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 Fernanda Amary and Stephen Damato and Dina Halai and Malihe Eskandarpour and Fitim Berisha and Fiona Bonar and Shane Mccarthy and Valeria R. Fantin and Kimberly S. Straley and Shalini C Lobo and Warren P. Aston and Claire L. Green and Rosemary E Gale and Roberto Tirabosco and Andrew Futreal and Peter Campbell and Nad{\`e}ge Presneau and Adrienne M 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… CONTINUE READING

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