Dataset Information

Pediatric odontogenic keratocyst and early diagnosis of Gorlin syndrome: Clinicopathological aids.

ABSTRACT: Odontogenic keratocysts (OKCs) are a common presentation in almost all patients with nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome, irrespective of race. In most patients with NBCCS, OKC presents as multiple lesions affecting the jaws which makes it a signpost for the investigation of patients with the syndrome. In approximately 40% of pediatric patients, the initial presentation is that of a single OKC, which may often result in missing the diagnosis of NBCCS. This is particularly common in patients without clinically apparent NBCCS-related manifestations. This review examines the clinicopathological features that clinicians and oral pathologists may look for in pediatric patient with OKC and OKC surgical specimens that may serve as indicators for the diagnosis of NBCCS. Although these features do not diagnose NBCCS by themselves, they may significantly help in initiating the diagnostic process at an early stage with an obvious benefit to the child and relatives.

SUBMITTER: Bello IO

PROVIDER: S-EPMC10874797 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature

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Pediatric odontogenic keratocyst and early diagnosis of Gorlin syndrome: Clinicopathological aids.

Bello Ibrahim Olajide IO

The Saudi dental journal 20231018 1

Odontogenic keratocysts (OKCs) are a common presentation in almost all patients with nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome, irrespective of race. In most patients with NBCCS, OKC presents as multiple lesions affecting the jaws which makes it a signpost for the investigation of patients with the syndrome. In approximately 40% of pediatric patients, the initial presentation is that of a single OKC, which may often result in missing the diagnosis of NBCCS. This is particul ...[more]

PMID: 38375374

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Project description:BackgroundAmeloblastoma and odontogenic keratocyst (OKC) are odontogenic tumors that develop from remnants of odontogenic epithelium. Both display locally invasive growth characteristics and high predilection for recurrence after surgical removal. Most ameloblastomas harbor BRAFV600E mutation while OKCs are associated with PATCH1 gene mutation but distinctive indicators of ameloblastoma growth characteristics relative to OKC are still unclear. The aim of this study was to assess hub genes that underlie ameloblastoma growth characteristics using bioinformatic analysis, ameloblastoma samples and mouse xenografts of human epithelial-derived ameloblastoma cells.MethodsRNA expression profiles were extracted from GSE186489 gene expression dataset acquired from Gene Expression Ominibus (GEO) database. Galaxy and iDEP online analysis tools were used to identify differentially expressed genes that were further characterized by gene ontology (GO) and pathway analysis using ShineyGO. The protein-protein interaction (PPI) network was constructed for significantly upregulated differentially expressed genes using online database STRING. The PPI network visualization was performed using Cytoscape and hub gene identification with cytoHubba. Top ten nodes were selected using maximum neighborhood component, degree and closeness algorithms and analysis of overlap was performed to confirm the hub genes. Epithelial-derived ameloblastoma cells from conventional ameloblastoma were transplanted into immunocompromised mice to recreate ameloblastoma in vivo based on the mouse xenograft model. The top 3 hub genes FN1, COL I and IGF-1 were validated by immunostaining and quantitative analysis of staining intensities to ameloblastoma, OKC samples and mouse ameloblastoma xenografts tissues.ResultsSeven hub genes were identified among which FN1, COL1A1/COL1A2 and IGF-1 are associated with extracellular matrix organization, collagen binding, cell adhesion and cell surface interaction. These were further validated by positive immunoreactivity within the stroma of ameloblastoma samples but both ameloblastoma xenograft and OKC displayed only FN1 and IGF-1 immunoreactivity while COL 1 was unreactive. The expression levels of both FN1 and IGF-1 were much lower in OKC relative to ameloblastoma.ConclusionThis study further validates a differentially upregulated expression of matrix proteins FN1, COL I and IGF-1 in ameloblastoma relative to OKC. It suggests that differential stromal architecture and growth characteristics of ameloblastoma relative to OKC could be an interplay of differentially upregulated genes in ameloblastoma.

Project description:BackgroundOdontogenic keratocyst (OKC) is a relatively common odontogenic lesion characterized by local invasion in the maxillary and mandibular bones. In the pathological tissue slices of OKC, immune cell infiltrations are frequently observed. However, the immune cell profile and the molecular mechanism for immune cell infiltration of OKC are still unclear. We aimed to explore the immune cell profile of OKC and to explore the potential pathogenesis for immune cell infiltration in OKC.MethodsThe microarray dataset GSE38494 including OKC and oral mucosa (OM) samples were obtained from the Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) in OKC were analyzed by R software. The hub genes of OKC were performed by protein-protein interaction (PPI) network. The differential immune cell infiltration and the potential relationship between immune cell infiltration and the hub genes were performed by single-sample gene set enrichment analysis (ssGSEA). The expression of COL1A1 and COL1A3 were confirmed by immunofluorescence and immunohistochemistry in 17 OKC and 8 OM samples.ResultsWe detected a total of 402 differentially expressed genes (DEGs), of which 247 were upregulated and 155 were downregulated. DEGs were mainly involved in collagen-containing extracellular matrix pathways, external encapsulating structure organization, and extracellular structure organization. We identified ten hub genes, namely FN1, COL1A1, COL3A1, COL1A2, BGN, POSTN, SPARC, FBN1, COL5A1, and COL5A2. A significant difference was observed in the abundances of eight types of infiltrating immune cells between the OM and OKC groups. Both COL1A1 and COL3A1 exhibited a significant positive correlation with natural killer T cells and memory B cells. Simultaneously, they demonstrated a significant negative correlation with CD56dim natural killer cells, neutrophils, immature dendritic cells, and activated dendritic cells. Immunohistochemistry analysis showed that COL1A1 (P = 0.0131) and COL1A3 (P < 0.001) were significantly elevated in OKC compared with OM.ConclusionsOur findings provide insights into the pathogenesis of OKC and illuminate the immune microenvironment within these lesions. The key genes, including COL1A1 and COL1A3, may significantly impact the biological processes associated with OKC.

Dataset Information

Pediatric odontogenic keratocyst and early diagnosis of Gorlin syndrome: Clinicopathological aids.

Publications

Pediatric odontogenic keratocyst and early diagnosis of Gorlin syndrome: Clinicopathological aids.

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