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Benefits of molecular pathology in the diagnosis of musculoskeletal disease

Part II of a two-part review: bone tumors and metabolic disorders

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Abstract

The second part of this review, on the benefits of molecular pathology in the diagnosis disease, focuses on the genetics of bone tumors and metabolic disease. Unlike soft tissue tumors, the number of currently exploitable molecular abnormalities for diagnosing bone neoplasms is small, although the same gene rearrangements are found in primitive neuroectodermal tumor/Ewing sarcoma in both skeletal and extraskeletal sites. Compared with soft tissue tumors, genetic abnormalities, which are valuable to diagnosticians in skeletal disease, are often germline and post-zygotic aberrations rather than somatic translocations. In addition, the review highlights the range of disease entities classified as “osteoclast-rich lesions,” some of which harbor germline mutations. It also addresses the importance of phosphate metabolism in skeletal disorders including phosphaturic mesenchymal tumor, vitamin D-resistant rickets, and tumoral calcinosis.

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Acknowledgements

UCL is a partner of the EuroBoNeT consortium, a European Commission granted Network of Excellence for studying the pathology and genetics of bone tumors.

The research was generously funded by Skeletal Cancer Action Trust (SCAT), UK. The work was also supported by the UCLH/UCL Comprehensive Biomedical Research Centre.

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Authors and Affiliations

  1. Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK

    Adrienne M. Flanagan & David Delaney

  2. Paul O’Gorman Cancer Institute, UCL, 72 Huntley Street, London, WC1E 6BT, UK

    Adrienne M. Flanagan

  3. Institute of Orthopaedics and Musculoskeletal Science, UCL, Stanmore, Middlesex, HA7 4LP, UK

    Adrienne M. Flanagan & Paul O’Donnell

  4. Department of Histopathology, UCLH NHS Trust, Rockefeller Building, University Street, London, WC1E 6JJ, UK

    Adrienne M. Flanagan

  5. Department of Radiology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK

    Paul O’Donnell

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  1. Adrienne M. Flanagan
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Correspondence to Adrienne M. Flanagan.

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Flanagan, A.M., Delaney, D. & O’Donnell, P. Benefits of molecular pathology in the diagnosis of musculoskeletal disease. Skeletal Radiol 39, 213–224 (2010). https://doi.org/10.1007/s00256-009-0758-y

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