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Head and Neck Pathology Dec 2022
Topics: Humans; Fibroma, Ossifying; Gingival Neoplasms; Odontogenic Tumors; Calcinosis
PubMed: 35524033
DOI: 10.1007/s12105-022-01460-7 -
Head and Neck Pathology Dec 2022Ossifying 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...
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.
Topics: Humans; In Situ Hybridization, Fluorescence; Gene Amplification; Proto-Oncogene Proteins c-mdm2; Cyclin-Dependent Kinase 4
PubMed: 35546651
DOI: 10.1007/s12105-022-01454-5 -
Modern Pathology : An Official Journal... Jan 2023Psammomatoid ossifying fibroma (PsOF), also known as juvenile PsOF, is a benign fibro-osseous neoplasm predominantly affecting the extragnathic bones, particularly the...
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.
Topics: Humans; Fibroma, Ossifying; In Situ Hybridization, Fluorescence; Bone Neoplasms; Immunohistochemistry; Gene Rearrangement; Transcription Factors; Matrix Attachment Region Binding Proteins
PubMed: 36788065
DOI: 10.1016/j.modpat.2022.100013 -
Annals of Maxillofacial Surgery 2020The aggressive ossifying fibroma is an uncommon benign fibro-osseous lesion which has been described in the literature under a variety of terms. This tumor is...
The aggressive ossifying fibroma is an uncommon benign fibro-osseous lesion which has been described in the literature under a variety of terms. This tumor is distinguished from standard ossifying fibroma based on its more clinically aggressive biological behavior, occurrence in children and young adults, and tendency to occur in different anatomic sites. We report a case of a 45-year-old female who presented with a unilateral swelling of the right middle face for 5 months. Clinical examination showed a mass extended over the right maxilla. Orthopantomogram and computed tomography scan were performed. Biopsy suggests a fibro-osseous lesion. The complete surgical excision of tumor was performed under local anesthesia. The histopathological examination revealed the diagnosis of an aggressive ossifying fibroma-trabeculae type. No recurrence was noted. Because of its aggressive and compressive nature, aggressive ossifying fibroma requires an early complete surgical excision. A long-term clinical and radiological surveillance is necessary to prevent recurrence.
PubMed: 32855955
DOI: 10.4103/ams.ams_121_18 -
Head and Neck Pathology Mar 2020Gnathic fibro-osseous lesions are a diverse group of disease processes which share overlapping microscopic features characterized by fibroblastic stroma with variable... (Review)
Review
Gnathic fibro-osseous lesions are a diverse group of disease processes which share overlapping microscopic features characterized by fibroblastic stroma with variable cellularity and a range of bone forming pathological processes leading to woven, sclerotic and cementum-like structures. Some of the lesions are unique to craniofacial location and a combination of clinical, radiological and pathological correlation is often necessary for diagnostic accuracy. Gnathic osteosarcomas are rare tumors with differences in age distribution and behavior as compared to osteosarcoma of long bones. This review will discuss the clinicopathological and radiological features of gnathic fibro-osseous lesions and osteosarcoma with updates on current genetics and molecular pathogenesis.
Topics: Cementoma; Fibroma, Ossifying; Fibrous Dysplasia of Bone; Head and Neck Neoplasms; Humans; Osteomyelitis; Osteosarcoma
PubMed: 31950477
DOI: 10.1007/s12105-019-01094-2 -
Heliyon Jul 2021Cemento-ossifying fibroma is a benign fibro-osseous lesion of the jaws. Cemento-ossifying fibroma develops from the periodontal ligament and contains multipotent stem...
Cemento-ossifying fibroma is a benign fibro-osseous lesion of the jaws. Cemento-ossifying fibroma develops from the periodontal ligament and contains multipotent stem cells that can form cementum, lamellar bone, and/or fibrous tissue. These tumours occur in the third and fourth decades of life with higher predilection of occurrence in the female population and seldom attain a large size. We report a rare case of cemento-ossifying fibroma in a 45-year-old man involving the body of the mandible and extending into the para-pharyngeal and infratemporal region. This article describes the clinical, radiographic, and histological features of a large cemento-ossifying fibroma of the mandible.
PubMed: 34337187
DOI: 10.1016/j.heliyon.2021.e07594 -
BMC Musculoskeletal Disorders Aug 2021A phosphaturic mesenchymal tumor (PMT) is classified into four histological subtypes: mixed connective tissue, osteoblast-like, non-ossifying fibroma-like, and ossifying... (Review)
Review
BACKGROUND
A phosphaturic mesenchymal tumor (PMT) is classified into four histological subtypes: mixed connective tissue, osteoblast-like, non-ossifying fibroma-like, and ossifying fibroma-like. The ossifying fibroma-like subtype being extremely rare. Most PMTs are benign, with a minimal number becoming malignant after recurrence. In this study, we report a case of recurrence and malignant transformation of PMT-ossifying fibroma-like subtype in the left hip bone.
CASE PRESENTATION
Here, we report the clinical manifestations, histology, pathological features, and treatment of a 57-year-old Chinese woman with a recurrent and malignant ossifying fibroma-like subtype PMT of the left iliac bone. The tumor was first discovered 3 years ago when the patient underwent surgery to remove the tumor. Precisely 2 years and 6 months after the operation, the pain in the left hip reappeared. After 6 months, the patient went to our hospital for treatment. After the tumor resection, the postoperative symptoms improved significantly, and the serum alkaline phosphatase level returned to normal. Based on clinical manifestations, evaluation of serum biochemical indicators, X-ray examination, computerized tomography scan of the pelvis, and histopathological examination of the two operations, the patient was finally diagnosed with a recurring and malignant transformation of the left iliac bone phosphaturic mesenchymal tumor-ossifying fibroma-like subtype. No tumor recurrence was found during the follow-up 15 months after the operation.
CONCLUSIONS
This case increases the awareness of a rare malignant subtype of PMT and provides a valuable reference for the diagnosis of this disease.
Topics: Female; Fibroma; Fibroma, Ossifying; Humans; Mesenchymoma; Middle Aged; Neoplasm Recurrence, Local; Tomography, X-Ray Computed
PubMed: 34376178
DOI: 10.1186/s12891-021-04558-1 -
Cureus Jan 2022The aim of the present article is to present the clinical case of a large peripheral ossifying fibroma that evolved from a previously diagnosed pyogenic granuloma in a...
The aim of the present article is to present the clinical case of a large peripheral ossifying fibroma that evolved from a previously diagnosed pyogenic granuloma in a 50-year-old woman. The patient was referred for treatment of a lesion over the buccal and palatal gingiva close to the left upper first molar. It was purplish-red in color, approximately 3 cm in diameter, having a smooth surface, a pedicled and bleeding base, with seven years of evolution, and diagnosed as pyogenic granuloma. After three years of evasion, the patient returned reporting an increase in the lesion and difficulty in eating. Clinically the nodule was lobular in appearance, pink in color and smooth, pediculated, firm in consistency, non-bleeding, about 5 cm in its greatest extension, extending to the maxillary tuberosity. The lesion was excised and referred for histopathological examination, which led to the diagnosis of peripheral ossifying fibroma. The patient was followed for approximately 18 months, prosthetically rehabilitated, with satisfactory healing and no clinical signs of recurrence. The possible evolution of a pyogenic granuloma to a peripheral ossifying fibroma was observed in this case, based on the histopathological changes that occurred, with the development of calcified material, fibrous maturation, and decreased vascular content of the initial lesion after three years.
PubMed: 35145808
DOI: 10.7759/cureus.20904 -
Journal of Surgical Case Reports Jul 2021The ossifying fibroma is a benign fibro-osseous tumor rarely affecting the skull base. The incidence of ossifying fibroma itself is uncommon. It is considered to be an...
The ossifying fibroma is a benign fibro-osseous tumor rarely affecting the skull base. The incidence of ossifying fibroma itself is uncommon. It is considered to be an aggressive and fast-growing bone lesion. Early detection and complete surgical removal are essential to deal with its aggressive nature and recurrence. We report a case of a 20-year-old man admitted for the management of ossifying fibroma of the orbital roof extending inside the orbit mimicking meningioma and revealed by a progressive proptosis and headache. The patient underwent surgery for the subtotal removal of the tumor with its frontal infiltration with a good outcome. All meningiomas like tumors are not meningiomas and other tumors such as ossifying fibroma might be mistaken for meningioma and even get confirmation from the pathological anatomy study. Need be for these tumors to be looked at more closely for better therapeutic decision-making.
PubMed: 34276961
DOI: 10.1093/jscr/rjab304 -
Head and Neck Pathology Mar 2022Ossifying fibromas of the head and neck region are classified as cemento-ossifying fibroma (COF) (odontogenic origin), and two types of juvenile ossifying fibromas:...
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 12 years (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 6-66 years (mean: 24.6, median; 18.1 years). 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 207 months. 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.
Topics: Adolescent; Adult; Aged; Bone Cysts, Aneurysmal; Bone Neoplasms; Cementoma; Child; Fibroma, Ossifying; Humans; Meningeal Neoplasms; Meningioma; Middle Aged; Young Adult
PubMed: 34184157
DOI: 10.1007/s12105-021-01350-4