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.

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.

Juvenile psammomatoid ossifying fibroma: A radiolucent lesion to suspect preoperatively.

We present the cases of 2 expansive juvenile psammomatoid ossifying fibromas from sinonasal origin. Our first patient presented with a fronto-ethmoidal mass invading the orbit and the cranial base and had a bicoronal approach for tumor removal. The second patient also had orbital involvement and underwent an endoscopic surgery. Complete resection of juvenile psammomatoid ossifying fibromas is paramount to avoid recurrence, thus preoperative recognition of their characteristic thick outer mantle and radiolucent core on imaging is key, but can be challenging. We herein discuss and propose a novel algorithm of differential diagnoses of facial bone lesions based on radiologic appearance.

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 ossifying fibroma of the jaw: a retrospective study of 15 cases.

The management of patients with juvenile ossifying fibroma (JOF) remains controversial. To explore the correlations between different treatments and the patient prognosis, 15 cases of JOF of the jaw were reviewed. Five patients were male and 10 were female. Patient age at the time of disease onset ranged from 7 to 18 years (mean 10.9 years). Nine tumours were located in mandible and six in the maxilla. These cases typically manifested clinically as painless swelling of the jaw (9/15, 60%); 40% (6/15) of the cases were associated with pain, diplopia, stuffy nose, and/or rapid growth. Images of JOF can show a radiolucent, mixed, or ground glass-like appearance. Pathological examinations revealed 10 cases of juvenile trabecular ossifying fibroma (JTOF) and five cases of juvenile psammomatoid ossifying fibroma (JPOF). In terms of the treatment plan, six patients initially received radical surgery; nine patients underwent conservative treatment, among whom six (6/9, 66.7%) had one or more recurrence. At the end of the follow-up period, 12 patients had no evidence of tumour recurrence and three cases were alive with a tumour. In summary, surgeons should develop the surgical plan according to the extent of the lesion, relapse status, growth rate, and family choice, and these patients should be followed up closely.

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.