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

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Pansuriya, Twinkal C van Eijk, Ronald d'Adamo, Pio van Ruler, Maayke A J H Kuijjer, Marieke L Limaye, Nisha [UCL] Godfraind, Catherine [UCL] Boon, Laurence M. [UCL] Vikkula, Miikka [UCL] Bovée, Judith V M G

Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2011
Language Anglais
Journal information "Nature Genetics" - Vol. 43, no. 12, p. 1256-61 (2011)
Peer reviewed yes
Publisher Nature Publishing Group ((United States) New York)
issn 1061-4036
e-issn 1546-1718
Publication status Publié
Affiliations UCL - SSS/DDUV - Institut de Duve
UCL - (SLuc) Service d'anatomie pathologique
UCL - (SLuc) Service de chirurgie plastique
UCL - (SLuc) Centre de génétique médicale UCL
MESH Subject Adult ; Humans ; Isocitrate Dehydrogenase ; Male ; Middle Aged ; Mosaicism ; Mutation, Missense ; Sequence Analysis, DNA ; Transcription, Genetic ; Young Adult ; Case-Control Studies ; Cell Line, Tumor ; DNA Methylation ; Enchondromatosis ; Female ; Gene Expression Profiling ; Gene Expression Regulation ; Genome-Wide Association Study
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Bibliographic reference Pansuriya, Twinkal C ; van Eijk, Ronald ; d'Adamo, Pio ; van Ruler, Maayke A J H ; Kuijjer, Marieke L ; et. al. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. In: Nature Genetics, Vol. 43, no. 12, p. 1256-61 (2011)
Permanent URL http://hdl.handle.net/2078.1/120170