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Examples include giant cell tumour of bone (<jats:italic>H3F3A<\/jats:italic> p.G34W), chondroblastoma (<jats:italic>H3F3B<\/jats:italic> p.K36M), mesenchymal chondrosarcoma (<jats:italic>HEY1\u2010NCOA2<\/jats:italic>), chondromyxoid fibroma (GRM1 rearrangements), aneurysmal bone cyst (<jats:italic>USP6<\/jats:italic> rearrangements), osteoblastoma\/osteoid osteoma (<jats:italic>FOS\/FOSB<\/jats:italic> rearrangements), and synovial chondromatosis (<jats:italic>FN1\u2010ACVR2A<\/jats:italic> and <jats:italic>ACVR2A\u2010FN1<\/jats:italic>). All such alterations are mutually exclusive. Many of these have been translated into clinical service using immunohistochemistry or FISH. 60% of central chondrosarcoma is characterised by either <jats:italic>isocitrate dehydrogenase<\/jats:italic> (<jats:italic>IDH<\/jats:italic>) <jats:italic>1<\/jats:italic> or <jats:italic>IDH2<\/jats:italic> mutations distinguishing them from other cartilaginous tumours. In contrast, recurrent alterations which are clinically helpful have not been found in high grade osteosarcoma. High throughput next generation sequencing has also proved valuable in identifying germ line alterations in a significant proportion of young patients with primary malignant bone tumors. These findings will play an increasing role in reaching a diagnosis and in patient management.<\/jats:p>","DOI":"10.1002\/gcc.22699","type":"journal-article","created":{"date-parts":[[2018,12,24]],"date-time":"2018-12-24T10:25:37Z","timestamp":1545647137000},"page":"88-99","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":87,"title":["An update of molecular pathology of bone tumors. 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