Elsevier

Human Pathology

Volume 34, Issue 12, December 2003, Pages 1354-1357
Human Pathology

Case study
Osteosarcoma in a patient with Mccune-Albright syndrome and Mazabraud’s syndrome: a case report emphasizing the cytological and cytogenetic findings

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Abstract

Osteosarcomatous transformation in fibrous dysplasia is unusual. The incidence is increased in patients with concomitant Mazabraud’s syndrome and McCune-Albright syndrome. We report the cytological, histological, and cytogenetic findings of this rare entity arising from a mass in the right elbow of a 44-year-old African-American woman. The fine-needle aspiration (FNA) findings were diagnostic of malignancy, with markedly atypical spindle and polygonal cells admixed with osteoid. The diagnosis of osteosarcoma by FNA was subsequently further confirmed by histological evaluation of an above-elbow amputation specimen. Fluorescence in situ hybridization and comparative genomic hybridization demonstrated trisomies of chromosomes 5 and 7 in the fibrous dysplasia and osteosarcoma. In addition, multiple chromosomal abnormalities were also noted in the osteosarcoma. We are unaware of any previous reports of the cytogenetic findings in the tissue of this rare condition, and argue for the value of FNA in the evaluation of such patients under selected conditions.

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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    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.

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