key papersKey paper
IDH1 and IDH2 mutations are frequent in central chondrosarcoma and central and periosteal chondromas
Mutations in IDH1 and IDH2, previously known from brain tumours and leukaemia, were found in more than half of central chondrosarcomas and their benign precursors, defining the molecular basis of most cartilage tumours.
Overview
Mutation analysis of over 1,200 mesenchymal tumours identifying IDH1 or IDH2 mutations in 56 percent of central and periosteal cartilaginous tumours, including 71 percent of Ollier disease and Maffucci syndrome cases, but not in peripheral chondrosarcoma, osteochondroma or other sarcomas.
Translational studyChanged practice
Authors
Amary MF, Bacsi K, Maggiani F, et al.
Published
The Journal of Pathology, 2011
Full text
Findings
- IDH1 or IDH2 mutations in 56 percent of central and periosteal cartilaginous tumours.
- Absent from peripheral chondrosarcoma and other mesenchymal tumours.
What it means
IDH mutation testing helps distinguish chondrosarcoma from chondroblastic osteosarcoma and other mimics, and IDH inhibitors are being tested in advanced chondrosarcoma.
Caveats
- Ivosidenib trials in chondrosarcoma have shown disease stabilisation rather than shrinkage so far.