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Updated: May 22, 2026

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

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Mazabraud's syndrome. A case with multiple myxomas.

E Gaumétou¹, B Tomeno, P Anract

¹Department of Orthopaedic Surgery and Traumatology, Cochin Hospital, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France.

Orthopaedics & Traumatology, Surgery & Research : OTSR

|May 22, 2012

Summary

Mazabraud's syndrome, a rare condition combining intramuscular myxomas and fibrous dysplasia, requires careful diagnosis due to malignant transformation risks. This case highlights extensive surgical management and long-term monitoring for this complex bone and soft tissue disorder.

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Last Updated: May 22, 2026

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Published on: May 17, 2024

Area of Science:

Medical Genetics
Oncology
Orthopedics

Background:

Mazabraud's syndrome is a rare genetic disorder characterized by the coexistence of intramuscular myxomas and fibrous dysplasia of bone.
Early diagnosis is crucial due to the significant risk of malignant transformation in bone lesions.

Observation:

A unique case of Mazabraud's syndrome in a 56-year-old patient with over 15 intramuscular myxomas requiring extensive surgical intervention over a 14-year period.
The patient's myxomas were notably large, progressive, and numerous, exceeding the typical presentation reported in the literature.
Mazabraud's syndrome can present diagnostic challenges, often requiring differentiation from conditions like soft-tissue sarcoma or neurofibromatosis.

Findings:

Genetic abnormality identification offers definitive diagnostic confirmation for Mazabraud's syndrome.
The condition predominantly affects middle-aged women, with reported cases averaging 44 years of age.
Bone lesions can manifest as monostotic or polyostotic.

Implications:

This case underscores the importance of long-term surveillance and multidisciplinary management for patients with Mazabraud's syndrome.
Surgical resection of myxomas combined with regular magnetic resonance imaging (MRI) is the current standard of care.
Further research into the genetic underpinnings and optimal therapeutic strategies for Mazabraud's syndrome is warranted.