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  • Title: Mutational analysis of high-grade spindle cell sarcoma of the femur in Mazabraud's syndrome.
    Author: Calleja M, Amary F, O'Donnell P.
    Journal: Skeletal Radiol; 2019 Jan; 48(1):151-157. PubMed ID: 29804209.
    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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