Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

Author:

Pansuriya Twinkal C,van Eijk Ronald,d'Adamo Pio,van Ruler Maayke A J H,Kuijjer Marieke L,Oosting Jan,Cleton-Jansen Anne-Marie,van Oosterwijk Jolieke G,Verbeke Sofie L J,Meijer Daniëlle,van Wezel Tom,Nord Karolin H,Sangiorgi Luca,Toker Berkin,Liegl-Atzwanger Bernadette,San-Julian Mikel,Sciot Raf,Limaye Nisha,Kindblom Lars-Gunnar,Daugaard Soeren,Godfraind Catherine,Boon Laurence M,Vikkula Miikka,Kurek Kyle C,Szuhai Karoly,French Pim J,Bovée Judith V M G

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference64 articles.

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2. Lucas, D.R. & Bridge, J.A. Chondromas: enchondroma, periosteal chondroma, and enchondromatosis. In World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone (eds. Fletcher, C.D.M., Unni, K.K. & Mertens, F.) 237–240 (IARC Press, Lyon, France, 2002).

3. Pansuriya, T.C., Kroon, H.M. & Bovee, J.V.M.G. Enchondromatosis: insights on the different subtypes. Int. J. Clin. Exp. Pathol. 3, 557–569 (2010).

4. Verdegaal, S.H.M. et al. Incidence, predictive factors and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. Oncologist (in the press).

5. Hopyan, S. et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat. Genet. 30, 306–310 (2002).

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