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Modern Pathology : An Official Journal... Jun 2024Calcifying odontogenic cyst (COC), once called calcifying cystic odontogenic tumor, is classified under the category of odontogenic cysts. However, the proliferative...
Calcifying Odontogenic Cyst Demonstrates Recurrent WNT Pathway Mutations and So-Called Adenoid Ameloblastoma-Like Histology: Evidence Supporting Its Classification as a Neoplasm.
Calcifying odontogenic cyst (COC), once called calcifying cystic odontogenic tumor, is classified under the category of odontogenic cysts. However, the proliferative capacity of the lesional epithelium and consistent nuclear β-catenin expression raise questions about its current classification. This study aimed to determine whether COC would be better classified as a neoplasm in the histologic and molecular context. Eleven odontogenic lesions diagnosed as COC or calcifying cystic odontogenic tumor were included in this study. The growth patterns of the lesional epithelium were analyzed histologically in all cases. β-catenin immunohistochemistry and molecular profiling using Sanger sequencing and whole-exome sequencing were performed in 10 cases. Of the 11 cases studied, histologic features reminiscent of so-called adenoid ameloblastoma were observed in 72.7% (8/11), and small islands of clear cells extended into the wall in 36.4% (4/11). Intraluminal and/or mural epithelial proliferation was found in 72.7% of the cases (8/11). Nuclear β-catenin expression was observed focally in all 10 cases studied, mainly highlighting epithelial cells forming morules and adjacent to dentinoid. CTNNB1 hotspot mutations were detected in 60.0% of the cases (6/10). All the remaining cases had frameshift mutations in tumor-suppressor genes involved in the WNT pathway, including APC and NEDD4L. Recurrent WNT pathway mutations leading to nuclear translocation of β-catenin and distinct epithelial growth patterns found in COC are the neoplastic features shared by its solid counterpart, dentinogenic ghost cell tumor, supporting its classification as a tumor rather than a cyst.
Topics: Humans; Female; Male; Odontogenic Cyst, Calcifying; Adult; Wnt Signaling Pathway; Mutation; Middle Aged; beta Catenin; Ameloblastoma; Adolescent; Young Adult; Jaw Neoplasms; Biomarkers, Tumor; Odontogenic Tumors; Aged; Child
PubMed: 38574817
DOI: 10.1016/j.modpat.2024.100484 -
Journal of Surgical Case Reports Apr 2024Ossifying fibroma (OF) is a slow-growing benign fibro-osseous neoplasm. It is mostly odontogenic in origin, and it arises in the jaws, particularly the mandible. OF is...
Ossifying fibroma (OF) is a slow-growing benign fibro-osseous neoplasm. It is mostly odontogenic in origin, and it arises in the jaws, particularly the mandible. OF is characterized by the production of bone and cementum-like calcifications in a fibrous stroma. OF reports of the bone of the maxilla are uncommon. Diagnosing OF can be challenging due to the considerable overlap of clinico-pathological characteristics with those of other neoplasms. Herein, the authors describe a case report OF in a 26-year-old male who presented with a huge fibro-osseous tumor of the maxilla. Histopathology established the diagnosis of maxillary OF. The tumor was surgically removed via a Weber-erguson approach with satisfactory functional and cosmetic results. No recurrence has been found after one year of follow-up. Clinical, radiological, and pathological characteristics, as well as surgical treatment approaches, are further discussed. This is one of a few documented cases of maxillary OF in our setting.
PubMed: 38572287
DOI: 10.1093/jscr/rjae198 -
International Journal of Clinical... Jan 2024The objective of this case report is to offer insight into an expansive compound-complex odontoma located in the anterior maxilla of a 15-year-old male. The focus is...
AIM AND OBJECTIVE
The objective of this case report is to offer insight into an expansive compound-complex odontoma located in the anterior maxilla of a 15-year-old male. The focus is placed on the importance of early detection and the progressive comprehension of odontomas.
BACKGROUND
Odontomas are common odontogenic lesions that are frequently discovered during examinations for delayed tooth eruption. There are two distinct classifications for odontomas-compound odontomas and complex odontomas. With its own each set of characteristics. A timely diagnosis is critical for avoiding complications.
CASE DESCRIPTION
A male individual aged 15 years exhibited an expansive compound-complex odontoma located in the anterior maxilla. The clinical examination showed delayed tooth eruption and asymptomatic swelling. The radiographic images showed a radiopaque mass with tooth-like structures and radiolucent borders affecting the surrounding dentition. A surgical excision procedure was conducted, followed by a subsequent histopathological examination confirming the diagnosis of compound-complex odontoma. The patient continued orthodontic treatment after a 1-year follow-up without recurrence.
CLINICAL SIGNIFICANCE
This case emphasizes the importance of regular dental exams in detecting odontomas early. This observation also highlights the growing understanding of odontomas as hamartomatous odontogenic malformations and the challenges of diagnosing them clinically. Additional molecular investigations are required to facilitate the classification and elucidation of genetic factors.
HOW TO CITE THIS ARTICLE
Alhazmi YA. The Enigma Unveiled: Expansile Compound-complex Odontoma in the Anterior Maxilla of a Teenager. Int J Clin Pediatr Dent 2024;17(1):82-85.
PubMed: 38559850
DOI: 10.5005/jp-journals-10005-2735 -
Journal of Stomatology, Oral and... Jun 2024Oral and maxillofacial tumors pose a significant clinical challenge due to their tendency to recur, despite advancements in surgical removal techniques. The jaw's... (Review)
Review
Oral and maxillofacial tumors pose a significant clinical challenge due to their tendency to recur, despite advancements in surgical removal techniques. The jaw's intricate structure further complicates treatments and affects patient quality of life. Consequently, emphasis has shifted towards pharmacological interventions, to potentially reduce invasive surgical procedures. One promising approach targets BRAF mutations, specifically the common V600E mutation. BRAF, a critical protein kinase, regulates cell growth and differentiation via the RAS-RAF-MEK-ERK-MAP kinase pathway. A specific nucleotide change at position 1799, swapping Thymine (T) for Adenine (A), results in the V600E mutation, causing unchecked cell growth. This mutation is common in certain oral and maxillofacial tumors like ameloblastoma. A recent neoadjuvant therapy targeting BRAF, involving the use of dabrafenib and trametinib, has showcased a promising, safe, and effective strategy for organ preservation in the treatment of mandibular ameloblastoma. This convergence of molecular insights and targeted therapies holds the key to managing BRAF-mutated oral and maxillofacial tumors effectively, promising improved patient outcomes.
Topics: Humans; Proto-Oncogene Proteins B-raf; Mutation; Ameloblastoma; Imidazoles; Oximes; Pyridones; Pyrimidinones; Antineoplastic Agents; Mouth Neoplasms; Neoadjuvant Therapy; Molecular Targeted Therapy
PubMed: 38556167
DOI: 10.1016/j.jormas.2024.101846 -
Journal of Cancer Research and... Jan 2024Fibro-osseous lesions (FOLs) of the craniomaxillofacial region comprise a group of developmental, dysplastic, and neoplastic alterations. FOLs include ossifying fibromas...
Fibro-osseous lesions (FOLs) of the craniomaxillofacial region comprise a group of developmental, dysplastic, and neoplastic alterations. FOLs include ossifying fibromas (OF), cemento-ossifying fibroma (COF), familial gigantiform cementoma (FGC), fibrous dysplasia (FD), and cemento-osseous dysplasia (COD). Evidence suggests that some FOL, especially FD and OF may have a risk of spontaneous malignant transformation. This report documents a rare case of malignant transformation of ossifying fibromas of the jaw and the probable cause for same. Although it is rare, the clinician should have a complete follow up to observe such changes among the patients having FOLs.
Topics: Humans; Fibroma, Ossifying; Cementoma; Jaw Neoplasms; Odontogenic Tumors; Fibrous Dysplasia of Bone
PubMed: 38554359
DOI: 10.4103/jcrt.jcrt_1757_22 -
Oral Surgery, Oral Medicine, Oral... Jul 2024Central odontogenic fibromas (COF) are rare, benign tumors derived from dental mesenchymal tissue that may occur in the maxilla or mandible. This report describes...
OBJECTIVE
Central odontogenic fibromas (COF) are rare, benign tumors derived from dental mesenchymal tissue that may occur in the maxilla or mandible. This report describes primary and recurrent COF in the mandible of a patient with nevoid basal cell carcinoma syndrome (NBCCS).
STUDY DESIGN
A 36-year-old African American male presented with a COF and its recurrence 17 months later. Tissue pieces were obtained from both occurrences with IRB-approved signed consent. Collected tissue pieces were dissected; one portion was formalin-fixed and paraffin-embedded, and the other was cultured for the isolation of cell populations from the primary (COdF-1) and recurrent (COdF-1a) tumors. Quantification real-time polymerase chain reaction (qRT-PCR), immunohistochemistry, and DNA sequencing were used for gene and protein analysis of the primary tumor and cell populations.
RESULTS
Histopathologic analysis of the tumor showed sparse odontogenic epithelial cords in fibrous connective tissue, and qRT-PCR analysis of tumor and cell populations (COdF-1 and COdF-1a) detected VIM, CK14, CD34, CD99 and ALPL mRNA expression. Protein expression was confirmed by immunohistochemistry. CD34 expression in primary tissues was higher than in tumor cells due to tumor vascularization. DNA sequencing indicated the patient had PTCH1 mutations.
CONCLUSIONS
Histopathology, mRNA, and protein expression indicate the rare occurrence of COF in a patient with mutated PTCH1 gene and NBCCS.
Topics: Humans; Male; Basal Cell Nevus Syndrome; Odontogenic Tumors; Adult; Neoplasm Recurrence, Local; Fibroma; Immunohistochemistry; Mandibular Neoplasms; Real-Time Polymerase Chain Reaction; In Vitro Techniques
PubMed: 38553309
DOI: 10.1016/j.oooo.2024.02.015 -
Journal of Dentistry (Shiraz, Iran) Mar 2024Periapical cyst and granuloma are inflammatory endodontic lesions. Periapical granuloma usually heals spontaneously after endodontic treatment; however, periapical cyst...
STATEMENT OF THE PROBLEM
Periapical cyst and granuloma are inflammatory endodontic lesions. Periapical granuloma usually heals spontaneously after endodontic treatment; however, periapical cyst mostly needs to be removed via surgical approaches. Although some clinicians believe that microscopic examination of periapical lesions is unnecessary, it is proved that some of them has non-endodontic nature that need critical consideration.
PURPOSE
The purpose of this study was to assess the disagreement between clinico-radiographic and microscopic diagnosis of periapical cysts and granulomas in a major center of oral pathology service in Iran.
MATERIALS AND METHOD
In this retrospective, descriptive cross-sectional study, the archives of the oral and maxillofacial pathology department of Shahid Beheshti University of Medical Sciences served as the source of the material during an 18-year-period for this retrospective, descriptive cross-sectional study. The reports of all patients whose initial clinical diagnosis was a periapical cyst/granuloma were extracted.
RESULTS
In the present study, 474 cases were diagnosed with a periapical cyst/granuloma clinico-radiographically, of which 61 cases (12.86%) received a microscopic diagnosis of a non-endodontic pathology. The most frequent lesion was odontogenic keratocyst (n= 12, 19.67%) followed by infected odontogenic cyst (n= 12, 19.67%). About 21.31% of diagnoses were non-cystic lesions and 4.9% were malignancies. The most odontogenic tumors that were diagnosed as periapical cyst/granuloma in clinico-radiography were the ameloblastoma variants (n= 4, 6.55%).
CONCLUSION
A wide variety of microscopic diagnoses, including aggressive lesions such as ameloblastoma, as well as other malignant lesions was noted in this study. These misdiagnoses can lead to an inappropriate treatment plan. It is important to microscopically examine all lesions removed from the jaw.
PubMed: 38544772
DOI: 10.30476/dentjods.2023.96819.1967 -
Oral Radiology Jul 2024The recent impact of artificial intelligence in diagnostic services has been enormous. Machine learning tools offer an innovative alternative to diagnose cysts and... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The recent impact of artificial intelligence in diagnostic services has been enormous. Machine learning tools offer an innovative alternative to diagnose cysts and tumors radiographically that pose certain challenges due to the near similar presentation, anatomical variations, and superimposition. It is crucial that the performance of these models is evaluated for their clinical applicability in diagnosing cysts and tumors.
METHODS
A comprehensive literature search was carried out on eminent databases for published studies between January 2015 and December 2022. Studies utilizing machine learning models in the diagnosis of odontogenic cysts or tumors using Orthopantomograms (OPG) or Cone Beam Computed Tomographic images (CBCT) were included. QUADAS-2 tool was used for the assessment of the risk of bias and applicability concerns. Meta-analysis was performed for studies reporting sufficient performance metrics, separately for OPG and CBCT.
RESULTS
16 studies were included for qualitative synthesis including a total of 10,872 odontogenic cysts and tumors. The sensitivity and specificity of machine learning in diagnosing cysts and tumors through OPG were 0.83 (95% CI 0.81-0.85) and 0.82 (95% CI 0.81-0.83) respectively. Studies utilizing CBCT noted a sensitivity of 0.88 (95% CI 0.87-0.88) and specificity of 0.88 (95% CI 0.87-0.89). Highest classification accuracy was 100%, noted for Support Vector Machine classifier.
CONCLUSION
The results from the present review favoured machine learning models to be used as a clinical adjunct in the radiographic diagnosis of odontogenic cysts and tumors, provided they undergo robust training with a huge dataset. However, the arduous process, investment, and certain ethical concerns associated with the total dependence on technology must be taken into account. Standardized reporting of outcomes for diagnostic studies utilizing machine learning methods is recommended to ensure homogeneity in assessment criteria, facilitate comparison between different studies, and promote transparency in research findings.
Topics: Humans; Machine Learning; Odontogenic Cysts; Odontogenic Tumors; Sensitivity and Specificity; Cone-Beam Computed Tomography
PubMed: 38530559
DOI: 10.1007/s11282-024-00745-7 -
Head and Neck Pathology Mar 2024Odontogenic tumors represent a collection of entities ranging from hamartomas to destructive benign and malignant neoplasms. Occasionally, pathologists encounter gnathic...
Odontogenic tumors represent a collection of entities ranging from hamartomas to destructive benign and malignant neoplasms. Occasionally, pathologists encounter gnathic lesions which clearly exhibit an odontogenic origin but do not fit within the confines of established diagnoses. Here, we describe two such odontogenic tumors, both affecting 3-year-old males. Each case presented as a destructive, radiolucent mandibular lesion composed of mesenchymal cells, some with unique multi-lobed nuclei, frequently arranged in a reticular pattern and supported by a myxoid stroma with focal laminations. Production of odontogenic hard tissues was also seen. Because of their unique microscopic features, both cases were investigated by next-generation sequencing and found to harbor the same STRN::ALK oncogene fusion. To our knowledge, these cases represent the first report of an odontogenic tumor with a STRN::ALK gene rearrangement. We propose the possibility that this neoplasm could be separate from other known odontogenic tumors. Both patients were treated with surgical resection and reconstruction. The prognosis of patients with this entity is currently uncertain but shall become more apparent over time as more cases are identified and followed.
Topics: Male; Humans; Child, Preschool; Odontogenic Tumors; Oncogene Fusion; Receptor Protein-Tyrosine Kinases; Calmodulin-Binding Proteins; Membrane Proteins; Nerve Tissue Proteins
PubMed: 38526831
DOI: 10.1007/s12105-024-01633-6 -
Head and Neck Pathology Mar 2024To review tumors identified as "clear cell sarcoma" in order to determine similarities to the rare EWS fusion positive jaw and salivary gland tumors clear cell... (Review)
Review
OBJECTIVE
To review tumors identified as "clear cell sarcoma" in order to determine similarities to the rare EWS fusion positive jaw and salivary gland tumors clear cell odontogenic carcinoma (CCOC) and clear cell carcinoma of the salivary gland (CCC).
METHODS
PubMed was used to collect all reports of clear cell sarcoma (CCS). Search parameters were "clear cell sarcoma" and "CCS." References in the publications were screened and cross-referenced. Data extracted included demographic characteristics, presenting signs and symptoms, radiographic findings, histological and immunohistochemical features and known molecular/genetic aberrations.
RESULTS
Clear cell sarcoma has several similarities to CCOC and CCC. All three tumor types have similar histologic appearances including the presence of clear cells, as well as similar genetic profiles in that all harbor an EWSR1-CREB family fusions. Additionally, these tumors appear in soft tissue as well as bone, and can have a prolonged clinical course. CCS can appear anywhere in the body, including the head and neck region. All three tumors appear to have a predilection to women, although CCS may have a slight younger age of onset as compared to CCOC and CCC (3rd vs 5th decade of life, respectively).
CONCLUSION
Gaining a better understanding of the similarities and differences between these three tumors may lead to a better understanding of each one.
Topics: Humans; Female; Sarcoma, Clear Cell; RNA-Binding Protein EWS; Odontogenic Tumors; Salivary Gland Neoplasms; Carcinoma; Oncogene Proteins, Fusion
PubMed: 38526767
DOI: 10.1007/s12105-024-01625-6