate in FD, a limited number of rare mutations, including R201S, R201G, and Q227L, have been documented. The scarcity of information concerning these uncommon mutations motivates our investigation, seeking to enhance comprehension of this less-explored subgroup within FD.</p><p><strong>Methods: </strong>This study introduces three cases of craniofacial FD exhibiting rare GNAS mutations. Employing DNA sequencing on fresh frozen lesion tissues, we conducted a thorough analysis of clinical, radiological, and pathological features, delving into genotypic and phenotypic correlations. A comparative assessment with our previous series was also conducted.</p><p><strong>Results: </strong>In the subset of patients subjected to DNA sequencing, a novel GNAS missense mutation (Q227E) was identified in one case, while a rare GNAS mutation (R201S) in exon 8 was found in the other two patients. Although no apparent phenotypic distinctions were observed among those with GNAS hotspot mutations (R201C, R201H), a more severe phenotype was discerned in the case featuring the novel GNAS mutation Q227E.</p><p><strong>Conclusions: </strong>This study marks the first report of the Q227E mutation in the GNAS gene associated with bone disease, enriching our understanding of FD's genetic basis and shedding light on the clinicopathological heterogeneity of craniofacial FD.</p>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971230","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":"Astaxanthin Increases Tumor Suppressor Gene Expression and Affects Cellular Biological Behavior in Oral Dysplastic Keratinocytes by Regulating DNA Methylation","authors":"Peiyan Wang,&nbsp;Xiaofei Yu,&nbsp;Pei Sun,&nbsp;Keqing Pan,&nbsp;Jian Sun,&nbsp;Yiqing Guo,&nbsp;Zhaochen Liu,&nbsp;Mengyu Jiao,&nbsp;Jing Deng,&nbsp;Hui Zhang","doi":"10.1111/jop.13593","DOIUrl":"10.1111/jop.13593","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The inactivation of tumor suppressor genes (TSGs) caused by abnormal DNA methylation is confirmed to be widely present in oral potential malignant diseases (OPMDs). Carotenoids like lycopene and astaxanthin can regulate DNA methylation and exert anticancer effects. Therapeutic effect of astaxanthin in OPMDs and oral squamous cell carcinoma (OSCC) models is confirmed, but the relationship between the anti-cancer ability of astaxanthin and its DNA methylation regulation ability remains unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Whole-genome bisulfite sequencing (WGBS) were used to provide biological information associated with DNA methylation. Methylation specific PCR was used to detect the methylation level of specific sites. Related markers were evaluated by qRT-PCR and western blot. CCK8 assay, cell scratch assay, flow cytometric analysis were performed to investigate the cell viability, migration, cell cycle, and apoptosis after treated with concentrations of astaxanthin.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>WGBS revealed that <i>HOXA3</i> and <i>SOX1</i> were the TSGs with significant differences in promoter CpG methylation of oral dysplastic keratinocytes (DOK) cells. After treatment with 8 μM astaxanthin, the promoter CpG methylation levels of the TSGs were significantly reduced, resulting in the increase in gene expression. The overall effect of astaxanthin on DOK cells is inhibiting cell viability, reducing cell migration, leading to cell cycle G₀/G₁ arrest, and promoting apoptosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study confirmed significant differences in DNA methylation patterns among oral normal, dysplastic, and cancerous cells. Astaxanthin can reduce the promoter CpG methylation level of TSGs by reducing DNA methyltransferase 1 protein expression level, upregulating mRNA and protein expression, and subsequently modulating the biological behavior of DOK.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"39-48"},"PeriodicalIF":2.7,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818278","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":"Evaluation of the Participation of Brazilian Women in Research in Oral Pathology and Oral Medicine","authors":"Luiz Miguel Ferreira,&nbsp;João Pedro Santos Nascimento,&nbsp;Árlen Almeida Duarte de Sousa,&nbsp;Fabrício Emanuel Soares de Oliveira,&nbsp;Daniella Reis B. Martelli,&nbsp;Alan Roger Santos-Silva,&nbsp;Hercílio Martelli-Júnior","doi":"10.1111/jop.13598","DOIUrl":"10.1111/jop.13598","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Despite recent advancements, women still encounter significant challenges in various fields, including dentistry. However, the increasing interest in female participation in science acknowledges its fundamental role in the advancement of knowledge. This study aims to assess indicators of women's involvement in Brazilian research in the areas of Oral Pathology and Oral Medicine.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study evaluated 197 professionals affiliated with the Brazilian Society of Stomatology and Oral Pathology in 2023. Data were collected from publicly available Lattes curriculum and organized into three sets of information: researcher profile, scientific production and human resources formation. Both the data from the researcher's entire career and from the last 5 years (2019–2023) were assessed separately. Descriptive analyses of categorical variables were performed, while the Mann–Whitney test was employed to compare the numerical variables regarding researchers' gender.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 197 professionals, 117 (59.4%) were female. Although there was no significant difference in scientific production between genders, men had more publications, received approximately twice as many citations, and exhibited higher H-index values compared to women. Notably, women surpassed men in undergraduate student supervision, while men predominated in supervising master's and PhD students.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study highlighted the relevance of female participation in Oral Pathology and Oral Medicine research in Brazil. However, disparities persist regarding women participation, especially in scientific article citations and postgraduate students' supervision.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"65-69"},"PeriodicalIF":2.7,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801162","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":"Comment on “Diseases With Oral Malignant Potential: Need for Change to Inform Research, Policy, and Practice”","authors":"Ameya K. P.,&nbsp;Durairaj Sekar","doi":"10.1111/jop.13597","DOIUrl":"10.1111/jop.13597","url":null,"abstract":"","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"1-2"},"PeriodicalIF":2.7,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785730","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":"Correction “Curcumin Is Effective in Managing Oral Inflammation: An In Vitro Study”","authors":"","doi":"10.1111/jop.13590","DOIUrl":"10.1111/jop.13590","url":null,"abstract":"<p>M. Idrees, S. Maria Rajan, O. Kujan, <i>Journal of Oral Pathology &amp; Medicine</i> 53, no. 6 (2024): 376–385, https://doi.org/10.1111/jop.13547.</p><p>Following the publication of the above article, the authors have requested a change in the authorship on the paper, and the revised list of authors is presented above; essentially, the second intended author, Sheetal Maria Rajan (S.M.R.), was inadvertently omitted from the author list. S.M.R. contributed toward the conduct of the microbiology work. Therefore, the revised authors' names and affiliations, as they should have been presented in the original version of this paper, are as follows:</p><p>M. Idrees¹, S. Maria Rajan¹, O. Kujan¹\u0000 </p><p>\u0000 1 UWA Dental School, The University of Western Australia, Nedlands, Western Australia, Australia</p><p>\u0000 <i>Correspondence to</i>: Associate Professor Omar Kujan, UWA Dental School, The University of Western Australia, 17 Monash Avenue, Nedlands, 6009 WA, Australia. Email: <span>[email protected]</span>\u0000 </p><p>Present address: UWA Dental School, The University of Western Australia, 17 Monash Avenue, Nedlands, 6009 WA, Australia</p><p>Furthermore, the Author Contributions section should be amended to read as follows:</p><p>Author Contributions</p><p>\u0000 <i>Conceptualization</i>: O.K.; <i>Methodology</i>: M.I. and O.K.; <i>Validation</i>: M.I. and O.K.; <i>Investigation</i>: M.I., S.M.R. and O.K.; <i>Data curation</i>: M.I., S.M.R. and O.K.; <i>Writing—original draft preparation</i>: M.I. and O.K.; <i>Project administration</i>: O.K.; <i>Funding acquisition</i>: O.K. All authors have read and agreed to the published version of the manuscript.</p><p>All the authors agree with including Sheetal Maria Rajan as the author of this paper. They are grateful to the Editor for allowing them the opportunity to publish this Corrigendum. Furthermore, they apologize to the readership of the Journal for any inconvenience caused.</p>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"80"},"PeriodicalIF":2.7,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jop.13590","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Lipid Profile in Oral Submucous Fibrosis: A Systematic Review and Meta-Analysis","authors":"Shruti Gupta,&nbsp;Deepti Sharma,&nbsp;Anita Hooda,&nbsp;Mala Kamboj","doi":"10.1111/jop.13596","DOIUrl":"10.1111/jop.13596","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>An altered blood lipid profile has been considered as a diagnostic and/or prognostic marker for cancer. Since oral cancer is usually preceded by oral potentially malignant disorders (OPMDs) and share common etiopathogenesis, thus researchers have tried to explore the role of blood lipid profile as a marker for OPMDs; however, no consensus has been made regarding the utilization of serum lipid profile as a biomarker for oral submucous fibrosis (OSMF). Thus, the present article aimed to validate serum lipid profile as a biomarker for OSMF.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methodology</h3>\u0000 \u0000 <p>PubMed, Scopus, Google Scholar and Clinical key databases were searched for relevant articles. Thirty-six studies that met the eligibility criteria were included for qualitative review, however, out of these, 27 studies with specific data for OSMF and the control group were included in the meta-analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A significant reduction in very low-density lipoprotein (<i>p =</i> 0.042), low density lipoprotein (<i>p =</i> 0.006), high density lipoprotein (<i>p =</i> 0.020), triglyceride (<i>p =</i> 0.049) and total cholesterol (<i>p =</i> 0.009) levels in blood were observed in OSMF patients in comparison to healthy controls whereas no significant difference was seen in contrast to oral squamous cell carcinoma patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Although a significant alteration was observed in lipid levels in OSMF patients, considerable heterogeneity in all the studied parameters implies that blood lipid profile could not be used as a reliable biomarker for OSMF and require further investigation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"3-11"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769878","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":"Malformations vs. Neoplasia in the Oral Cavity: Special Emphasis on Mixed Odontogenic Tumors","authors":"Merva Soluk-Tekkesin,&nbsp;Ronell Bologna-Molina,&nbsp;Kelly Magliocca,&nbsp;Willie van Heerden,&nbsp;Liam Robinson,&nbsp;Elizabeth Ann Bilodeau,&nbsp;Haizal Mohd Hussaini,&nbsp;Akinyele Olumuyiwa Adisa,&nbsp;Wanninayake Mudiyanselage Tilakaratne,&nbsp;Jiang Li,&nbsp;Keith David Hunter,&nbsp;Ricardo Santiago Gomez","doi":"10.1111/jop.13592","DOIUrl":"10.1111/jop.13592","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The terminology surrounding developmental lesions in the oral cavity is widely applied, often leading to confusion in differentiating between developmental malformations and neoplasia. Odontogenic tumor classification includes both true neoplasms and malformations which make it very complex and dynamic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method and Conclusion</h3>\u0000 \u0000 <p>In this brief report, we will first discuss the concepts of malformations and neoplasia and then focusing on their relevance to odontogenic tumors, which impacts their classification and treatment, particularly mixed odontogenic lesions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"76-79"},"PeriodicalIF":2.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769882","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 Mechanism of Immune Intervention by Iguratimod in Oral Lichen Planus Patients: An In Vitro Experimental Study","authors":"Mengna Zhang,&nbsp;Juehua Cheng,&nbsp;Jia Liu,&nbsp;Yanlin Geng,&nbsp;Yuan Fan,&nbsp;Liqun Yang,&nbsp;Yuchi Zhu","doi":"10.1111/jop.13591","DOIUrl":"10.1111/jop.13591","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Oral lichen planus (OLP) is a T cell-mediated immune disease. Iguratimod (IGU) is a novel immunomodulatory agent for rheumatoid arthritis. No studies have been reported on the mechanism of IGU in the treatment of OLP, which deserves investigation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Samples were collected from two batches of non-erosive OLP, erosive OLP (EOLP) patients and healthy control subjects. In the first batch, the effects of IGU or the same volume of dimethyl sulfoxide (DMSO) on proliferation, apoptosis and migration of peripheral blood T lymphocytes (PBL T) were examined by CCK-8, flow cytometry and transwell assay respectively. The levels of IL-6, IL-17, TNF-α, TGF-β and IL-10 were measured by enzyme-linked immunosorbent assay. In the second batch, the percentages of Th17 and Treg cells were determined by flow cytometry in peripheral blood mononuclear cells after IGU or DMSO stimulation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Compared with the control, IGU promoted apoptosis and inhibited migration, but had no significant effect on the proliferation of PBL T in OLP. IL-6, IL-17 and TNF-α were decreased in OLP. TGF-β and IL-10 showed an upward trend in the IGU-treated EOLP. IGU decreased Th17 in OLP and reduced Th17/Treg ratio in EOLP. The percentage of Treg cells showed an upregulated trend but the difference was not statistically significant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>IGU may intervene in the immune response of OLP by affecting functions of PBL T, improving the balance of Th17/Treg and regulating related cytokines.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"31-38"},"PeriodicalIF":2.7,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751034","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":"Molecular Insights Into Actinic Cheilitis and Lower Lip Squamous Cell Carcinoma: AURKA and AURKB Amplifications and Their Association With Tumor Microenvironment","authors":"Vinícius Gonçalves de Souza,&nbsp;Ismael Gomes da Rocha,&nbsp;Sérgio Vitorino Cardoso,&nbsp;Adriano Mota Loyola,&nbsp;Carla Silva Siqueira,&nbsp;Fábio Morato de Oliveira","doi":"10.1111/jop.13595","DOIUrl":"10.1111/jop.13595","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Lip exposure to carcinogens lead to several disorders, such as actinic cheilitis (AC) and lower lip squamous cell carcinoma (LLSCC). Although several studies have described important pathways in lip carcinogenesis, the comprehension of association of target genes in this process and their association with tumor microenvironment still need to be better understood.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Tissue samples of 30 AC and 17 LLSCC cases were included for histopathological analysis, immunohistochemical expression of CD4, CD8, and PD-L1, and fluorescence in situ hybridization for <i>AURKA</i>, <i>AURKB</i>, <i>TP53</i>, <i>PTEN</i>, <i>CCND1</i>, and <i>MYC</i>. Non-parametrical tests were done and <i>p</i> &lt; 0.05 was considered significant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>LLSCC patients presented higher amplifications of <i>AURKA</i> and <i>AURKB</i>, deletion of <i>TP53</i>, and <i>PTEN</i> and rearrangements of <i>MYC</i> than AC. <i>AURKA</i>, <i>AURKB</i>, <i>TP53</i>, <i>PTEN</i>, and <i>CCND1</i> changes were correlated with PD-L1 expression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>\u0000 <i>AURKA</i> and <i>AURKB</i> amplifications and other gene changes are pointed by their association of lip disorders.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"49-56"},"PeriodicalIF":2.7,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142750938","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":"Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel","authors":"Itsuki Hideshima,&nbsp;Yuriko Nakamura,&nbsp;Shoko Onodera,&nbsp;Yoshihiko Akashi,&nbsp;Kenichi Matsuzaka,&nbsp;Masayuki Takano,&nbsp;Takeshi Nomura,&nbsp;Akira Katakura,&nbsp;Toshifumi Azuma","doi":"10.1111/jop.13586","DOIUrl":"10.1111/jop.13586","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Odontogenic keratocyst (OKC) is a partial manifestation of Gorlin syndrome (GS), resulting from the abnormal activation of the hedgehog signaling pathway. OKC predominantly occurs in young adults and is mostly asymptomatic at the time of initial diagnosis. As OKC is asymptomatic, GS can be challenging to diagnose in certain instances. In this study, we attempted to identify asymptomatic GS from sporadic OKC cases using a previously developed gene panel for GS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Genomic DNA was extracted from patient samples. These DNA samples were analyzed using the AmpliSeq Custom DNA Panel (Illumina), which was specifically designed to target four previously established genes (<i>PTCH1</i>, <i>PTCH2</i>, <i>SMO</i>, and <i>SUFU</i>). Mutations from patients were predicted using tools, such as MutationTaster, CADD, and Polyphen-2.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Thirty-one patients with OKC were included: 22 sporadic, 9 syndromic, 14 cases with dentigerous cysts, and 3 patients with orthokeratinized odontogenic cysts. One patient with sporadic OKC carried 50% genetic mutation in the cyst and blood, indicative of GS. <i>PTCH1</i> mutations were found in one of the 14 patients with dentigerous cysts, 3 of the 17 first-time sporadic cases, and all four recurrent cases. Resected OKC tissues revealed a <i>PTCH1</i> mutation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We found one patient with GS from those diagnosed with sporadic OKC. Our findings suggest that <i>PTCH1</i> mutations are associated with postoperative recurrence of OKC, implying that hedgehog-related gene variations may contribute to jaw cyst development and improve the prognosis of OKC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":16588,"journal":{"name":"Journal of Oral Pathology & Medicine","volume":"54 1","pages":"12-21"},"PeriodicalIF":2.7,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710424","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}