Skeletal Radiology

, Volume 48, Issue 1, pp 151–157 | Cite as

Mutational analysis of high-grade spindle cell sarcoma of the femur in Mazabraud’s syndrome

  • Michele CallejaEmail author
  • Fernanda Amary
  • Paul O’Donnell
Case Report


Mazabraud’s syndrome is a rare disorder characterised by the association of fibrous dysplasia with intramuscular myxomas. We present a 36-year-old woman with right anterior knee pain and a buttock mass. Imaging showed aggressive bone destruction within an area of fibrous dysplasia in the right femur and a mass with myxoid signal characteristics in the right adductor region. Biopsy of the femur revealed both fibrous dysplasia and a high-grade spindle cell sarcoma. Biopsy of the adductor mass confirmed a soft-tissue myxoma. Molecular genetic analysis revealed an identical R201H substitution in the GNAS1 gene in the sarcoma, the myxoma, and also the conventional fibrous dysplasia.


Fibrous dysplasia Mazabraud’s syndrome Myxoma High-grade spindle cell sarcoma GNAS1 gene 


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Copyright information

© ISS 2018

Authors and Affiliations

  • Michele Calleja
    • 1
    Email author
  • Fernanda Amary
    • 2
    • 3
  • Paul O’Donnell
    • 1
    • 4
  1. 1.Department of RadiologyThe Royal National Orthopaedic HospitalStanmoreUK
  2. 2.Department of HistopathologyThe Royal National Orthopaedic HospitalStanmoreUK
  3. 3.Cancer InstituteUniversity College LondonLondonUK
  4. 4.Institute of Orthopaedics and Musculoskeletal ScienceUniversity College LondonLondonUK

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