Psammomatoid Ossifying Fibroma Research Articles

Classification of Fibro-osseous Tumors in the Craniofacial Bones using DNA Methylation and Copy Number Alterations.

Fibro-osseous tumors of the craniofacial bones are a heterogeneous group of lesions comprising cemento-osseous dysplasia (COD), cemento-ossifying fibroma (COF), juvenile trabecular ossifying fibroma (JTOF), psammomatoid ossifying fibroma (PsOF), fibrous dysplasia (FD), and low-grade osteosarcoma (LGOS) with overlapping clinicopathological features. However, their clinical behavior and treatment differ significantly, underlining the need for accurate diagnosis. Molecular diagnostic markers exist for subsets of these tumors, including GNAS mutations in FD, SATB2 fusions in PsOF, mutations involving the RAS-MAPK signaling pathway in COD, and MDM2 amplification in LGOS. Since DNA methylation and copy number profiling are well established for the classification of central nervous system tumors, our aim was to investigate whether this tool might be used as well for classifying fibro-osseous tumors in the craniofacial bones. We collected a well-characterized, multicenter cohort with available molecular data, including COD (n = 20), COF (n = 13), JTOF (n = 10), PsOF (n = 25), FD (n = 23), LGOS (n = 4), and high-grade osteosarcoma (HGOS; n = 11). Genome-wide DNA methylation and copy number variation data were generated using the Illumina Infinium Methylation EPIC array interrogating >850 000 CpG sites. DNA methylation profiling yielded evaluable results in 73/106 tumors, including 6 CODs, 12 COFs, 6 JTOFs, 19 PsOFs, 18 FDs, 2 LGOSs, and 10 HGOSs. Unsupervised clustering and dimensionality reduction (Uniform Manifold Approximation and Projection) revealed that FD, extragnatic PsOF, and HGOS formed distinct clusters. Surprisingly, COD, COF, JTOF, and mandibular PsOF clustered together, apart from other craniofacial bone tumors. LGOS did not form a distinct cluster, likely due to the low number of cases. Copy number analysis revealed that FD, COD, COF, JTOF, and PsOF were typically characterized by flat copy number profiles compared to LGOS with gains of chromosome 12 and HGOS with multiple heterogeneous copy number alterations. In conclusion, using DNA methylation and copy number profiles, benign fibro-osseous tumors can be separated from low-grade and high-grade osteosarcomas in the craniofacial bones, which is of diagnostic value in challenging cases with overlapping clinicopathological features.

Interaction Between Sclerostin and Mast Cells in Fibro-Osseous Lesions of the Jaws.

To assess the sclerostin, β-catenin, and tryptase expression in fibro-osseous lesions (FOL) of the jaws. Immunohistochemistry analysis was performed for these proteins on FOL and non-lesional bone. The sclerostin-positive cells were scored from 0 (no expression) to 3 (high expression). We analyzed 46 FOL biopsies and selected 38 patients. Categorization showed 15 fibrous dysplasia (FD), eight juvenile trabecular ossifying fibroma (JTOF), two psammomatoid ossifying fibroma (PsOF), and 13 FOL. We found more sclerostin-positive cells in fibrous tissue than in bone, showing a phenotype like mast cells with strong dot-cytoplasmic positivity. The analysis of sclerostin-positive cell lesions (scored as 2 and 3) showed also tryptase positivity in 80.9% of 21 biopsies. β-catenin was diffusely expressed on the fibrous component, mostly with cytosol staining. Non-lesional bone showed sclerostin expression in medullary spaces and a few osteocytes. Sclerostin-positive cells are mostly found in the fibrous tissue of FOL, and the tryptase mast cell marker was present in most of the lesions that were positive for sclerostin.

Ossifying fibroma and juvenile ossifying fibroma: A systematic review on clinical and radiological parameters, treatment modalities and recurrence

Ossifying fibroma (OF) is a rare benign fibro-osseous neoplasm developing mostly in maxillo-facial bones. OF is divided in cemento-ossifying fibroma (COF), juvenile trabecular ossifying fibroma (JTOF) and psammomatoid ossifying fibroma (PSOF). The aim of this systematic review was to synthetize the existing literature on OF, investigating the clinical and radiological parameters related to the different forms of the disease, and to compare the treatment modalities according to their associated recurrence rate. Three databases were searched in March 2024, with an update in September 2024. Eligibility criteria included studies reporting on patients with OF, surgical treatment and follow-up data. Of the 2016 studies identified, 22 were retained after eligibility assessment. A total of 492 patients were included. Most OF presented with painless swelling. COF affected 61.1% of women with a mean age of 29.5, JTOF presented in 55.7% of male children, and PSOF had no predilection for sex with a mean age of 19.5 years. Enucleation and curettage were associated with an elevated recurrence rate in JTOF (12/30) and PSOF (10/16). PSOF (6 cases) and JTOF (15 cases) showed no recurrence with radical surgery. Same recurrence rates in COF were seen for conservative and radical surgery. Although radical surgery seemed to avoid recurrence in JTOF and PSOF, conservative surgery such as enucleation and curettage with additional peripheral ostectomy should be considered primarily to lessen the morbidity induced by radical resection. Close clinical and radiological follow-up should be undertaken to diagnose early recurrence.

Juvenile Psammomatoid Ossifying Fibroma: A Rare Case Report

Juvenile Ossifying Fibroma (JOF) is a rare, non cancerous overgrowth of bone in the face or jaw. There are two subtypes of JOF: Juvenile Psammomatoid Ossifying Fibroma (JPOF) and Trabecular Juvenile Ossifying Fibroma (JTOF). JPOF shows a modest male predominance (1.2:1), an age range of 3 to 49 years, with a mean age of 17.7 years. The majority of instances are associated with the orbital bones and paranasal sinuses. Proptosis is the most typical clinical sign of JPOF. Other features include nasal blockage, headaches, facial oedema, discomfort, recurrent sinusitis, and missing teeth. The lesion is identified under a microscope by a fibroblastic stroma that contains small ossicles resembling psammoma bodies. The preferred first-line treatment for JPOF is total resection due to the disease’s potential for rapid growth and recurrence. Hereby, the authors present a rare case of JPOF ossifying fibroma occurring in the left mandibular molar region of a 50-year-old female who complained of continuous expansion of the lower jaw. Although benign, the potential for recurrence necessitates follow-up and can impact treatment planning. Early diagnosis and intervention are crucial for a favourable outcome.

Diagnosis and Surgical Management of Juvenile Psammomatoid Ossifying Fibroma: A Case Report

Diagnosis and Surgical Management of Juvenile Psammomatoid Ossifying Fibroma: A Case Report

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.

Massive Juvenile Psammomatoid Ossifying Fibroma in the Mandible With a Complex Clinical Course: Case Report and Literature Review

The juvenile ossifying fibroma is a rare subset of the benign ossifying fibroma. These tumors have an aggressive behavior and often cause severe destruction of bone and surrounding tissue. JOF can be separated into the juvenile trabecular ossifying fibroma and juvenile psammomatoid ossifying fibroma. In this article, we present a case of an 18 year old male who presented with a rapidly growing massive tumor originating in the right mandible that caused severe local destruction. Due to the size of the tumor, the patient had impairment in many activities of daily living. Pre-operative management was further complicated due to the vascular nature of the tumor which resulted in spontaneous bleeding. The tumor was successfully resected and final pathology revealed a diagnosis of juvenile psammomatoid ossifying fibroma. In this article, we describe treatment of a debilitating mandibular tumor and provide recommendations for other clinicians who encounter similar cases. Additionally, the demographics and histopathological features of the juvenile ossifying fibroma and its subtypes are described.

A Case of Juvenile Psammomatoid Ossifying Fibroma in the Ethmoid Sinus

A Case of Juvenile Psammomatoid Ossifying Fibroma in the Ethmoid Sinus

Skull Base Juvenile Psammomatoid Ossifying Fibroma: Clinical Characteristics, Treatment, and Prognosis

The diagnosis and management for juvenile psammomatoid ossifying fibroma (JPOF) of the skull base are challenging, and clinical data are limited. A retrospective review of JPOF was performed, and the clinical characteristics, treatment strategy, and prognosis were analyzed. There were 23 patients pathologically confirmed with JPOF, most with JPOF located in the skull base area (19/23, 82.6%). Of those tumors, 43.5% presented with dura matter breakthrough. Most of the chief complaints were headache (n= 8, 34.8%) and visual impairment (n= 5, 21.7%). Most of the tumors were solid tumors with spherical appearance, frequently accompanied by cysts of various size (n= 14, 60.9%). Craniotomy, mostly via the frontal approach, was the most common approach in the present series, comprising 73.6% (17/23) of all cases. The endoscopic endonasal approach was performed in 6 cases (26.1%). In total, 62.5% of patients (15/23) underwent gross total resection, 8.7% of patients (2/23) underwent subtotal resection, and 26.1% of patients (6/23) underwent partial resection. After a mean follow up of 66.1 ± 36.1 months (range, 3-124), 3 patients (13.6%) suffered from tumor recurrence with a mean recurrence time of 13 months. The present series of skull base JPOFs showed that radical surgery combined with skull base reconstruction contributed to overall good prognosis. Further studies are needed to evaluate the long-term outcomes and to characterize its pathologic characteristics.

Juvenile Psammomatoid Ossifying Fibroma: a Case Report with 12 Months of Follow-Up

Juvenile psammomatoid ossifying fibroma (JPOF) is a type of ossifying fibroma with a unique histopathological pattern. We report a case of JPOF in a 12-year-old girl, causing an asymptomatic swelling in the posterior right mandibular region, which is a rare site for this tumor. The lesion was misdiagnosed as fibrous dysplasia, 5 years prior, at another hospital. On a physical examination, we also observed the absence of second premolars. There was no history of trauma, pain, or extraction of any teeth. An orthopantomograph revealed an extensive multilocular radiolucency occupying the entire mandibular body on the right side, with well-defined borders. An incisional biopsy was performed and the histopathological examination revealed psammomatoid ossifying fibroma as a final diagnosis. The complete excision of the tumor, osteotomy, and extraction of teeth 33, 34, 36, 75, 74, and 73 were performed, and the inferior alveolar nerve was preserved. There was no recurrence after a 12-month follow-up.

Recurrent juvenile psammomatoid ossifying fibroma with secondary aneurysmal bone cyst of the maxilla: a case report and review of literature.

Juvenile ossifying fibroma is a benign fibro-osseous lesion commonly affecting the extra-gnathic craniofacial skeleton of the young individuals. The psammomatoid and trabecular variants are its two histopathological subtypes having distinctive clinico-pathological characteristics. Secondary aneurysmal bone cysts are frequently reported to arise in the pre-existing fibro-osseous lesions but rarely reported in the psammmomatoid variant of the juvenile ossifying fibroma. Such hybrid lesions, especially massive in size, tend to exhibit a greater aggressive growth potential and higher recurrence rate and mandate complete surgical removal of the lesion along with a long-term follow-up. The objective of this case report was to present a rare incident of recurrent psammomatoid ossifying fibroma associated with a secondary aneurysmal bone cyst in the maxillary jaw bone of a young patient and review the similar published reports in the English literature.

Juvenile Psammomatoid Ossifying Fibroma of Fronto-Ethmoid Complex Mimicking Fibrous Dysplasia: Case Report

Juvenile Psammomatoid Ossifying Fibromais a rare fibro-osseous tumor seen in children and adolescentand mostly arising from the cranio-facial bone.We report a case of 18-year-old boy who presented with diplopiaand progressive right fronto-orbital swelling. On plain radiograph and CT, it was diagnosed as fibrous dysplasiaand mucocele as differential diagnosis. The tumor was resected and histopathological examination showed psammomatoid features. Therefore, the diagnosis of Juvenile Psammomatoid Ossifying Fibroma must be based on both radiological and histopathological findings.

Juvenile ossifying fibroma: an analysis of clinico-pathological features in a case series with a literature review

Juvenile Aggressive Ossifying Fibroma (JAOF) is divided into two entities namely Juvenile Psammomatoid Ossifying Fibroma (JPOF) and Juvenile Trabecular Ossifying Fibroma (JTOF). JAOFs are aggressive but benign tumours that require clinico-pathological correlation to arrive at the definitive diagnosis. We report nine new cases of JPOF and 6 cases of JTOF with a brief review of the literature to aid correct diagnosis of these two different entities. According to the clinico-pathological analysis both JPOF and JTOF had occurred in children and adults, with a mean age of 28.6 years and 21 years at presentation respectively. JPOF showed a male predilection while equal gender distribution was observed in JTOF. Both tumours occurred most often in the mandible. Regarding the histopathological features all tumours were unencapsulated. All cases of JPOF showed presence of psammoma bodies which can be considered as a main diagnostic feature. JTOF showed osteoid and immature woven bone trabeculae. Osteoblastic rimming was commonly observed among JTOF but absent in JPOF. Other histopathological features did not show any striking difference between the two lesions. In conclusion, the term “Juvenile aggressive ossifying fibroma” is a misnomer as it can occur in adults as well. Therefore, the word “Juvenile” should be excluded when renaming the tumour which is a “need of the hour”. Further, the study demonstrates the use of demographic, radiological and histopathological features with clinico-pathological correlation to diagnose and exclude mimics of JPOF and JTOF.

A large psammomatoid ossifying fibroma with proptosis: A case report

The psammomatoid ossifying fibroma (POF) is a rare and benign fibro-osseous lesion predominantly affecting the paranasal sinuses and orbits of children and young adults. The diagnosis and management of the lesion remains challenging. The present study reported a rare case of a large POF in a 39-year-old male patient. The patient had a 30 year history of a slowly growing tumor and this had resulted in right craniofacial deformity, as well as right lateral displacement of the eye ball. Due to the large tumor size, surgical removal of the lesion was the predominant treatment. At 5 months after complete surgical resection, the patient was free from any symptoms. The radiological and histological findings, as well as the surgical management, were presented and the relevant literature was reviewed.

篩骨洞に発生したjuvenile psammomatoid ossifying fibroma例

線維性骨病変は，骨形成性線維腫，線維性異形成症，セメント質骨異形成症に分類される。骨形成性線維腫はさらにjuvenile psammomatoid ossifying fibroma（JPOF）やjuvenile trabecular ossifying fibroma（JTOF）に分類され，JPOFは組織学的に良性の腫瘤であるが，局所侵襲性のある非常に稀な疾患である。今回我々は左篩骨洞に発生した腫瘤を内視鏡下に摘出術を施行しJPOFと診断した稀な症例を経験したので報告する。症例は7歳5か月の男児。2か月前より出現した左眼球突出のため当院眼科を紹介された。眼窩MRI撮影したところ左篩骨洞に充実性腫瘤を認めたため当科を紹介受診となった。腫瘤は38×24mmでMRI所見はT2強調画像で高信号，T1強調画像で軽度高信号であった。単純CTでは腫瘤内部は比較的高吸収値で周囲骨の膨隆性変化と左眼窩内側壁の圧排と一部壁の消失を認めた。視野欠損や視力障害などは認めなかったが，診断と治療目的で全身麻酔下に内視鏡下鼻内副鼻腔手術を施行した。腫瘤は弾性硬で周囲に骨性隔壁構造を有しており，内部は易出血性であった。眼窩内側壁が一部欠損し，出血も多かったため手術は診断目的を優先し眼窩側の骨性隔壁物は残して総中鼻道側の隔壁を除去し手術を終了とした。病理組織学検査でJPOFと診断した。

Juvenile psammomatoid ossifying fibroma of maxillary sinus: case report with review of literature.

Juvenile psammomatoid ossifying fibroma is a rare benign fibro-osseous tumor of the gnathic and extragnathic craniofacial bones, particularly the periorbital, frontal and ethmoid bones. It is slowly progressive with aggressive local growth, invasion and destruction of the surrounding tissue, bone erosion and recurrence after surgical excision. It is distinguished from the other fibro-osseous lesions by its age of onset, clinical presentation and aggressive behavior.

Juvenile Psammomatoid Ossifying Fibroma of the Forehead, Radical Resection, and Defect Coverage with a Hydroxyl-Apatite Composite—A Case Report

Juvenile Psammomatoid Ossifying Fibroma of the Forehead, Radical Resection, and Defect Coverage with a Hydroxyl-Apatite Composite—A Case Report

Juvenile Psammomatoid Ossifying Fibroma with Visual Disturbance: A Case Report with Imaging Features

Juvenile psammomatoid ossifying fibroma (JPOF) of the sphenoid sinus is a rare subtype of ossifying fibroma of the sinonasal cavity and facial bone in young adults. Computed tomographic (CT) and magnetic resonance (MR) imaging features of JPOF have been reported, but to our knowledge, positron emission tomography (PET) findings have not been described. We present a 19-year-old woman with right visual disturbance whom we diagnosed with JPOF and describe imaging findings in her case. CT revealed a well-circumscribed fibro-osseous mass surrounding the right optic canal, with expansile, mixed soft tissue and thick bone density. MR imaging showed low signal intensity in the mass on both T(1)- and T(2)-weighted images. [(18)F]fluorodeoxyglucose ([(18)F]FDG) and [(11)C]methyl-L-methionine ([(11)C]Met) PET/CT showed abnormal uptake in the lesion, with standardized uptake values (SUV) of 6.2 ([(18)F]FDG) and 4.6 ([(11)C]Met). Familiarity with the imaging features of this rare disease aids its differentiation from other more familiar lesions to permit appropriately aggressive therapy and improve prognosis.

A rare case of psammomatoid ossifying fibroma in the sphenoid bone reconstructed using autologous particulate exchange cranioplasty

Psammomatoid ossifying fibroma (POF), a variant of ossifying fibroma, is a benign fibroosseous lesion typically arising within the nasal cavity, paranasal sinuses, and orbit. Cranial vault involvement is exceedingly rare, with very few cases reported in the literature. The authors report a case of POF in the neurocranium of an 11-year-old child, 4 years after chemotherapy and radiation therapy for acute lymphoblastic leukemia. This case is reported in view of its rarity, novelty of presentation, and the difficulty in diagnosis due to its radiological resemblance to aneurysmal bone cyst or monostotic cystic fibrous dysplasia, further aggravated by the clinical scenario. A novel technique of cranial reconstruction called autologous particulate exchange cranioplasty was used following tumor excision.

Psammomatoid ossifying fibroma with secondary aneurysmal bone cyst of frontal sinus

IntroductionPsammomatoid ossifying fibroma (POF) is a rare, slowly progressive tumor of the extragnathic craniofacial bones, with a tendency toward locally aggressive behavior.Case reportThe pathognomonic histologic feature is the presence of spherical ossicles, which are similar to psammoma bodies.DiscussionFibro-osseous lesions composed of POF and aneurysmal bone cyst (ABC) of the frontal sinus in a 12-year-old boy is reported, followed by a literature review.ConclusionTo our knowledge, this is the second case of a fibro-osseous lesion composed of ossifying fibroma with reactive ABC to be reported in the literature.