Molecular pathology and its diagnostic use in bone tumors

Abstract

Bone tumors are considered by most pathologists difficult to diagnose as they are rare, have overlapping morphology, need radiological correlation, and the usefulness of immunohistochemistry is limited, making conventional morphology the cornerstone of the diagnosis. Over the past decade, more and more has become known of the molecular background of bone tumors. Three groups of bone tumors are recognized, namely, tumors with specific translocations combined with a relatively simple karyotype involving chromosomal translocations (Ewing sarcoma, aneurysmal bone cyst), tumors with specific gene mutations or amplifications (chondrosarcoma, fibrous dysplasia, chordoma), and sarcomas with genetic instability and as a consequence complex karyotypes (osteosarcoma). Technical advancements will rapidly reveal new alterations in the more rare sarcoma subtypes for which the molecular background has remained enigmatic. Opening the archives and using new technologies, as well as refinement of existing technologies for decalcified paraffin-embedded tissue, may bring to light more specific genetic aberrations in bone tumors that can be applied in molecular diagnostics in the near future.