Abstract
BackgroundThe clinicopathologic characteristics of multiple ossifying fibroma (OF) are unclear due to the condition’s rarity, making diagnosis challenging. Sporadic multiple OFs must be distinguished from hyperparathyroidism-jaw tumour syndrome (HPT-JT) related OF and other fibro-osseous lesions.MethodsMultiple OF cases were identified from ossifying fibroma cases. Clinical data including age, sex, anatomic site, radiographic features, clinical impression, treatment and available follow-up data as well as serum calcium, phosphorus, and parathyroid hormone (PTH) were recorded. GNAS and HRPT2 genetic mutations were examined in the two present cases. Case reports of sporadic multiple ossifying fibroma and HPT-JT-related OF were also reviewed.ResultsThe two present cases were confirmed as sporadic multiple OF, with no genetic GNAS and HRPT2 mutations found. The incidence of sporadic multiple ossifying fibroma was 2.0% (2/102). The total 18 sporadic multiform OF cases were characterized as followed: 13 (72.2%) female; 5 (27.8%) male; mean age 28.6 years; 2/16 (11.1%) cases only in the mandible; 4/18 (22.2%) cases only in the maxilla; and 12/18 (66.7%) cases in both the maxilla and mandible. Radiographically, the lesions were radiolucent in 5/18 (27.8%) cases and mixed density in 13/18 (72.2%) cases. Along with 24 cases of HPT-JT related OF were reviewed, sixteen (66.7%) patients were diagnosed with a single lesion, and 8 patients (33.3%) were diagnosed with multiple jaw lesions.ConclusionsSporadic multiple OFs are very rare, but must be distinguished from HPT-JT related OF. We strongly recommend that patients diagnosed with multiple ossifying fibromas receive serum PTH testing and mutation screening of HRPT2.Virtual slideshttp://www.diagnosticpathology.diagnomx.eu/vs/1194507146115753
Highlights
The clinicopathologic characteristics of multiple ossifying fibroma (OF) are unclear due to the condition’s rarity, making diagnosis challenging
In a recent review by our group that updated the GNAS genetic mutation rate of in fibrous dysplasia was up to 86% (264/307), while no mutation was found in patients diagnosed with ossifying fibroma [9]
One of the two mutational cases is hyperparathyroidism-jaw tumour syndrome (HPT-JT) syndrome because of the increased parathyroid hormone (PTH) level [18]. These findings indicate that the HPRT2 mutation is not common in the development of sporadic ossifying fibroma, and may not be used as a marker for diagnosis [5]
Summary
The clinicopathologic characteristics of multiple ossifying fibroma (OF) are unclear due to the condition’s rarity, making diagnosis challenging. Benign fibro-osseous lesions (BFOL) are a clinically diverse group of bone disorders that share similar histologic features and occur relatively commonly in the jaw. FD growth usually stabilizes when skeletal maturity is reached; surgical intervention is usually reserved for cosmetic or functional purposes [5,6,7]. These two lesions present diagnostic difficulties because of the uncertain significance of specific radiological and histological features, especially in biopsied specimens, and accurate diagnosis can be challenging. GNAS mutation detection may be helpful in differentiating fibrous dysplasia from other fibro-osseous lesions
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
