Case studyOsteosarcoma in a patient with Mccune-Albright syndrome and Mazabraud’s syndrome: a case report emphasizing the cytological and cytogenetic findings☆
Section snippets
Case report
This 44-year-old African-American woman with a history of Mazabraud’s and McCune-Albright syndromes complicated by osteosarcoma of the fibrous dysplastic right proximal radius and distal humerus had undergone wide resection 2 years earlier. The patient also had a history of multiple intramuscular myxomas. She presented to our institution with the chief complaint of an enlarging mass (12 × 11 cm) on the lateral aspect of her right elbow. On physical examination, the mass was tender to palpation.
Discussion
In a recent review of the literature, Cabral et al7 found only 2 patients who had sarcomatous transformation of the 35 patients with Mazabraud’s syndrome reported to date. One additional patient was subsequently reported by us.3 The incidence of secondary malignancies in non-Mazabraud’s-associated fibrous dysplasia is estimated at 0.4% to 0.5%, with a greater risk for sarcomatous transformation in males and in all patients with polyostotic involvement.4 Malignant neoplasms associated with
Acknowledgements
The authors thank Cheryl A. Boessow for her expert assistance with the cytogenetics and FISH studies.
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Cited by (42)
Diseases resulting from defects in the G protein G<inf>s</inf>α
2019, Principles of Bone BiologyChondrosarcoma of the femur in Mazabraud's syndrome: A first case study
2015, Orthopaedics and Traumatology: Surgery and ResearchCitation Excerpt :Since the disease typically remains benign, clinical and radiographical monitoring is carried out as a rule. Malignant transformation of FD into osteosarcoma in the context of Mazabraud syndrome is extremely rare – only 6 published cases exist [2,4–8]. Although clinical monitoring is recommended in most cases, we will describe a unique case of malignant transformation of femur FD into high-grade chondrosarcoma in a patient with Mazabraud syndrome and point out the warning signs that clinical practitioners must be aware of.
Chondrosarcoma of the femur in Mazabraud's syndrome: A first case study
2015, Revue de Chirurgie Orthopedique et TraumatologiqueBenign Tumors and Tumor-Like Conditions of Bone
2014, Pathobiology of Human Disease: A Dynamic Encyclopedia of Disease MechanismsMazabraud's syndrome. A case with multiple myxomas
2012, Revue de Chirurgie Orthopedique et TraumatologiqueMazabraud's syndrome. A case with multiple myxomas
2012, Orthopaedics and Traumatology: Surgery and ResearchCitation Excerpt :DiCaprio and Enneking [20] have suggested that patients with Mazabraud's syndrome may require a diagnostic work-up including evaluation by an endocrinologist, radiographs, and whole-body scintigraphy or CT; followed by radiographs at 6-month intervals given the increased risk of malignant transformation of the fibrous dysplasia lesions to osteosarcoma [6,20,36], of 8.3% instead of 1% [20]. To date, six cases of osteosarcoma have been reported [5,10,36–39]. All the osteosarcomas developed at unusual sites: there were two cases each at the radius, tibia, and humerus.
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Supported in part by grants from the National Institutes of Health (CA 93796 and AR 46031, to G.S.), the University of Alabama Health Service Foundation, and the Haley’s Hope Memorial Support Fund for Osteosarcoma Research.