Abstract
Cemento-osseous dysplasia (COD) is the most common benign fibro-osseous lesion of the jaws and generally considered non-neoplastic and self-limited. Here, we present a 30-year old female who noticed a bilateral swelling of her posterior mandible with irregular periapical mineralization and incomplete root resorption on panoramic radiographs. A biopsy revealed florid COD and no further treatment was initiated. 9 years later, she presented with a progressive expansion of her left posterior mandible after being treated for bilateral breast cancer 4 and 8 years before. CT scans showed expansile and densely mineralized lesions in all four quadrants with the left posterior mandible showing a focal penetration of the buccal cortical bone. Biopsies revealed an osteoblastic high-grade osteosarcoma in the left and a COD in the right mandible, notably with cellular atypia in the spindle cell component. The patient underwent segmental resection of the left mandible with clear margins and adjuvant chemotherapy. Subsequent genetic testing identified a heterozygous germline TP53 mutation (p.V173G) which confirmed the clinically suspected Li–Fraumeni syndrome (LFS). 3 years after the resection, the patient is free of disease and the other foci of COD remained stable in size on follow-up imaging analyses. Our case illustrates LFS-related osteosarcoma developing within florid COD. Given the rarity of this coincidence, a causative relation between the two lesions seems unlikely but in patients with tumor predisposition syndromes it might be advisable to closely monitor even benign lesions like COD.
Highlights
Fibro-osseous lesions of the jaws comprise cemento-osseous dysplasia (COD), ossifying fibroma (OF) and craniofacial fibrous dysplasia (FD) which can present histologically similar but show distinct clinical and imaging features
In the case presented here, florid COD has been known for 9 years before an osteosarcoma in the context of Li–Fraumeni syndrome developed directly within the COD
We present a unique and first case of osteosarcoma development in a patient with Li–Fraumeni syndrome and florid cemento-osseous dysplasia
Summary
Fibro-osseous lesions of the jaws comprise cemento-osseous dysplasia (COD), ossifying fibroma (OF) and craniofacial fibrous dysplasia (FD) which can present histologically similar but show distinct clinical and imaging features. The most common member of this group is COD which has a predilection for middle-aged women of African descent. It is generally considered a non-neoplastic and self-limited, tumor-like. Whereas FD is known to be caused by a postzygotic activating mutation in the GNAS gene and to rarely undergo malignant transformation, the molecular pathogenesis for COD and OF is largely unknown and both lesions are not considered to represent precursor lesions of osteosarcoma or other malignant tumors of bone. In the case presented here, florid COD has been known for 9 years before an osteosarcoma in the context of Li–Fraumeni syndrome developed directly within the COD
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