Ossifying Fibromas Research Articles

Case report: Ossifying fibroma

Ossifying fibroma is a benign fibro-osseous tumor, also known as central fibro-osteoma, cementoossifying fibroma, cementing fibroma. This neoplasm arises from the periodontal ligament and shows slow growth and proliferation of cellular fibrous tissue with varying amounts of osseous products such as bone, cementum or a mixture of both. Ossifying fibroma is a localized, asymptomatic swelling with cortical expansion in the mandible rather than the maxilla in mandible in the premolar and molar region in the third to fourth decade of life with female predilection. Radiologically, the lesion shows a welldefined, mixed radiolucent-radiopaque internal structure. Ossifying fibromas can grow to large sizes resulting in aesthetic and functional deformities. Hence, we present a classic case of an 18-year-old male patient with ossifying fibroma on the left body of the mandible, with all clinical, radiological and histopathological features, along with a brief discussion. Keywords: ossifying fibroma, benign fibro-osseous tumor, central fibro-osteoma, cemento-ossifying fibroma, cementifying fibroma.

Psammomatoid Ossifying Fibroma Is Defined by SATB2 Rearrangement

Psammomatoid ossifying fibroma (PsOF), also known as juvenile PsOF, is a benign fibro-osseous neoplasm predominantly affecting the extragnathic bones, particularly the frontal and ethmoid bones, with a preference for adolescents and young adults. The clinical and morphologic features of PsOF may overlap with those of other fibro-osseous lesions, and additional molecular markers would help increase diagnostic accuracy. Because identical chromosomal breakpoints at bands Xq26 and 2q33 have been described in 3 cases of PsOF located in the orbita, we aimed to identify the exact genes involved in these chromosomal breakpoints and determine their frequency in PsOF using transcriptome sequencing and fluorescence in situ hybridization (FISH). We performed whole RNA transcriptome sequencing on frozen tissue in 2 PsOF index cases and identified a fusion transcript involving SATB2, located on chromosome 2q33.1, and AL513487.1, located on chromosome Xq26, in one of the cases. The fusion was validated using reverse transcription (RT)-PCR and SATB2 FISH. The fusion lead to a truncated protein product losing most of the functional domains. Subsequently, we analyzed an additional 24 juvenile PsOFs, 8 juvenile trabecular ossifying fibromas (JTOFs), and 11 cemento-ossifying fibromas (COFs) for SATB2 using FISH and found evidence of SATB2 gene rearrangements in 58% (7 of 12) of the evaluable PsOF cases but not in any of the evaluable JTOF (n = 7) and COF (n = 7) cases. A combination of SATB2 immunofluorescence and a 2-color SATB2 FISH in our index case revealed that most tumor cells harboring the rearrangement lacked SATB2 expression. Using immunohistochemistry, 65% of PsOF, 100% of JTOF, and 100% of COF cases showed moderate or strong staining for SATB2. In these cases, we observed a mosaic pattern of expression with >25% of the spindle cells in between the bone matrix, with osteoblasts and osteocytes being positive for SATB2. Interestingly, 35% (8 of 23) of PsOFs, in contrast to JTOFs and COFs, showed SATB2 expression in <5% of cells. To our knowledge, this is the first report that shows the involvement of SATB2 in the development of a neoplastic lesion. In this study, we have showed that SATB2 rearrangement is a recurrent molecular alteration that appears to be highly specific for PsOF. Our findings support that PsOF is not only morphologically and clinically but also genetically distinct from JTOF and COF.

Clinicopathologic study of 30 fibrous dysplasia of the jaws in Enugu, Nigeria

Background : Fibrous dysplasia (FD) is a genetic-based benign fibro-osseous lesion known to affect the jaws and craniofacial bones. Reports of this entity in Eastern Nigeria are scarce.Objective : To determine the prevalence and clinicopathologic features of fibrous dysplasia.Materials and Methods : A total of 643 clinicopathological records (radiographs, clinical records, and histopathological records) collected between January 2012 and December 2019 were available. The demographic and clinicopathologic records of bone and maxillofacial pathologies were examined and correlated with histological findings to determine the prevalence of FD.Results : A total of 643 orofacial lesions of bone lesions were reviewed. In these, 86 benign fibro-osseous lesions (BFOLs) were identified, of which 30 (34.9%) were FDs. The majority of the BFOLs was ossifying fibromas (OFs). The patients with FD were in the 2nd to 3rd decades of life with a mean age of 19.4 ± 7.9 years.The male to female ratio was 1: 2.8, while the mandible to maxilla ratio was 1: 4.3. There was a statistically significant prevalence of FD on the right-sided jaw, P = 0.000.Conclusion : This study observed a low prevalence of FD of the jaws, mostly observed in young patients, affecting the right side.

MDM2 Gene Amplification and Expression of MDM2 and CDK4 are Rare in Ossifying Fibroma of Craniofacial Bones.

Ossifying fibroma of the craniofacial bones is a fibro-osseous lesion characterized by varied patterns of bone formation in a fibroblastic stroma. Ossifying fibroma is a putatively benign lesion with no reports of malignant transformation or metastasis. Differentiation from other fibro-osseous lesions can be challenging necessitating synthesis of clinical, radiological and pathological findings. The molecular pathogenesis of ossifying fibroma is poorly understood but recent studies have reported MDM2 gene amplification and chromosomal copy number changes in a subset of ossifying fibromas. MDM2 amplification in ossifying fibroma, if true, presents a diagnostic problem because this genetic event, at least among craniofacial fibro-osseous lesions, was previously considered specific for low-grade osteosarcoma. In the present study, we investigated the utility of MDM2 and CDK4 immunohistochemistry, and fluorescence in situ hybridization for MDM2 gene amplification, in the diagnosis of 44 craniofacial bone ossifying fibromas. Focal MDM2 and CDK4 nuclear immunoreactivity was found in 11 and 1 ossifying fibromas, respectively, but none demonstrated MDM2 amplification by fluorescence in situ hybridization. A single tumor displayed MDM2 amplification without nuclear immunoreactivity to either MDM2 or CDK4. Our data suggest that while focal MDM2 and CDK4 nuclear expression may be detected in a minority of ossifying fibromas, this expression does not correlate with MDM2 amplification. In addition, MDM2 amplification is extremely rare in ossifying fibroma so the detection of this genetic abnormality should continue to raise concern for osteosarcoma.

Ossifying fibroma a case report with review of literature

Ossifying fibroma also known as cemento ossifying fibroma is a slow-growing benign fibroosseous lesions of the oral and maxillofacial regions. They present clinically as asymptomatic swelling of the cortical layer of jaw bones, producing a marked extraoral facial asymmetry. Fibrous dysplasia a developmental anomaly, wherein bone gets replaced by fibrous tissue, whereas ossifying fibroma, cemento-osseous dysplasia or familial gigantiform cementoma are either reactive or dysplastic change, derived from periodontal ligament, extraligamentary bone or remnants of cementum may create confusion to a clinician. Because of the presence of both bone and cementum-like products in ossifying fibromas, these lesions are designated as ossifying fibroma, cemento-ossifying fibroma, and cementifying fibroma. Fortunately ossifying fibromas are treated with surgical curettage with acceptable results. This paper is a humble attempt to present a case of Ossifying fibroma of maxilla which is otherwise common in mandible, and its esthetic outcome after the surgical treatment through Weber Fergusson's approach and a review of literature.

Case Report and Literature Review of Juvenile Ossifying Fibroma and Differentiating It from Other Fibro-Osseous Lesions of Jaws

Juvenile ossifying fibromas (JOF) are rare, locally aggressive tumours with high potentials of recurrence, most commonly affecting children and young adults. Trabecular and psammomatoid types are the two distinctive variants found.The psammomatoid is a rare variant, affecting paranasal sinuses and orbits. It'saetiology remains unknown and it is characterized by substitution of normal bone by mineralized fibrous tissue. These lesions are usually asymptomatic, well defined clinically and radiologically amenable for enucleation. It is often confused with malignant condition because of its clinical behaviour. CT-scans and preoperative biopsy play an important role. It is distinguished from other fibro-osseous lesions primarily by its age of onset, clinical presentation and aggressive behavior. It is a well-demarcated lesion that differentiates it from fibrous dysplasia. The treatment of choice is a surgical resection.In specific locations, it poses a great treatment challenge so that early diagnosis and multidisciplinary treatment are crucial to improve the prognosis and delay clinical sequelae. Long term follow-up is necessary, considering the high recurrence nature of this tumour. Reported here is a case of a massive juvenile ossifying fibroma of the maxilla in a 26 years old female. A titanium mesh was used to reconstruct the facial contour and orbital floor after surgical resection of involved maxilla, achieving a satisfactory facial appearance.

Ossifying Fibromas of the Head and Neck Region: A Clinicopathological Study of 45 Cases.

Ossifying fibromas of the head and neck region are classified as cemento-ossifying fibroma (COF) (odontogenic origin), and two types of juvenile ossifying fibromas: juvenile trabecular ossifying fibroma (JTOF), and juvenile psammomatous ossifying fibroma (JPOF). The potential for recurrence in JTOF and JPOF and the discovery of newer molecular signatures necessitates accurate histological classification. Over 12years (2005-2017), a total of 45 patients with 51 tumours were retrieved and reviewed for clinic-pathological features from the archives of a tertiary care oncology centre. Of 45 cases, COF, JTOF and JPOF comprised 13 (28.9%), 11 (24.4%) and 18 (40%) cases respectively. Three cases were unclassifiable. M: F ratio was 1:3.3, 1.1:1, 2:1 for COF, JTOF and JPOF respectively with an age range of 6-66years (mean: 24.6, median; 18.1years). The most common site for COF was mandible, for JTOF was maxilla, and for JPOF was ethmoid sinus. One case of mixed JTOF and JPOF histology was seen. Aneurysmal bone cyst-like areas were seen in 26.6% of cases, most commonly in JPOF. Follow up was available in 23 cases, and ranged from 4 to 207months. Three cases of JPOF had a recurrence and one patient with JTOF had residual disease after surgery. One case of COF demonstrated increased parathyroid hormone levels. COF, JTOF, and JPOF are clinically, radiologically and histologically distinct entities. Surgical resection is the mainstay of treatment. JPOF has a higher incidence of recurrence as compared to JTOF and COF and hence needs a more aggressive follow-up.

Parafibromin Abnormalities in Ossifying Fibroma.

Ossifying fibromas are very rare tumors that are sometimes seen as part of the hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is caused by inactivating mutations of the HRPT2/CDC73 tumor suppressor gene. CDC73 mutations have been identified in a subset of sporadic cases but aberrant expression of the encoded protein, parafibromin, has not been demonstrated in ossifying fibroma. We sought to determine if loss of parafibromin regularly contributes to the development of sporadic, nonsyndromic ossifying fibroma. We examined a series of 9 ossifying fibromas, including ossifying, cemento-ossifying, and juvenile active variants, for parafibromin protein expression by immunohistochemistry and for CDC73 sequence abnormalities by Sanger sequencing and/or targeted AmpliSeq panel sequencing. Four ossifying fibromas showed a complete absence of nuclear parafibromin expression; loss of parafibromin expression was coupled with aberrant cytoplasmic parafibromin expression in 1 case. CDC73 mutations were detected in 2 cases with aberrant parafibromin expression. These results provide novel evidence, at the level of protein expression, that loss of the parathyroid CDC73/parafibromin tumor suppressor may play a role in the pathogenesis of a subset of ossifying fibromas.

Juvenile trabecular ossifying fibroma of the maxilla: Case report of a diagnostic dilemma

Ossifying fibromas (OFs) are benign, well-demarcated lesions in the craniofacial region, particularly in the jaws, with clinical, radiographic, and histopathological similarities to other lesions, which make their diagnosis challenging. Herein, we report a case of a fibro-osseous lesion in the anterior maxilla of a 13-year-old boy, consisting of an intraosseous and an extra-osseous part, which created a diagnostic dilemma.

Juvenile Aggressive Ossifying Fibroma of Paranasal Sinuses: An Unusual Presentation in an 18-Year-Old Female

Abstract Juvenile aggressive ossifying fibroma (JAOF) is a rare variant of ossifying fibroma. Conventional ossifying fibromas are slow growing neoplasms thought to originate from osseous mesenchyme, commonly arising in the mandible. Conversely, JAOF occurs more frequently in the paranasal bones with rapid growth leading to local destruction, facial asymmetry, nasal obstruction, and proptosis. JAOF has two microscopic variants, psammomatoid and trabecular. Most JAOFs occur in patients less than 12-years-old with slight male predominance. We present an 18-year-old female with facial asymmetry for two years duration and recent onset of severe headaches. Examination revealed a bulging left maxillary bone and left upward proptosis. MRI showed an 81.2 × 44 × 39 mm, lobulated, well-defined, expansile osseous lesion with calcified matrix and soft tissue component involving the left maxillary sinus with extension into the left nasal cavity, frontal and ethmoid sinuses, and left orbit. An endoscopic biopsy procedure was performed to reveal sinonasal mucosa infiltrated by a cellular, fibro-osseous neoplasm consisting primarily of numerous, closely packed, round, uniform basophilic psammoma bodies with eosinophilic rings, interspersed by cellular, benign fibroblastic proliferations. Cystic changes and foci of necrosis were also noted. Complete excision of the JAOF is critical as recurrence and corresponding complications may develop in up to 50% of patients.

SATB2 is frequently expressed in ossifying and non-ossifying peripheral oral fibroma of the gingival region but not in reactive fibromatous lesions from other intraoral sites

Ossifying and non-ossifying peripheral oral fibromas (POF) of the gingival and alveolar mucosa are localized, cellular, small fibrous nodular lesions likely resulting from diverse external/ internal physical and chemical irritation or injuries. A central nidus of metaplastic woven bone characterizes and defines the ossifying variant. The inherent tendency of these lesions to ossify remains elusive. We herein analyze SATB2 expression as osteoblastic transcription and differentiation factor in 28 gingival POFs (10 of them ossifying) and compare them to 28 fibrous lesions from different non-gingival intraoral sites. Strong to moderate diffuse nuclear SATB2 immunoreactivity was detected in all ossifying (10/10; 100%) and in 8/18 (44%) non-ossifying gingival POFs, but in only 1/28 (3%) non-gingival oral reactive nodular fibrous lesions. This study illustrates for the first-time consistent expression of the osteoblastic marker SATB2 in ossifying and most of non-ossifying POFs of the gingival area but lack of this marker in reactive fibrous lesions from other oral cavity sites. This finding is in line with the proposed origin of gingival POFs from periodontal ligaments and may explain the frequent ossification observed in them. It is mandatory to consider this finding when assessing biopsies from SATB2-positive oral cavity neoplasms to avoid misinterpretation.

Peripheral Ossifying Fibroma in Maxillary Bone

Peripheral ossifying fibroma is a rare fibro-osseous lesion in the practice of otolaryngology. Peripheral ossifying fibroma is frequently seen in craniofacial bones. They are of two types, central and peripheral. Although these lesions can be seen at any age, they are more often seen in women in the second to fourth decade of life. Peripheral ossifying fibromas are generally less than 2 cm, painless, well-demarcated, slowly-growing lesions with pedunculated or sessile. Approximately 60% of it occurs in the anterior part of the maxillary bone. The diagnosis is made clinically, radiologically and histopathologically. Surgical excision should be performed to prevent recurrence and patients should be followed up for a long time. In this study, the clinical, radiological and surgical characteristics of a 33-year-old patient with peripheral ossifying fibroma in the maxillary sinus anterior wall were discussed in the light of the literature.

Radiographic Differential Diagnosis of Ossifying Fibromas of the Jaws. A Case Series

Radiographic Differential Diagnosis of Ossifying Fibromas of the Jaws. A Case Series

Investigating Altered Transcriptional Levels of WNT Pathway Genes and Hotspot Mutations in Ossifying Fibromas

Objectives: Ossifying fibroma (OF) is a fibro-osseous neoplasm that mainly affects the mandible, and its molecular pathogenesis is unclear; we aimed to investigate genetic mutations and expression alterations in a large gene panel.

Juvenile psammomatoid ossifying fibroma of the ethmoid sinus: A rare case report

Juvenile psammomatoid ossifying fibroma (JPOF) is a rare, aggressive benign bony tumour that has been distinguished from a larger group of ossifying fibromas (OF) based on age of occurrence, most common site of involvement, and its clinical behaviour.We reported a case of asymptomatic 14 year old boy who had incidental finding of left ethmoidal bony mass on his CT brain imaging done for post traumatic cerebral concussion. The diagnosis of juvenile psammomatoid ossifying fibroma (JPOF) was made based on radiological and histological findings.International Journal of Human and Health Sciences Vol. 02 No. 04 October’18. Page : 228-231

Retrospective Study of 383 Cases of Fibro-Osseous Lesions of the Jaws

The aims of this study were to describe the clinical and radiologic features of 383 fibro-osseous lesions (FOLs) from an oral pathology reference service in Brazil and to compare the findings with previous studies. The hypothesis of the study was that the most common type of FOL would differ from other investigations. We conducted a descriptive and retrospective study with review of the records of the clinical and biopsy services (1990 to 2015). All records of the patients included showed a definitive diagnosis of FOL. The primary outcome variable was the type of FOL, and the predictor variables were gender, age, ethnicity, location, and clinical and radiologic characteristics. Descriptive analyses and χ2 tests were performed. The P value was set at .05. From the 27,998 records available, 383 showed FOLs, with 187 (48.8%) being cemento-osseous dysplasias (CODs), 103 (26.9%) being fibrous dysplasias (FDs), and 93 (24.3%) being ossifying fibromas (OFs). The mean age of the patients was 38.5±17.5years. CODs presented a predilection for female gender (n=314, 82.0%), African descent (n=134, 71.6%), and the mandible (n=248, 64.6%). The most common radiologic feature was a mixed radiolucent-radiopaque image (n=149, 51.7%). FDs and OFs were commonly diagnosed during the first and seconddecades of life (P<.001), whereas CODs were more frequently diagnosed beyond the third decade (P<.001). Secondary osteomyelitis was more significantly observed in CODs (P<.001) than in FDs and OFs. Swelling was more frequently reported for FDs and OFs than for CODs (P<.001). CODs were the most frequently observed FOLs in this Brazilian population. Female patients, patients of African descent, and patients with mandibular localization were most commonly affected by these conditions.The most common type of FOL differed from that in similar case reports or series from various geographic locations. It is believed that the data source (clinical and/or biopsy services) can directly influence the outcome.

Fibular osteocutaneous free flap reconstruction of the mandible after resection of ossifying fibroma in a seven-year old child

Ossifying fibromas (OSF) belong to a group of benign fibro-osseous neoplasms encountered almost exclusively in the craniofacial skeleton. The clinical course is typically asymptomatic. However, discomfort in the mouth begins to develop once the neoplasm progressively extends, causing an overgrowth of bone resulting in pain and facial asym­metry. The development of craniofacial bone tumors in children is quite a rare occurrence. In international medical literature, the described cases typically involve young adolescent patients, with very few case reports of craniofacial neoplasms in children under the age of seven [1, 2]. In the current case report, we present a seven-year-old patient with a biopsy-proven ossifying fibroma. The patient underwent a resection of the neoplasm with reconstruction. One of the major issues encountered in reconstruction of the mandible using a vascularized fibular flap in children is the growth potential of the fibula in comparison to the mandible, resulting in a symmetrical facial image. The use of a fibular osteocutaneous free flap in reconstruction of mandibular deficits in children is a favourable solution. The use of this type of flap permits functional restoration and significantly improved facial cosmesis. The union of the mandible with the integrated fibula is still a topic of ongoing discussion and one must be prepared for possible further orthognathic procedures after completing the growth of the craniofacial skeleton.

Hyperparathyroidism-jaw Tumor Syndrome: An Overlooked Cause of Severe Hypercalcemia

Ossifying fibromas of the maxillofacial bones are an uncommon form of benign neoplasm usually treated by surgical excision. Up to 30% of patients with hyperparathyroidism-jaw tumor syndrome, a rare form of multiple endocrine neoplasia resulting from autosomal dominant inactivating mutation of the Hrpt2 tumor suppressor gene, initially present with ossifying fibromas. Coincident hypercalcemia because of the presence of parathyroid adenoma is common in these patients, of whom 15% may have or may develop parathyroid carcinoma. The authors present a case of severe postsurgical hypercalcemia after removal of a large maxillary ossifying fibroma in a patient with previously unrecognized hyperparathyroidism-jaw tumor AU3 syndrome.

Surgical Management of a Recurrent Peripheral Ossifying Fibroma

Introduction: Peripheral ossifying fibromas (POFs) are locally reactive gingival lesions originating from the superficial periodontal ligament that are found most often in the anterior maxilla with a relatively high recurrence rate.Case Presentation: This case report describes the surgical management of a recurrent POF and the reconstruction modality of the gingival defect by the use of a free gingival graft after excision of the lesion. Excisional biopsy was performed by debriding the underlying bone and tooth and covering the residual defect with a free gingival graft harvested from the hard palate.Conclusion: A large gingival defect attributable to a reactive lesion pathology such as a POF can be reconstructed successfully with a free gingival graft with predictable results.

Two cases of multiple ossifying fibromas in the jaws

BackgroundThe clinicopathologic characteristics of multiple ossifying fibroma (OF) are unclear due to the condition’s rarity, making diagnosis challenging. Sporadic multiple OFs must be distinguished from hyperparathyroidism-jaw tumour syndrome (HPT-JT) related OF and other fibro-osseous lesions.MethodsMultiple OF cases were identified from ossifying fibroma cases. Clinical data including age, sex, anatomic site, radiographic features, clinical impression, treatment and available follow-up data as well as serum calcium, phosphorus, and parathyroid hormone (PTH) were recorded. GNAS and HRPT2 genetic mutations were examined in the two present cases. Case reports of sporadic multiple ossifying fibroma and HPT-JT-related OF were also reviewed.ResultsThe two present cases were confirmed as sporadic multiple OF, with no genetic GNAS and HRPT2 mutations found. The incidence of sporadic multiple ossifying fibroma was 2.0% (2/102). The total 18 sporadic multiform OF cases were characterized as followed: 13 (72.2%) female; 5 (27.8%) male; mean age 28.6 years; 2/16 (11.1%) cases only in the mandible; 4/18 (22.2%) cases only in the maxilla; and 12/18 (66.7%) cases in both the maxilla and mandible. Radiographically, the lesions were radiolucent in 5/18 (27.8%) cases and mixed density in 13/18 (72.2%) cases. Along with 24 cases of HPT-JT related OF were reviewed, sixteen (66.7%) patients were diagnosed with a single lesion, and 8 patients (33.3%) were diagnosed with multiple jaw lesions.ConclusionsSporadic multiple OFs are very rare, but must be distinguished from HPT-JT related OF. We strongly recommend that patients diagnosed with multiple ossifying fibromas receive serum PTH testing and mutation screening of HRPT2.Virtual slideshttp://www.diagnosticpathology.diagnomx.eu/vs/1194507146115753