Benefits of molecular pathology in the diagnosis of musculoskeletal disease : Part II of a two-part review: bone tumors and metabolic disorders.

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.