Exploring a rare case of juvenile psammomatoid ossifying fibroma in the ethmoid: a case study and review.

Juvenile ossifying fibroma (JOF) and its variants, including juvenile psammomatoid ossifying fibroma (JPOF), represent rare yet clinically significant benign fibro-osseous lesions that primarily occur in children and young adolescents. They can be found in diverse anatomical sites such as the jaw, nasal cavity, paranasal sinuses, and orbit. JOF exhibits an aggressive nature, necessitating early radiological detection and surgical intervention. Similarly, JPOF, with a locally malignant potential, requires surgical removal, typically conducted through endoscopic approaches. We report a case of a 5-year-old girl with JPOF arising in the ethmoid, revealed by recurrent epistaxis and proptosis. The text emphasizes the importance of early diagnosis through histopathology as a diagnostic tool and underscores the need for appropriate management.

Giant fronto-spheno-orbitary juvenile psammomatoid ossifying fibroma: Case report and literature review.

Juvenile psammomatoid ossifying fibroma (JPOF) is an osteofibrous neoplasm that originates in the craniofacial skeleton typically during the first three decades of life. JPOFs usually involve the orbit, paranasal sinuses or the jaws. Extensive involvement of the anterior cranial base with compromised visual function is a rare phenomenon. In such clinical context, a definite diagnosis can only be made on the basis of histopathological findings, given the absence of pathognomonic radiological features. Despite being considered a benign entity, JPOFs present a locally aggressive behavior. Therefore, these neoplasms must be included in the differential diagnosis in every patient harboring a skull base osteofibrous lesion, and, once diagnosed, gross total surgical removal should be attempted. In this study, we present our experience in the diagnosis and treatment of a patient diagnosed with a giant JPOF involving the cranial base.

Juvenile Ossifying Fibroma of the Nasal Bones: A Rare Cause of Chronic Epistaxis.

Juvenile ossifying fibroma (JOF) is a rare type of tumor originating from the bones of the face or cranium. It usually arises in the maxilla and rarely in the mandible. The complications related to the tumor are because of local expansion and resultant effect on the nearby organs. We present the case of an eight-year-old girl with a history of headache and chronic epistaxis for the past six months who presented acutely to the hospital due to swelling, redness, and pain in both eyes, with continuous epistaxis. After investigations, she was found to have a nasal tumor that was confirmed to be JOF of the nasal bone on histopathology. Surgical management was done and the tumor was resected.

Cranial Juvenile Psammomatoid Ossifying Fibroma: A Rare Entity.

Juvenile ossifying fibroma (JOF) is an unusual fibro-osseous lesion primarily occurring in children and young adolescents. Anatomically, this lesion could predominantly arise from the bilateral orbits, paranasal sinuses, maxilla, or mandible. Although it is a benign lesion of osseous origin, it is an aggressive variant of ossifying fibroma of the jaw. Due to the aggressive nature of this lesion and its high tendency for recurrence, early radiological detection and prompt surgical treatment are required. The histologic diagnosis of this entity is purely based on hematoxylin and eosin (H&E), but immunohistochemistry and molecular diagnostic studies can also be performed in challenging cases. A thorough histopathological examination of this lesion is recommended because it can easily be mistaken for another benign fibrosis lesion arising at the same anatomical location. Here, we report the case of a juvenile psammomatoid ossifying fibroma (JPOF) occurring in a 12-year-old boy. The tumor is arising at an extracranial location behind the left anterior cranial fossa.

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.

Juvenile psammomatoid ossifying fibroma in paranasal sinuses: A case report and literature review.

Juvenile psammomatoid ossifying fibroma (JPOF) is a rare, benign type of ossifying fibroma. JPOFs predominantly present as rapidly growing masses with a high recurrence rate. We report a 40-year-old male patient who suffered from a large tumor with multiple invasions into the paranasal sinuses. Total excision was performed, and significant relief of clinical symptoms was recorded after 4 months of follow-up. Multi-departmental management involving radiologists, neurology surgeons, craniofacial surgeons, pathologists, and otolaryngologists is vital for JPOF treatment. First-line treatment options include total or partial resection, depending on the patient's condition.

Juvenile ossifying fibroma of maxilla: Concurrent presentation of psammomatoid and trabecular variant.

Juvenile Ossifying Fibroma (JOF) is a type of ossifying fibroma which occurs in younger individuals and manifests as trabecular and psammomatoid variants. The nature and behaviour of these variants vary, and they exhibit characteristic histopathological appearance. The solitary presentation of these subtypes is reported in numbers, but co-occurrence of both these entities is very few. Here, we present a case of JOF with the co-occurrence of both trabecular and psammomatoid variants in relation to an incompletely healed extraction socket.

Juvenile psammomatoid ossifying fibroma with aneurysmal bone cyst in the mandible: A report of a rare case.

Aneurysmal bone cysts (ABCs) are rare benign lesions seen as locally destructive, rapidly expansile, and mostly affecting the long bones and vertebrae. The association of ABCs with juvenile psammomatoid ossifying fibroma (PsJOF) is predominantly seen in the extra gnathic region, and it is extremely rare with only a few cases reported so far in the mandible. Here, we report one such case of a hybrid lesion in a 30-year-old male, who presented with a solitary swelling of the right mandible showing partial obliteration of lingual vestibular sulcus, which was histologically confirmed as PsJOF as a preexisting lesion, transforming into an ABC. Such hybrid lesions are usually misdiagnosed and have been sparsely reported in the literature.

Psammomatoid ossifying fibroma in the extraconal space: a case report.

A 24-year-old patient with left eye proptosis and intermittent pain for 5 months was admitted to our hospital. Physical examination revealed neither extra ocular muscle limitations nor visual field defects. Magnetic resonance imaging (MRI) revealed a multicystic mass in the left extraconal space compressing the superior oblique muscle and adjacent frontal lobe. Layered hemorrhage was observed within the lesion in the 1-month follow-up MRI. Dynamic contrast enhanced imaging showed mild increased perfusion of the surrounding peripheral portion. Magnetic resonance spectroscopy showed an increased lactate/lipid peak of 1.3 ppm. Combined open and endonasal surgery was performed, and the final diagnosis was psammomatoid ossifying fibroma. The tumor was positive for vimentin, and negative for smooth muscle actin, S100 and epithelial membrane antigen. Despite its rarity, psammomatoid ossifying fibroma should be considered when multicystic lesions with peripheral enhancement near the orbit exhibit progressive inner hemorrhage.

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 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.

First presentation of a frameshift mutation in the SETD2 gene of a juvenile psammomatoid ossifying fibroma (JPOF) associated with an aneurysmal bone cyst.

BACKGROUND: The rarity of juvenile psammomatoid ossifying fibroma (JPOF) and lack of cytogenetic studies prompted us to report a novel SETD2 gene mutation in a benign odontogenic tumour. CASE PRESENTATION: A 21-year-old man presented with a hard, expanded mandibular cortex. Computed tomography revealed multilocular radiopacity in the mandible; this was reconstructed via segmental mandibulectomy using a vascularised iliac crest flap. Based on the clinical and histological findings, we diagnosed JPOF associated with an aneurysmal bone cyst. Microscopically, the solid area was characterised by many rounded or angular ossicles in a cellular fibrous stroma. The stromal cells were spindle-like or stellate. Next-generation sequencing detected a frame shift mutation of the SETD2 gene, while the copy number was normal. CONCLUSIONS: Our findings suggest further genetic studies should be performed to assess whether this mutation is related to tumour genesis. .

Juvenile psammomatoid ossifying fibroma of the parietal bone and review of calvarial presentations: illustrative case.

BACKGROUND: Juvenile psammomatoid ossifying fibroma (JPOF) is an uncommon benign fibro-osseous lesion that only rarely presents in the calvaria. OBSERVATIONS: The authors reported a case of JPOF in the left parietal bone of a 20-year-old patient and reviewed the 27 other cases of JPOF occurring in the calvaria as reported in the literature. LESSONS: JPOF rarely presents in the calvaria, and because diagnosis is a histopathologic one, clinicians should consider this entity when presented with a lytic, expansile mass on imaging. Little is known about the molecular mechanisms driving development of JPOF. MDM2 amplification may play a role, although this was not seen in the case presented herein.

Soft Tissue Special Issue: Gnathic Fibro-Osseous Lesions and Osteosarcoma.

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.

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

OBJECTIVE: The diagnosis and management for juvenile psammomatoid ossifying fibroma (JPOF) of the skull base are challenging, and clinical data are limited. METHODS: A retrospective review of JPOF was performed, and the clinical characteristics, treatment strategy, and prognosis were analyzed. RESULTS: 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. CONCLUSIONS: 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.

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.

Rare case of a recurrent juvenile ossifying fibroma of the lumbosacral spine.

Juvenile ossifying fibroma (JOF) is a rare benign bone tumor that occurs most frequently in the craniofacial bones of children and young adults. There are few case reports that describe its involvement outside the craniofacial skeleton, especially within the spinal column. While JOF is classified as a benign lesion, it may be locally aggressive and demonstrate a high propensity for recurrence, even after resection. Definitive surgical management may be challenging in naive cases, but it is particularly challenging in recurrent cases and when extensive spinal reconstruction is warranted. In this report, the authors describe the diagnosis and surgical management of a 29-year-old man who presented with a large recurrent sacral trabecular-subtype JOF. A review of literature regarding JOFs, management of recurrent primary spinal tumors, and sacral reconstruction are discussed.

Juvenile psammomatoid ossifying fibroma in paranasal sinus and skull base.

CONCLUSION: The endoscopic transnasal approach with IGS is a safe and effective technique, allowing completely resection of JPOF, with minimal morbidity and recurrence. OBJECTIVES: JPOF is a benign but locally aggressive fibro-osseous lesion. This study presents a series of JPOF cases, involving anterior skull base and orbit, treated by endoscopic transnasal approach with image guidance system (IGS) to resect the mass completely. METHOD: This study retrospectively reviewed the clinical presentations, surgical procedures, and complications of 11 patients with JPOF who were treated by endoscopic approach from May 2009 to April 2014. All patients were followed by endoscopic and CT scan evaluations during follow-up. RESULTS: All of the 11 cases were boys, with a mean age of 11.8 years (range = 6-17 years). The size of mass in the paranasal sinus ranged from 2.5-4.6 cm in greatest dimension (mean = 3.7 cm), and the medial orbital wall and cranial base were involved in all patients. All 11 patients received successful operation and were relieved from symptoms without mortality and major complications. During follow-up (range from 17-67 months; mean follow-up = 25.8 months), only one patient was recurrent in local position. The skull base partial resected during surgery was found to rebuild after 1 year.

Cranial juvenile psammomatoid ossifying fibroma: case report.

Juvenile psammomatoid ossifying fibroma (JPOF) is a fibroosseous tumor that arises in the craniofacial bones in young people. This lesion usually originates in the jaw, orbit, and ethmoid complex but can also be associated with the skull base and calvaria. Diagnosis must be made based on observing typical radiological and histopathological features. Although JPOF is a rare pathological entity, neurosurgeons must consider this odontogenic lesion in the differential diagnosis of skull masses given the lesion's aggressive behavior and locally invasive growth. Treatment must be gross-total resection. In the following article, the authors present a case of cranial JPOF and discuss various aspects of this entity.