Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

Faivre, Laurence; Nivelon-Chevallier, A; Kottler, M.L.; Robinet, C.; Kien, Philippe Khau Van; Lorcerie, B.; Munnich, A.; Maroteaux, P; Cormier‐Daire, Valérie; LeMerrer, Martine

doi:10.1002/1096-8628(2000)9999:999<00::aid-ajmg1135>3.0.co;2-a

Cited by 56 publications

(23 citation statements)

References 22 publications

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“…2 As a result, many advocate use of the term "psammomatoid" to describe the non-trabecular rounded, basophilic mineralized deposits, particularly when located at some distance from the teeth. 13 Presentation is most often during the 2nd and 3rd decades with most cases diagnosed before the age of 30 but cases can be picked up throughout adult life. Some authors regard bone and cementum as essentially the same tissue.…”

Section: Classificationmentioning

confidence: 99%

Fibro-osseous lesions of the head and neck

Hall

2012

Diagnostic Histopathology

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This review aims to overview key histopathological features and provide diagnostic clues for a selection of the fibro-osseous lesions of the jaws and facial bones. These form a diverse group of conditions with differing aetiologies but similar histological appearances and some may be part of more generalized systemic disease. It will become apparent that for this group of conditions, diagnosis cannot be made by examination of biopsy material by a pathologist in isolation and both clinical and radiological correlation are needed. However, there are some subtle histopathological features that can allow one diagnosis to be favoured over all others which will be outlined here. Identification of these in material sent for histopathological analysis should assist the multidisciplinary team in making a definitive diagnosis.

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Section: Classificationmentioning

confidence: 99%

Fibro-osseous lesions of the head and neck

Hall

2012

Diagnostic Histopathology

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“…The identification of GNAS1 mutations also in Mc Cune Albright syndrome (postzygotic) and nonskeletal-isolated endocrine lesions clarified that these disorders represent a spectrum of phenotypic expressions of the same basic disorder, probably reflecting different patterns of somatic mosaicism [15]. Moreover, GNAS1 mutations are also found in (intramuscular and cellular) myxomas [16] and the cooccurrence of fibrous dysplasia and myxomas is known as Mazabraud syndrome [17]. Interestingly, GNAS1 mutations are found in the cooccurring myxomas as well and are absent in a morphological mimic of myxoma: low-grade myxofibrosarcoma [18].…”

Section: Clues About Sarcoma Pathogenesismentioning

confidence: 99%

Molecular pathology of sarcomas: concepts and clinical implications

Bovée

Hogendoorn

2009

Virchows Arch

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The molecular genetic changes that have been described in sarcomas over the past era have aided our understanding of their pathogenesis. The majority of sarcomas carry nonspecific genetic changes within a background of a complex karyotype. These constitute the challenges in sarcoma research for unraveling a putative multistep genetic model, such as for chondrosarcoma, and finding targets for therapeutic strategies. Approximately 15–20% of mesenchymal tumors carry a specific translocation within a relatively simple karyotype. The resulting fusion products act either as transcription factors upregulating genes responsible for tumor growth, as for instance in Ewing sarcoma, or translocate a highly active promoter in front of an oncogene driving tumor formation, as for instance in aneurysmal bone cyst. In addition, a small subset of mesenchymal tumors have specific somatic mutations driving oncogenesis. The specific genetic changes unraveled so far had great impact on the classification of bone and soft tissue tumors. In addition, these changes can assist the pathologist in the differential diagnosis of some of these entities, especially within the groups of small blue round cell tumors and spindle cell tumors, if performed in specialized centers. While a putative association between certain fusion products and outcome is still under debate, the role of predicting response of targeted therapy has been well established for KIT and PDGFRA mutations in gastrointestinal stromal tumors.

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“…The fibrous dysplasia lesions predominantly affect the femurs, tibias, ribs, pelvis, and skull. Polyostotic forms often occur as part of McCune Albright syndrome, which manifests as endocrine abnormalities with precocious puberty or thyroid dysfunction (or more rarely Cushing's syndrome, diabetes, acromegaly, or hyperparathyroidism [28]) and as skin pigmentation alterations with café-au-lait spots [6,27,[29][30][31].…”

Section: Discussionmentioning

confidence: 99%

Mazabraud's syndrome. A case with multiple myxomas

Gaumétou

Toméno

Anract

2012

Orthopaedics & Traumatology: Surgery & Research

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Mazabraud's syndrome is defined as the combination of one or more intramuscular myxomas and fibrous dysplasia of bone. The diagnosis is important given the increased risk of malignant transformation of the bone lesions. We report a case in a 56-year-old patient with a 14-year follow-up during which multiple surgical procedures were required to remove myxomas (present at more than 15 sites). The resected myxomas were large and progressive. Unique features in this case include the long follow-up and the number of myxomas considerably above the average for this disease. Eighty other cases of Mazabraud's syndrome have been reported. The condition predominantly affects middle-aged women (mean age, 44 years). The bone lesions may be monostotic or polyostotic. Mazabraud's syndrome may be difficult to distinguish from soft-tissue sarcoma or neurofibromatosis. Identification of the underlying genetic abnormality provides diagnostic confirmation, as shown in our patient. The management consists in surgery to remove the myxomas and magnetic resonance imaging at regular intervals to monitor the lesions.

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Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

Cited by 56 publications

References 22 publications

Fibro-osseous lesions of the head and neck

Fibro-osseous lesions of the head and neck

Molecular pathology of sarcomas: concepts and clinical implications

Mazabraud's syndrome. A case with multiple myxomas

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