Enchondromas are benign cartilage tumors and precursors to malignant chondrosarcomas.
Somatic mutations in the isocitrate dehydrogenase genes (IDH1 and IDH2) are present in
the majority of these tumor types. How these mutations cause enchondromas is unclear.
Here, we identified the spectrum of IDH mutations in human enchondromas and
chondrosarcomas and studied their effects in mice. A broad range of mutations was
identified, including the previously unreported IDH1-R132Q mutation. These mutations …

Enchondromas are benign cartilage tumors and precursors tomalignant chondrosarcomas.
Somatic mutations in the isocitratedehydrogenase genes (IDH1 and IDH2) are present in the
majorityof these tumor types. How these mutations cause enchondromasis unclear. Here,
we identified the spectrum of IDH mutations inhuman enchondromas and chondrosarcomas
and studied theireffects in mice. A broad range of mutations was identified, includingthe
previously unreported IDH1-R132Q mutation. These mutationsharbored enzymatic activity to …