{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:05:24Z","timestamp":1792782324251,"version":"4.5.0"},"reference-count":53,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,5,19]],"date-time":"2011-05-19T00:00:00Z","timestamp":1305763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Skeletal Cancer Action Trust (SCAT) UK"}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Somatic mutations in isocitrate dehydrogenase 1 (\n                    <jats:italic>IDH1<\/jats:italic>\n                    ) and\n                    <jats:italic>IDH2<\/jats:italic>\n                    occur in gliomas and acute myeloid leukaemia (AML). Since patients with multiple enchondromas have occasionally been reported to have these conditions, we hypothesized that the same mutations would occur in cartilaginous neoplasms. Approximately 1200 mesenchymal tumours, including 220 cartilaginous tumours, 222 osteosarcomas and another \u223c750 bone and soft tissue tumours, were screened for\n                    <jats:italic>IDH1<\/jats:italic>\n                    R132 mutations, using Sequenom\n                    <jats:sup>\u00ae<\/jats:sup>\n                    mass spectrometry. Cartilaginous tumours and chondroblastic osteosarcomas, wild\u2010type for\n                    <jats:italic>IDH1<\/jats:italic>\n                    R132, were analysed for\n                    <jats:italic>IDH2<\/jats:italic>\n                    (R172, R140) mutations. Validation was performed by capillary sequencing and restriction enzyme digestion. Heterozygous somatic\n                    <jats:italic>IDH1\/IDH2<\/jats:italic>\n                    mutations, which result in the production of a potential oncometabolite, 2\u2010hydroxyglutarate, were only detected in central and periosteal cartilaginous tumours, and were found in at least 56% of these, \u223c40% of which were represented by R132C.\n                    <jats:italic>IDH1<\/jats:italic>\n                    R132H mutations were confirmed by immunoreactivity for this mutant allele. The ratio of\n                    <jats:italic>IDH1:IDH2<\/jats:italic>\n                    mutation was 10.6 : 1. No\n                    <jats:italic>IDH2<\/jats:italic>\n                    R140 mutations were detected. Mutations were detected in enchondromas through to conventional central and dedifferentiated chondrosarcomas, in patients with both solitary and multiple neoplasms. No germline mutations were detected. No mutations were detected in peripheral chondrosarcomas and osteochondromas. In conclusion,\n                    <jats:italic>IDH1<\/jats:italic>\n                    and\n                    <jats:italic>IDH2<\/jats:italic>\n                    mutations represent the first common genetic abnormalities to be identified in conventional central and periosteal cartilaginous tumours. As in gliomas and AML, the mutations appear to occur early in tumourigenesis. We speculate that a mosaic pattern of\n                    <jats:italic>IDH<\/jats:italic>\n                    \u2010mutation\u2010bearing cells explains the reports of diverse tumours (gliomas, AML, multiple cartilaginous neoplasms, haemangiomas) occurring in the same patient. Copyright \u00a9 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley &amp; Sons, Ltd.\n                  <\/jats:p>","DOI":"10.1002\/path.2913","type":"journal-article","created":{"date-parts":[[2011,4,7]],"date-time":"2011-04-07T05:53:02Z","timestamp":1302155582000},"page":"334-343","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":966,"title":["<i>IDH1<\/i>\n                    and\n                    <i>IDH2<\/i>\n                    mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours"],"prefix":"10.1002","volume":"224","author":[{"given":"M 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