Title: Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
Authors: 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, Danielle
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
Bovee, Judith V. M. G #
Issue Date: Dec-2011
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:43 issue:12 pages:1256-1261
Abstract: 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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Translational Cell & Tissue Research
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science