Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2

@article{Amary2011OllierDA,
  title={Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2},
  author={M. F. Amary and S. Damato and D. Halai and M. Eskandarpour and Fitim Berisha and F. Bonar and S. McCarthy and V. Fantin and K. Straley and S. Lobo and W. Aston and C. Green and R. Gale and R. Tirabosco and A. Futreal and P. Campbell and N. Presneau and A. Flanagan},
  journal={Nature Genetics},
  year={2011},
  volume={43},
  pages={1262-1265}
}
Ollier disease and Maffucci syndrome are characterized by multiple central cartilaginous tumors that are accompanied by soft tissue hemangiomas in Maffucci syndrome. We show that in 37 of 40 individuals with these syndromes, at least one tumor has a mutation in isocitrate dehydrogenase 1 (IDH1) or in IDH2, 65% of which result in a R132C substitution in the protein. In 18 of 19 individuals with more than one tumor analyzed, all tumors from a given individual shared the same IDH1 mutation… Expand
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