Title
Somatic mosaic **IDH1** and **IDH2** mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndromeSomatic mosaic **IDH1** and **IDH2** mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
Author
Faculty/Department
University Hospital Antwerp
Research group
UZA
Publication type
article
Publication
New York, N.Y.,
Subject
Human medicine
Source (journal)
Nature genetics. - New York, N.Y.
Volume/pages
43(2011):12, p. 1256-1261
ISSN
1061-4036
ISI
000297931400023
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
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