Dataset Information

Juvenile psammomatoid ossifying fibroma of the ethmoid sinus successfully treated by endoscopic sinus surgery: a case report.

ABSTRACT:

Background

Juvenile ossifying fibromas (JOF) are benign osteofibrous tumors very rarely located in paranasal sinus. The diagnostic and therapeutic tools applied in sinonasal inflammatory pathologies and other tumors fail to address a specific management in this rare pathology. Currently, the only available treatment is surgery. Endoscopic sinus surgery (ESS) allows a complete but minimally invasive approach compared to the open technique, especially for the minor demolition on growing bone structures.

Case description

We describe a case of a 13-year-old boy presenting in the Emergency Department for a head trauma. The computerized tomography (CT) revealed an ethmoid-maxillary bony mass suspected to be a juvenile ossifying fibroma. The patient underwent ESS. Histological examination confirmed a juvenil psammomatoid ossifyng fibroma (JPOF). A revision surgery with the same technique was required after 7 months due to relapse of the tumor. He did not develop postoperative complications. The 3-years follow-up did not show any signs of relapse.

Conclusions

Paranasal JOF is a challenge for the ear-nose-throat (ENT) surgeon. The principles of local disease control for relapse reduction are different from inflammatory diseases and other paranasal tumors. Severe organ damage and recurrences are possible if caution is not observed. Specific guidelines about management are required on the basis of the shared experiences in the few cases reported in literature.

SUBMITTER: Panatta ML

PROVIDER: S-EPMC10130680 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Publications

Juvenile psammomatoid ossifying fibroma of the ethmoid sinus successfully treated by endoscopic sinus surgery: a case report.

Panatta Maria Laura ML De Vincentiis Marcello M Marini Giulia G Santarsiero Sara S Sitzia Emanuela E

AME case reports 20230324

<h4>Background</h4>Juvenile ossifying fibromas (JOF) are benign osteofibrous tumors very rarely located in paranasal sinus. The diagnostic and therapeutic tools applied in sinonasal inflammatory pathologies and other tumors fail to address a specific management in this rare pathology. Currently, the only available treatment is surgery. Endoscopic sinus surgery (ESS) allows a complete but minimally invasive approach compared to the open technique, especially for the minor demolition on growing bo ...[more]

PMID: 37122968

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Project description:BackgroundOssifying fibroma (OF) of the craniofacial skeleton is a fibro-osseous lesion characterized by various patterns of bone formation in a cellular fibroblastic stroma. The molecular landscape of OF remains mostly unknown. There are a few known pathogenic abnormalities in OF, including HRPT2 mutations in conventional OF and SATB2 translocations in juvenile psammomatoid OF. On the other hand, conflicting reports exist regarding MDM2 gene amplification and chromosomal copy number alterations (CNA) in OF.MethodsSurgically removed biopsies and curettage specimens from OF patients were obtained. Clinical, radiographic, and pathologic features of tumors were reviewed. Genomic DNA was extracted from formalin-fixed, paraffin-embedded blocks of tumor tissue. Capture-based DNA next-generation sequencing targeting the coding regions 529 cancer genes and select introns was performed.ResultsWe identified 17 OF cases from 8 male and 8 female patients with mean age of 22 years (range 1-58 years). Nine case occurred in the gnathic bones and 8 in the extragnathic craniofacial bones. These cases included 3 juvenile psammomatoid OF, 6 conventional OF and 8 juvenile trabecular OF. Large-scale CNAs were present in 6 of 17 cases. Seven cases (41%) had focal amplifications including FOSB (n = 2, 11%), FOS (n = 4, 23%), COL1A1 (n = 4, 23%) and TBX3 (n = 5, 29%). Three cases (17%) had pathogenic CDC73 mutations. No cases showed focal MDM2 amplification.ConclusionsHere, we provided a comprehensive molecular characterization of OF that reveals a heterogeneous genetic profile with occasional large-scale CNAs (n = 6, 35%). FOS, FOSB, and TBX3 genes that regulate AP-1 transcriptional complex are frequently altered in OF (n = 7, 41%), chiefly in juvenile trabecular OF. These genes encode transcription factors that act as downstream effectors of the MAP kinase signaling pathway. MDM2 amplification is an exceedingly rare event in OF, if present at all, so identification of this event should continue to raise concern for low-grade gnathic osteosarcoma. In summary, our findings suggest that OF represents a heterogeneous group of tumors at the genetic level but dysregulation of the AP-1 pathway may play a role in pathogenesis of juvenile trabecular OF.

Project description:BackgroundTricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture.Case presentationA 12-year-old girl was admitted to the Department of Endocrinology and Diabetes for evaluation of brachydactyly and a right fibula fracture. Clinical examination revealed sparse scalp hair, a characteristic bulbous pear-shaped nose, and brachydactyly with significant shortening of the fourth metatarsal. Neither intellectual disability nor multiple exostoses were observed. Radiography of both hands showed brachydactyly and cone-shaped epiphyses of the middle phalanges of the digits of both hands with deviation of the phalangeal axis. Genetic analysis of TRPS1 identified a heterozygous germline sequence variant (p.Ala932Thr) in exon 6 in the girl and her father. Approximately 1 month before being admitted to our department, the girl experienced a minor fall and suffered a fracture of the proximal fibula in the right lower limb. The pathological cytological diagnosis of the osteolytic lesion was NOF. Ten months following the surgery, the lesion on the proximal fibula of the girl disappeared.ConclusionsIn conclusion, the present study is the first to report a rare case of NOF with a pathologic fracture in the fibula of a girl with TRPS. The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome. Radiological techniques and genetic analysis played key roles in the definitive diagnosis.

Dataset Information

Juvenile psammomatoid ossifying fibroma of the ethmoid sinus successfully treated by endoscopic sinus surgery: a case report.

Background

Case description

Conclusions

Publications

Juvenile psammomatoid ossifying fibroma of the ethmoid sinus successfully treated by endoscopic sinus surgery: a case report.

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