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Modern Pathology : An Official Journal... Feb 2024Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its...
Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure. We used a combination of whole-exome sequencing and RNA sequencing to assess somatic mutations, fusion transcripts, and CNAs in a cohort of 12 freshly collected COFs. No recurrent fusions have been identified among the 5 cases successfully analyzed by RNA sequencing, with in-frame fusions being detected in 2 cases (MARS1::GOLT1B and PARG::BMS1 in one case and NCLN::FZR1 and NFIC::SAMD1 in the other case) and no candidate fusions identified for the remaining 3 cases. No recurrent pathogenic mutations were detected in the 11 cases that had undergone whole-exome sequencing. A KRAS p.L19F missense variant was detected in one case, and 2 CDC73 deletions were detected in another case. The other variants were of uncertain significance and included variants in PC, ACTB, DOK6, HACE1, and COL1A2 and previously unreported variants in PTPN14, ATP5F1C, APOBEC1, HDAC5, ATF7IP, PARP2, and ACTR3B. The affected genes do not clearly converge on any signaling pathway. CNAs were detected in 5/11 cases (45%), with copy gains involving chromosome 12 occurring in 3/11 cases (27%). In conclusion, no recurrent fusions or pathogenic variants have been detected in the present COF cohort, with copy gains involving chromosome 12 occurring in 27% of cases.
Topics: Humans; Cementoma; Fibroma, Ossifying; Odontogenic Tumors; Genomics; Protein Tyrosine Phosphatases, Non-Receptor; Adaptor Proteins, Signal Transducing; Ubiquitin-Protein Ligases
PubMed: 37995913
DOI: 10.1016/j.modpat.2023.100388 -
Cureus Sep 2023Ameloblastic fibro-odontoma (AFO) is a rare, slow-growing neoplastic lesion classified as a benign, epithelial mixed odontogenic tumor with odontogenic mesenchyme. This...
Ameloblastic fibro-odontoma (AFO) is a rare, slow-growing neoplastic lesion classified as a benign, epithelial mixed odontogenic tumor with odontogenic mesenchyme. This tumor demonstrates the histological features characteristic of both ameloblastic fibromas and complex odontomas. The clinical manifestation of AFO is typically characterized by asymptomatic enlargement of the jawbones. Radiographically, it presents as a distinct radiolucent region, indicating the presence of radiopaque substances with varying degrees of irregularities in size and morphology. Standard therapeutic intervention involves enucleation. Despite its benign nature, AFO can cause significant morbidity if left untreated. Therefore, prompt diagnosis and appropriate management are essential to ensure optimal patient outcomes. The following case report details the clinical presentation and management of an 18-year-old male with an AFO lesion located in the posterior mandible. This particular case was treated with conservative measures involving surgical enucleation.
PubMed: 37908930
DOI: 10.7759/cureus.46264 -
Diagnostic Pathology Oct 2023Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as... (Review)
Review
BACKGROUND
Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS.
CASE PRESENTATION
A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
CONCLUSIONS
The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.
Topics: Female; Humans; Young Adult; Adult; Basal Cell Nevus Syndrome; Fibroma; Ovarian Neoplasms; Odontogenic Cysts
PubMed: 37907964
DOI: 10.1186/s13000-023-01406-9 -
Journal of the Egyptian National Cancer... Oct 2023Ameloblastic fibro-dentinoma is considered a rare, benign, mixed odontogenic tumor that occurs mainly in the posterior mandible in the 1st-2nd decade of life. Although... (Review)
Review
BACKGROUND
Ameloblastic fibro-dentinoma is considered a rare, benign, mixed odontogenic tumor that occurs mainly in the posterior mandible in the 1st-2nd decade of life. Although the clinical behavior of Ameloblastic fibro-dentinoma is similar to that of ameloblastic fibroma, there is a debate about whether Ameloblastic fibro-dentinoma is a developing hamartomatous odontoma or a separate neoplastic odontogenic tumor like ameloblastic fibroma. However, it is important to understand the histopathogenesis of this rare tumor.
CASE PRESENTATION
A case report presenting an 11-year-old male child with a swelling in the posterior mandible. Radiographic examination revealed a multilocular lesion with mixed radiodensity related to the impacted lower left second premolar tooth. Incisional biopsy was done, and microscopic examination revealed cords and nests of odontogenic follicles lined by ameloblast-like cells and central stellate reticulum-like cells in the primitive ecto-mesenchymal stroma with areas of dentinoid material and osteodentin. The diagnosis was ameloblastic fibro-dentinoma. Surgical excision of the lesion was done, and the patient was followed up for 1 year without evidence of recurrence.
CONCLUSION
Reporting such a rare entity clarifies the debate about its nature and the importance of early diagnosis of lesions that are associated with unerupted teeth showing how it is effective in early management and prognosis.
Topics: Male; Child; Humans; Mandibular Neoplasms; Ameloblasts; Odontogenic Tumors; Odontoma; Fibroma
PubMed: 37899408
DOI: 10.1186/s43046-023-00193-0 -
Oral Surgery, Oral Medicine, Oral... Jan 2024Differential diagnosis between the non-calcifying variant of calcifying epithelial odontogenic tumor (NCLC-CEOT) and amyloid-rich central odontogenic fibroma (AR-COdF)...
OBJECTIVE
Differential diagnosis between the non-calcifying variant of calcifying epithelial odontogenic tumor (NCLC-CEOT) and amyloid-rich central odontogenic fibroma (AR-COdF) has become a debate, particularly regarding the frequency of CD1a positivity in both entities. This has led to the growing consensus that CD1a-positive staining in AR-NC lesions confirms the diagnosis of AR-COdF. Here, we assess the validity of this consensus.
STUDY DESIGN
We collected the data of a case series of histopathologically distinct CEOTs, NCLC-CEOTs, and COdFs and stained them for CD1a and amyloid. Of the 9 CEOTs and NCLC-CEOTs, we diagnosed 4 as classic, 3 as associated with a dentigerous cyst, and 2 as combined CEOT/adenomatoid odontogenic tumors. Of the 9 COdFs, we diagnosed 3 as epithelial poor, 3 as epithelial rich (lacking amyloid), 2 as hyalinized with amyloid, and 1 as hyalinized without amyloid and assessed the staining results.
RESULTS
Of the 9 CEOTs and NCLC-CEOTs, 7 stained positively for CD1a, 5 diffusely and 2 focally. Notably, 2 classic NCLC-CEOTs stained strongly CD1a positive. All 3 of the epithelial-poor COdFs were predictably CD1a negative. Of the 6 remaining COdFs, 2 were CD1a positive, 1 hyalinized-with-amyloid COdF diffusely and 1 epithelial-rich-without amyloid focally.
CONCLUSIONS
CD1a positivity, which occurs in classic CEOT and NCLC-CEOT, does not help distinguish between NCLC-CEOT and AR-COdF and is inconsistent in all AR-COdFs. The diagnosis of CEOT and AR-COdF should be guided by appropriate histopathologic criteria irrespective of CD1a staining or the presence of amyloid or calcifications.
Topics: Humans; Amyloid; Fibroma; Odontogenic Tumors; Skin Neoplasms
PubMed: 37891119
DOI: 10.1016/j.oooo.2023.08.013 -
Medicina Oral, Patologia Oral Y Cirugia... Nov 2023Odontogenic tumours are infrequent lesions. Studies on the frequency of odontogenic tumours from Latin America are scarce. This work aimed to determine the relative... (Review)
Review
BACKGROUND
Odontogenic tumours are infrequent lesions. Studies on the frequency of odontogenic tumours from Latin America are scarce. This work aimed to determine the relative frequency of odontogenic tumours in a Chilean population using the 2022 World Health Organization classification.
MATERIAL AND METHODS
This is a case series retrospective study. We reviewed 35,530 samples from 1975 to 2022 from the Oral Pathology Referral Institute and the Pathological Anatomy Service, Faculty of Dentistry, University of Chile. We utilized the 2022 World Health Organization classification for histological typification.
RESULTS
According to 2022 World Health Organization classification, 544 odontogenic tumours were confirmed. The most frequent odontogenic tumours were: odontoma (n=241; 44.3%), ameloblastoma (n=109; 20.0%) and cemento-ossifying fibroma (n=71; 13.1%). Benign odontogenic tumours corresponded to 538 cases (98.9%) and malignant tumours were only six cases (1.1%).
CONCLUSIONS
In our population, odontoma was the most frequent odontogenic tumour followed by ameloblastoma and cemento-ossifying fibroma. Malignant odontogenic tumours were very rare. The results of this study are similar to reports from America, but there are some differences concerning the data from Africa and Asia.
Topics: Humans; Ameloblastoma; Odontoma; Retrospective Studies; Cementoma; Chile; Odontogenic Tumors; World Health Organization
PubMed: 37823289
DOI: 10.4317/medoral.26008 -
National Journal of Maxillofacial... 2023Ossifying fibroma (OF) in craniofacial is a rare disease, benign, locally aggressive fibro-osseous tumor. The 2017 World Health Organization classifications divided OF...
Ossifying fibroma (OF) in craniofacial is a rare disease, benign, locally aggressive fibro-osseous tumor. The 2017 World Health Organization classifications divided OF into two types: OF of odontogenic origin and juvenile ossifying fibroma (JOF). Determining the right surgical treatment to reduce the postoperative recurrence rate is incredibly challenging. The author reports two cases of paranasal sinuses with disease onset progressed from pre-pubertal age. The first case is an example of a recurrent case after undergoing conservative surgery, and the second is a new one. All cases underwent radical surgery with subtotal maxillectomy and reconstructive surgery in one stage. After observing all patients until one year, there was no sign of recurrence through clinical and endoscopic examination. There are two types of surgery that compare in this case report: conservative surgery and radical surgery. Conservative surgical procedures include curettage, enucleation, or peripheral osteotomies. Several studies have shown high recurrence levels in OF patients when curettage or enucleation is performed; residue caused by incomplete excision is the most common reason that is easily caused by conservative surgery. Radical surgery such as open maxillectomy is a promising approach for degrading the level of recurrence. JOF, especially trabecular juvenile ossifying fibroma, shows a high recurrence percentage comparing other types. The first-choice management for treating OF was the surgical approach. Types of surgery depend on the disease's aggressiveness and morbidity. Radical surgery was proven better at decreasing recurrence level than conservative surgery.
PubMed: 37661994
DOI: 10.4103/njms.njms_170_22 -
Current Medical Imaging Sep 2023The jaws can be affected by several lesions that manifest in the oral cavity, but little is known about non-odontogenic benign and malignant lesions and their...
BACKGROUND
The jaws can be affected by several lesions that manifest in the oral cavity, but little is known about non-odontogenic benign and malignant lesions and their radiological findings.
INTRODUCTION
Our aim was to discuss the imaging findings of non-odontogenic jaw lesions to help the surgeon in the diagnosis and formulating a differential diagnosis for this vast spectrum of jaw lesions with overlapping clinical and imaging appearances.
METHODS
CT and MR images of the mandible, maxillofacial region, and neck were retrieved from the archive of the Radiology Department of Pamukkale University for the duration between 2012-2023 and assessed.
RESULTS
A total of 8125 CT and MR images were retrospectively analyzed. The mean age of the patients was 39.5 years in females and 43.2 in males, with a range varying from 15 to 72 years. Histopathologically approved benign and malignant non-odontogenic lesions were detected in only 19 patients out of 8125 images (0.23%). Osteomyelitis and abscess were the most common (n=3; 0.03%), followed by two cases (n=2; 0.02%) of each fibrous dysplasia, hemangioma, osteosarcoma, squamous cell carcinoma, and multiple myeloma, and one case (n=1; 0.01%) of each ossifying fibroma, osteoma, lymphoma, metastasis, and solitary bone cyst.
CONCLUSION
Although non-odontogenic benign and malignant lesions of the jaw are rare, awareness of the radiological features of these lesions plays an important role in their diagnosis and management.
PubMed: 37654125
DOI: 10.2174/1573405620666230901102904 -
Journal of Stomatology, Oral and... Feb 2024Cemento-ossifying fibroma is a rare benign odontogenic tumour of the tooth-bearing jaws. Its concomitant occurrence with osteosarcoma, a malignant maxillofacial bone...
Cemento-ossifying fibroma is a rare benign odontogenic tumour of the tooth-bearing jaws. Its concomitant occurrence with osteosarcoma, a malignant maxillofacial bone tumour, has never been described before. We present an uncommon case of a 43-year-old woman in whom a cemento-ossifying fibroma in the right maxilla was treated by resection and reconstruction using a deep circumflex iliac artery flap. During surgical prosthetic rehabilitation one-year post-operative, an osteosarcoma extending from the contralateral maxilla was coincidentally discovered in the deep circumflex iliac artery flap. The aim of this case report is to raise awareness on the extremely rare but possible simultaneous and independent occurrence of a cemento-ossifying fibroma and an osteosarcoma.
Topics: Female; Humans; Adult; Cementoma; Maxilla; Fibroma, Ossifying; Osteosarcoma; Bone Neoplasms
PubMed: 37558180
DOI: 10.1016/j.jormas.2023.101591 -
Annals of Medicine and Surgery (2012) Aug 2023A significant percentage of lesions of endodontic origin require surgical management due to the possible diagnosis of odontogenic cysts and tumors in the maxilla and...
UNLABELLED
A significant percentage of lesions of endodontic origin require surgical management due to the possible diagnosis of odontogenic cysts and tumors in the maxilla and mandible. Ossifying fibroma is a benign fibro-osseous lesion that typically presents as a painless, slow-growing, and expansile lesion that appears as a well-demarcated lesion with a variable degree of internal calcification on radiography. Treatment results in a large osseous defect, utilization of a graft to fill the void accelerates healing and prevents complications that may result from failure to fill by the host response.
CASE PRESENTATION
Following endodontic surgery placement of osseous graft material via Guided Tissue Regeneration to fill the defect aids to accelerate fill of the defect on a healthy 26-year-old female patient. A case discussing the one-step treatment of an ossifying fibroma of the anterior part of the mandible following endodontic microsurgery with associated retrograde fill of the apex, then site grating with biphasic calcium sulfate (Bond Apatite) used in regeneration of the osseous defect related to the lesion and resulting surgery.
CLINICAL DISCUSSION
Histologically, the ossifying fibroma is dominated by connective tissue containing cell rich areas with a few fragments of fibrosis. Moreover, in the connective tissue numerous small fragments of spongy and compact bone with areas of partial necrosis present and a significant number of inflammatory cells are observed. Surgical removal of the cyst with thorough curettage of the osseous walls and grafting of the defect provides predictable healing and the desired clinical results sought. Utilization of the biphasic calcium sulfate graft material allows the elimination of the need to overlay the area with a membrane before the flap due to its hard set and the prevention of soft tissue ingrowth into the graft material during the healing phase. Additionally, the hard set of the material allows tenting of the area to maintain the desired volume and ridge contour. Conversion of the graft material depending on the volume placed to host bone occurs over a 3-6 month period.
CONCLUSION
The case report presented, as well as the authors experience mimics the literature on biphasic calcium sulfate in its use as an osseous graft material and is an effective method for the repair of osseous defects that result from the removal of tumors and cysts of the maxilla and mandible. Treatment of an ossifying fibroma is an ideal application of the use of this biphasic calcium sulfate material allowing tenting of the surgical site over the defect created after cyst removal without the need for resorbable collagen membranes. This simplifies its use and decreases material costs that may hamper patient acceptance of treatment without a decrease in expected clinical results.
PubMed: 37554914
DOI: 10.1097/MS9.0000000000001068