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Archives of Pathology & Laboratory... Jun 2014Some dental abnormalities have environmental causes. Other odontogenic alterations are idiopathic and may have hereditary etiologies. Investigations of these conditions... (Review)
Review
CONTEXT
Some dental abnormalities have environmental causes. Other odontogenic alterations are idiopathic and may have hereditary etiologies. Investigations of these conditions are ongoing.
OBJECTIVE
To provide a discussion of developmental odontogenic abnormalities and benign odontogenic overgrowths and neoplasms for which genetic alterations have been well demonstrated and well documented.
DATA SOURCES
Relevant peer-reviewed literature.
CONCLUSIONS
The understanding of benign odontogenic lesions at a molecular level is rather well developed for some lesions and at the initial stages for many others. Further characterization of the molecular underpinnings of these and other odontogenic lesions would result in an enhanced comprehension of odontogenesis and the pathogenesis of a variety of odontogenic aberrations. These advancements may lead to better prevention and treatment paradigms and improved patient outcomes.
Topics: Ameloblastoma; Amelogenesis Imperfecta; Anodontia; Dentin Dysplasia; Dentinogenesis Imperfecta; Humans; Mutation; Odontogenesis; Odontogenic Cysts; Odontogenic Tumors; Odontoma; Tooth Abnormalities; Tooth, Supernumerary
PubMed: 24878015
DOI: 10.5858/arpa.2013-0057-SA -
BMC Oral Health Aug 2023Ameloblastic carcinoma and metastasising ameloblastoma are rare epithelial odontogenic tumours with aggressive features. Distinguishing between these two lesions is... (Review)
Review
BACKGROUND
Ameloblastic carcinoma and metastasising ameloblastoma are rare epithelial odontogenic tumours with aggressive features. Distinguishing between these two lesions is often clinically difficult but necessary to predict tumour behaviour or to plan future therapy. Here, we provide a brief review of the literature available on these two types of lesions and present a new case report of a young man with an ameloblastoma displaying metastatic features. We also use this case to illustrate the similarities and differences between these two types of tumours and the difficulties of their differential diagnosis.
CASE PRESENTATION
Our histopathological analyses uncovered a metastasising tumour with features of ameloblastic carcinoma, which developed from the ameloblastoma. We profiled the gene expression of Wnt pathway members in ameloblastoma sample of this patient, because multiple molecules of this pathway are involved in the establishing of cell polarity, cell migration or for epithelial-mesenchymal transition during tumour metastasis to evaluate features of tumor behaviour. Indeed, we found upregulation of several cell migration-related genes in our patient. Moreover, we uncovered somatic mutation BRAF p.V600E with known pathological role in cancerogenesis and germline heterozygous FANCA p.S858R mutation, whose interpretation in this context has not been discussed yet.
CONCLUSIONS
In conclusion, we have uncovered a unique case of ameloblastic carcinoma associated with an alteration of Wnt signalling and the presence of BRAF mutation. Development of harmful state of our patient might be also supported by the germline mutation in one FANCA allele, however this has to be confirmed by further analyses.
Topics: Male; Humans; Ameloblastoma; Proto-Oncogene Proteins B-raf; Odontogenic Tumors; Mutation; Carcinoma
PubMed: 37573343
DOI: 10.1186/s12903-023-03259-6 -
Cureus Oct 2023Ameloblastoma is one of the most prevalent but enigmatic benign odontogenic tumors of the jaw, accounting for approximately 10% of all maxillary and mandibular tumors.... (Review)
Review
Ameloblastoma is one of the most prevalent but enigmatic benign odontogenic tumors of the jaw, accounting for approximately 10% of all maxillary and mandibular tumors. This neoplasia is distinguished by exhibiting several clinical and histological variants along with several mutations that affect its behavior. The ameloblastoma treatment plan is determined by the tumor's size, anatomical location, histologic variant, and anatomical involvement. On chromosome 7, there is a proto-oncogene called BRAF. When BRAF is mutated, it becomes an oncogene and continuously produces proteins like MEK and ERK, members of mitogen-activated protein kinase (MAPK). In the signaling pathway, these proteins activate transcription factor inside the nucleus that helps in cell division and growth. Numerous neoplasms have been linked to more than 40 BRAF mutations. The most common one is BRAF proto-oncogene serine/threonine kinase (BRAF) V600E, whose treatment has been linked to a positive outcome. BRAF inhibitors like vemurafenib, dabrafenib, and sorafenib have shown excellent results, especially in metastatic ameloblastoma. BRAF, particularly in the case of metastatic ameloblastoma, inhibitors such as vemurafenib, dabrafenib, and sorafenib, has demonstrated outstanding results. Targeted therapies have been employed as adjuvant therapies to enhance cosmetic outcomes, even though no reports of serial cases demonstrate their effectiveness in ameloblastomas. In the treatment of ameloblastomas, the identification of BRAF V600E and additional mutations as the prime targeted therapies has proven to be a significant breakthrough where surgical treatment was contraindicated. In this article, we review the presence of BRAF V600E mutations, their inhibitors, and targeted therapies in ameloblastoma.
PubMed: 38021761
DOI: 10.7759/cureus.47682 -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2022Ameloblastomas are benign odontogenic tumors that can eventually mimic the clinical and radiological features of apical periodontitis. The aim of the present study was...
BACKGROUND
Ameloblastomas are benign odontogenic tumors that can eventually mimic the clinical and radiological features of apical periodontitis. The aim of the present study was to evaluate the clinical, radiological and histological characteristics from a series of ameloblastomas mimicking apical periodontitis diagnosed in a 14-year period.
MATERIAL AND METHODS
all cases histologically diagnosed as ameloblastomas from 2005 to 2018 presenting a clinical diagnosis of periapical lesion of endodontic origin were selected for the study. Clinical, radiological and histological characteristics from all cases were tabulated and descriptively and comparatively analyzed.
RESULTS
Twenty cases composed the final sample, including 18 solid and 2 unicystic ameloblastomas. Mean age of the affected patients was in the fifth decade with predilection for males (72%). The most common anatomical location was the posterior mandible (55%) and most cases presented a radiolucent unilocular (80%) well-defined (95%) image. Most cases were asymptomatic, but the presence of local swelling and bone cortical rupture were common.
CONCLUSIONS
Ameloblastomas mimicking periapical lesions of endodontic origin are mostly diagnosed in adult males as well-defined radiolucent unilocular lesions producing local swelling and bone cortical rupture.
Topics: Adult; Ameloblastoma; Humans; Male; Odontogenic Tumors; Periapical Periodontitis; Radiography
PubMed: 35660730
DOI: 10.4317/medoral.25338 -
Journal of Clinical and Diagnostic... May 2016The salivary glands, oral mucosa and jaws constitute a group of lesions which are heterogeneous in nature and are odontogenic, salivary or metastatic in origin. This... (Review)
Review
The salivary glands, oral mucosa and jaws constitute a group of lesions which are heterogeneous in nature and are odontogenic, salivary or metastatic in origin. This group of tumours is termed as Clear Cell Tumours. Fixation artifacts are one of the most important reasons for the cell to appear clear but clearing of cells may also result from cytoplasmic accumulation of water, presence of glycogen within the cell, intermediate filaments, immature zymogen granules, or a paucity of cellular organelles. Clear cell Odontogenic neoplasms predominantly include odontogenic carcinoma, ameloblastoma and calcifying epithelial odontogenic tumour. Clear cell tumours of salivary gland origin are almost invariably malignant in nature but they do include two benign lesions. Very frequently, surgical pathologist encounters clear cells in many malignant neoplasms, the nature and sources of which are undetermined on the basis of conventional histopathology. This review will selectively discuss the clinicopathological features of neoplasms which at times may pose a diagnostic challenge and dilemma due to clear cell changes.
PubMed: 27437379
DOI: 10.7860/JCDR/2016/14394.7867 -
Cureus Nov 2022Ameloblastomas are true benign tumors of odontogenic epithelial origin mostly seen in the mandible. After odontoma, it is the second most commonly seen odontogenic...
Ameloblastomas are true benign tumors of odontogenic epithelial origin mostly seen in the mandible. After odontoma, it is the second most commonly seen odontogenic neoplasm. Ameloblastomas comprise several clinical, radiological, and histological varieties, making them the most significant odontogenic neoplasm. Unicystic ameloblastomas (UAs) refer to those cystic lesions that show clinical, radiographic, or gross features of jaw cysts but on histologic examination, they show a typical ameloblastomatous epithelium lining the cysts' cavities, with or without luminal and/or mural tumor proliferation. UAs are a less encountered variant of ameloblastomas and are believed to be less aggressive. As this tumor shows considerable similarities with dentigerous cysts, both clinically and radiographically the biological behavior of this tumor group was reviewed.
PubMed: 36475180
DOI: 10.7759/cureus.31039 -
Journal of Maxillofacial and Oral... Sep 2019The purpose of the article is to review 45 cases of ameloblastoma treated in a tertiary care centre depending on the extent of the pathology, in terms of recurrence and...
PURPOSE
The purpose of the article is to review 45 cases of ameloblastoma treated in a tertiary care centre depending on the extent of the pathology, in terms of recurrence and morbidity of the patients.
MATERIALS AND METHOD
This was a retrospective study of patients who underwent treatment for ameloblastoma between 2009 and 2018 at Vydehi Institute of Dental Sciences, Bangalore. During the first phase of 4 years, the focus of the treatment was on avoiding any recurrence, and therefore, resection followed by reconstruction with reconstruction plates was the only modality used in ten patients. However, from 2014, it was decided to treat each patient based on the extent of the lesion and decide on either conservative management in the form of enucleation followed by peripheral ostectomy and chemical cauterisation or resection with safe margins and reconstruction with reconstruction plates.
RESULTS
The study sample consisted of 45 patients, and the ages ranged from 12 to 65 years with an average of 36. There were 30 males and 15 females. In the first phase of treatment protocol adopted, ten patients underwent resection. In the later period, 18 patients were treated by conservative methods and 16 patients were treated by radical management. There were only three recurrences over a period of 3-year follow-up in the group treated conservatively.
CONCLUSION
Considering the benign nature of the tumour and the morbidity after resection, patients, most of whom are in the younger age group, can still be subjected to conservative treatment provided they are followed up for a long period thus assuring them of a better quality of life.
PubMed: 31371882
DOI: 10.1007/s12663-019-01189-x -
Journal of Oral Biology and... 2023Metastasizing Ameloblastoma (MA) is an aggressive variant of ameloblastoma (AM) with the ability to metastasize without cytological malignant changes. Thus it aims to... (Review)
Review
BACKGROUND
Metastasizing Ameloblastoma (MA) is an aggressive variant of ameloblastoma (AM) with the ability to metastasize without cytological malignant changes. Thus it aims to comprehensively review the clinico-pathological and prognostic aspects of MA through integration of current literature.
METHODS
Electronic searches were conducted in PubMed-MEDLINE, Scopus, Web of Science and Google Scholar. Two independent reviewers screened abstracts and evaluated paper eligibility. AMSTAR2 checklist was used to assessed methodological quality of included systematic reviews (SRs).
RESULTS
From 390 initial papers, 279 underwent eligibility screening, with five systematic reviews (SRs) meeting inclusion criteria. Six hundred sixty-one MA cases were found in five SRs that were included. MA predominantly affects men, exhibits mandible preference, and occurs in individuals in their fourth or fifth decade. Benign metastatic deposits commonly manifest in lungs and lymph nodes. Distant metastasis probability rises with multiple recurrences and incomplete surgical removal. Tumor recurrence and metastasis unfavorably impact clinical outcomes. Quality of evidence assessment was absent across SRs; four SRs were critically low in methodological quality.
CONCLUSIONS
AM's metastatic potential lacks predictability. Early/multiple recurrences post-treatment may signal poor prognosis, warranting vigilant follow-up. Methodical analysis of each AM case is imperative to comprehend the metastatic-benign histology relationship.
PubMed: 38028232
DOI: 10.1016/j.jobcr.2023.10.006 -
Diagnostics (Basel, Switzerland) Dec 2022Ameloblastoma is a rare benign epithelial odontogenic neoplasm, but with great clinical implications, as despite its benignity and slow growth, most cases are locally...
Ameloblastoma is a rare benign epithelial odontogenic neoplasm, but with great clinical implications, as despite its benignity and slow growth, most cases are locally aggressive with a significant recurrence rate. Histological, cellular, or molecular analyses of its pathogenesis have confirmed the complexity of this neoplasm. We present the case of a 20-year-old patient with a suggestive clinical and radiographic diagnosis of ameloblastoma. An incisional biopsy was obtained confirming the diagnosis of conventional ameloblastoma. Left hemimandibulectomy and plate reconstruction were performed. Histopathological analysis of the surgical specimen confirmed the conventional ameloblastoma with a plexiform pattern and significant areas of cystic degeneration and amyloid-like-like deposits. Additionally, a microarray was carried out with bioinformatic analysis for the enrichment, protein interaction, and determination of eight hub genes (CRP, BCHE, APP, AKT1, AGT, ACTC1, ADAM10, and APOA2) related to their pathogenesis.
PubMed: 36553196
DOI: 10.3390/diagnostics12123190 -
International Journal of Dentistry 2022Ameloblastoma is a benign odontogenic tumor that may lead to ameloblastic carcinoma. This study aimed to determine potential signaling pathways and biological processes,...
OBJECTIVE
Ameloblastoma is a benign odontogenic tumor that may lead to ameloblastic carcinoma. This study aimed to determine potential signaling pathways and biological processes, critical genes and their regulating transcription factors (TFs), and miRNAs, as well as protein kinases involved in the etiology of primary ameloblastoma.
METHODS
The dataset GSE132472 was obtained from the GEO database, and multivariate statistical analyses were applied to identify differentially expressed genes (DEGs) in primary ameloblastoma tissues compared to the corresponding normal gingiva samples. A protein-protein interaction (PPI) map was built using the STRING database. The Cytoscape software identified significant modules and the hub genes within the PPI network. Gene Ontology annotation and signaling pathway analyses were executed by employing the DAVID and Reactome databases, respectively. Significant TFs and miRNAs acting on the hub genes were identified using the iRegulon plugin and MiRWalk 2.0 database, respectively. A protein kinase enrichment analysis was conducted using the online Kinase Enrichment Analysis 2 (KEA2) web server. The approved drugs acting on the hub genes were also found.
RESULTS
A total of 1,629 genes were differentially expressed in primary ameloblastoma ( value <0.01 and |Log2FC| > 1). , , , , , , and demonstrated high degree and betweenness centralities in the PPI network. was the most significant TF acting on the hub genes. was the protein kinase significantly enriched by the TFs. Cholesterol biosynthesis was considerably involved in primary ameloblastoma.
CONCLUSIONS
This study provides an intuition into the potential mechanisms involved in the etiology of ameloblastoma.
PubMed: 36160115
DOI: 10.1155/2022/3316313