Abstract
A large number of hereditary and non-hereditary syndromes are associated with an increased risk of bone tumors. The diagnosis of some of these syndromes may be made based on the imaging findings: enchondromatosis, multiple osteochondromas, McCune-Albright syndrome, Mazabraud syndrome, and Jaffe-Campanacci syndrome. Tumor syndromes may be associated with a higher risk of malignant transformation of the bone tumors; secondary chondrosarcomas occur more frequently in patients with Ollier’s disease, Maffucci’s syndrome, and multiple osteochondromas compared to those with a solitary enchondroma or a solitary osteochondroma.
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Suggested Reading
Bovee JV. Multiple osteochondromas. Orphanet J Rare Dis. 2008;3:3.
Cabral CE, Guedes P, Fonseca T, Rezende JF, Cruz Junior LC, Smith J. Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud's syndrome. Skelet Radiol. 1998;27:278–82.
Case DB, Chapman Jr CN, Freeman JK, Polga JP. Best cases from the AFIP: Atypical presentation of polyostotic fibrous dysplasia with myxoma (Mazabraud syndrome). Radiographics. 2010;30:827–32.
Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. 2008;22:55–69.
Cherix S, Bilde Y, Becce F, Letovanec I, Rudiger HA. Multiple non-ossifying fibromas as a cause of pathological femoral fracture in Jaffe-Campanacci syndrome. BMC Musculoskelet Disord. 2014;15:218.
Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008;3:12.
Foreman KL, Kransdorf MJ, O'Connor MI, Krishna M. AIRP best cases in radiologic-pathologic correlation: Maffucci syndrome. Radiographics. 2013;33:861–8.
Hau MA, Fox EJ, Cates JM, Brigman BE, Mankin HJ. Jaffe-Campanacci syndrome. A case report and review of the literature. J Bone Joint Surg Am. 2002;84-A:634–8.
Iwasko N, Steinbach LS, Disler D, et al. Imaging findings in Mazabraud’s syndrome: seven new cases. Skelet Radiol. 2002;31:81–7.
Karasick D, Schweitzer ME, Eschelman DJ. Symptomatic osteochondromas: imaging features. AJR Am J Roentgenol. 1997;168:1507–12.
Kransdorf MJ, Murphey MD. Diagnosis please. Case 12: Mazabraud syndrome. Radiology. 1999;212:129–32.
Lee KC, Davies AM, Cassar-Pullicino VN. Imaging the complications of osteochondromas. Clin Radiol. 2002;57:18–28.
Mellon CD, Carter JE, Owen DB. Ollier's disease and Maffucci’s syndrome: distinct entities or a continuum. Case report: enchondromatosis complicated by an intracranial glioma. J Neurol. 1988;235:376–8.
Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH. Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics. 2000;20:1407–34.
Nguyen BD, Ram PC. Mazabraud's syndrome with sarcomatous transformation: scintigraphic and radiologic imaging. Clin Nucl Med. 2005;30:829–30.
Pannier S, Legeai-Mallet L. Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol. 2008;22:45–54.
Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M. The malignant potential of enchondromatosis. J Bone Joint Surg. 1987;69-A:269–74.
Silve C, Juppner H. Ollier disease. Orphanet J Rare Dis. 2006;1:37.
Stewart DR, Brems H, Gomes AG, et al. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genet Med. 2014;16:448–59.
Stieber JR, Dormans JP. Manifestations of hereditary multiple exostoses. J Am Acad Orthop Surg. 2005;13:110–20.
Sundaram M, McDonald DJ, Merenda G. Intramuscular myxoma: a rare but important association with fibrous dysplasia of bone. AJR Am J Roentgenol. 1989;153:107–8.
Vanhoenacker FM, Van Hul W, Wuyts W, Willems PJ, De Schepper AM. Hereditary multiple exostoses: from genetics to clinical syndrome and complications. Eur J Radiol. 2001;40:208–17.
Walker RE, Schwartz RK, Gale DR. Musculoskeletal case of the day. Mazabraud's syndrome (intramuscular myxomas associated with fibrous dysplasia of bone). AJR Am J Roentgenol. 1999;173:797.
Zwenneke Flach H, Ginai AZ, Wolter OJ. Best cases from the AFIP. Maffucci syndrome: radiologic and pathologic findings Armed Forces Institutes of Pathology. Radiographics. 2001;21:1311–6.
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Kang, H.S., Ahn, J.M., Kang, Y. (2017). Tumor Syndromes. In: Oncologic Imaging: Bone Tumors. Springer, Singapore. https://doi.org/10.1007/978-981-287-703-1_9
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DOI: https://doi.org/10.1007/978-981-287-703-1_9
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