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

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Abstract

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.

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Authors and Affiliations

  1. Department of Radiology, The Royal National Orthopaedic Hospital, Stanmore, HA7 4LP, UK

    Michele Calleja & Paul O’Donnell

  2. Department of Histopathology, The Royal National Orthopaedic Hospital, Stanmore, UK

    Fernanda Amary

  3. Cancer Institute, University College London, London, UK

    Fernanda Amary

  4. Institute of Orthopaedics and Musculoskeletal Science, University College London, London, UK

    Paul O’Donnell

Authors
  1. Michele Calleja
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  2. Fernanda Amary
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  3. Paul O’Donnell
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Correspondence to Michele Calleja.

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Calleja, M., Amary, F. & O’Donnell, P. Mutational analysis of high-grade spindle cell sarcoma of the femur in Mazabraud’s syndrome. Skeletal Radiol 48, 151–157 (2019). https://doi.org/10.1007/s00256-018-2975-8

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  • DOI: https://doi.org/10.1007/s00256-018-2975-8

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