An update of diagnostic strategies using molecular genetic and magnetic resonance imaging techniques for musculoskeletal tumors

Rheumatologists may be incidentally confronted by bone and soft tissue lesions presenting in and around joints that require early recognition and appropriate referral. The diagnostic and therapeutic management of patients with musculoskeletal tumors is critically dependent on a multidisciplinary approach. Advances, particularly in the fields of histopathology, molecular (cyto)genetics and radiologic imaging techniques, have resulted in significant improvements in reaching a correct (differential) diagnosis, essential for implementing optimal treatment modalities. Magnetic resonance imaging is becoming increasingly important in planning preoperative and postoperative management strategies, and should precede all invasive procedures. Improvements in the fields of immunohistochemistry, together with the realization that certain tumor groups may be associated with specific genetic alterations, has significantly improved diagnostic accuracy. Additionally, the presence of certain genetic alterations within the tumoral genome have been found to be of prognostic value, and the hereditary context recognized for a number of specific bone and soft tissue tumors should be taken into account in the management of a patient with such a neoplasm. It is envisaged that an increasing understanding of the molecular biology and histogenesis of individual musculoskeletal tumor types will lead to tailor-made therapeutic options and consequently prognostic improvements. This update serves to highlight some important recent developments in fundamental and diagnostic aspects of musculoskeletal tumors.