Mazabraud’s syndrome: Intramuscular myxoma associated with fibrous dysplasia

Kabukçuoğlu, Fevziye; Kabukçuoğlu, Yavuz; Yılmaz, Banu; Erdem, Yesim; Evren, İ̇smail

doi:10.1007/bf02893467

Cited by 35 publications

(40 citation statements)

References 12 publications

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“…It has been suggested they result from basic metabolic errors of their tissues of origin during the initial growth period. While sarcomatous transformation is uncommon in fibrous dysplasia alone, the risk if much greater in Mazabraud's syndrome [9]. Fig.…”

Section: Discussionmentioning

confidence: 99%

“…In particular, the intramuscular myxoid liposarcoma has a predominantly myxoid morphology and has a similar gross and histological appearance to IMM making definitive diagnosis extremely difficult. Differentiating between these two lesions has significant implications for planning treatment as IMM has a benign clinical course, without tendency to recur or metastasize [9]. There are several key features which help to distinguish IMM from myxoid lesions.…”

Section: Discussionmentioning

confidence: 99%

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Giant paravertebral myxoma

et al. 2010

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The study design includes case report and clinical discussion. The objective was to describe a rare case of a giant intramuscular myxoma (IMM) presenting as a mass in the paravertebral muscles. Myxoma is a rare benign soft tissue tumour of mesenchymal origin. Although intramuscular presentation is common, they are rare in the paravertebral muscles and are characteristically \5 cm in length. We report the clinical and imaging features in a 70-year-old woman presenting with back pain, asymmetry of the waist and a mass in right paravertebral region. This was originally misdiagnosed as a juxtafacet synovial cyst after CT-guided biopsy. The mass was excised en bloc and sent for histology. This revealed a low-grade myxoid neoplasm with features of an IMM. The patient went on to make a complete recovery. To our knowledge, this is only the fifth case of paravertebral IMM reported in the literature and at approximately 15 cm in length may be the largest encountered in clinical practice.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Giant paravertebral myxoma

et al. 2010

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“…[12][13][14] Fibrous dysplasia can also be associated with soft tissue myxomas in Mazabraud syndrome. [15][16][17] This particular disease presentation is explained by somatic mosaicism involving an activating mutation of a signal-transduction G-protein, occurring postzygotically 18,19 in pluripotent embryonic stem cells. 20 Monostotic fibrous dysplasia, polyostotic fibrous dysplasia, McCuneAlbright syndrome and soft tissue myxoma coexisting with fibrous dysplasia result from the somatic mutation of the same GNAS gene (guanine nucleotide-binding protein/a-subunit).…”

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confidence: 99%

Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions

et al. 2013

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nucleotide-binding protein/a-subunit) mutations that induce the activation of G-protein a-subunit participate in the pathogenesis of fibrous dysplasia. The aim of this study was to evaluate the sensitivity and specificity of GNAS mutations in fibrous dysplasia and other fibro-osseous lesions, to assess the value of investigating this mutation in the diagnosis of fibro-osseous lesions. We studied 91 cases of fibrous dysplasia. The quality and/or quantity of genomic DNA were suitable for molecular analysis for 51 cases of fibrous dysplasia. GNAS mutations were investigated by three techniques: high-resolution melting (exon 8), allele-specific PCR (exons 8 and 9) and/or direct DNA sequencing (exons 8 and 9). Fibrous dysplasia samples were classified blind to the GNAS mutation status into six histological subtypes as conventional, fibro-involutive, osteosclerosing, cementifying, osteocartilaginous and with prominent aneurysmal cystic changes. We also studied 14 cases of lowgrade osteosarcoma, 21 cases of ossifying fibroma, 3 cases of osteofibrous dysplasia, 1 case of osseous dysplasia of the jawbone and 1 post-traumatic lesion of the ribs. Twenty-three cases of fibrous dysplasia (45%) showed mutations of codon 201 (exon 8, p.R201H or p.R201C). No mutation was found on codon 227 (exon 9). GNAS mutations in conventional fibrous dysplasia were detected in the same proportion (47%) as in the other histological subtypes (47%, P ¼ 0.96), regardless of sex (P ¼ 0.44), age (P ¼ 0.90) and location (P ¼ 1). GNAS mutations were not detected in any other fibro-osseous lesions. The GNAS mutation was thus specific to fibrous dysplasia in the context of fibro-osseous lesions. The particular mosaicism of mutant and non-mutant cells within the lesion or the existence of other mutations not already described could explain the lack of GNAS mutation in cases of fibrous dysplasia. Investigating this mutation may constitute a valuable complementary diagnostic tool, despite its low sensitivity, particularly in unconventional morphologically different subtypes of fibrous dysplasia. Modern Pathology (2013) 26, 911-921;

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“…The latest number of cases of Mazabraud's syndrome in general, dated 2004, was reported to be 55 (Kabokcuoglu & Kabukcuoglu, 2005).…”

Section: Discussionmentioning

confidence: 98%