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Somatic mosaic IDH1...
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. (author)
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van Eijk, Ronald (author)
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d'Adamo, Pio (author)
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van Ruler, Maayke A. J. H. (author)
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Kuijjer, Marieke L. (author)
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Oosting, Jan (author)
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Cleton-Jansen, Anne-Marie (author)
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van Oosterwijk, Jolieke G. (author)
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Verbeke, Sofie L. J. (author)
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Meijer, Danielle (author)
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van Wezel, Tom (author)
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- Hansén Nord, Karolin (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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Sangiorgi, Luca (author)
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Toker, Berkin (author)
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Liegl-Atzwanger, Bernadette (author)
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San-Julian, Mikel (author)
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Sciot, Raf (author)
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Limaye, Nisha (author)
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Kindblom, Lars-Gunnar (author)
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Daugaard, Soeren (author)
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Godfraind, Catherine (author)
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Boon, Laurence M. (author)
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Vikkula, Miikka (author)
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Kurek, Kyle C. (author)
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Szuhai, Karoly (author)
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French, Pim J. (author)
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Bovee, Judith V. M. G. (author)
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(creator_code:org_t)
- 2011-11-06
- 2011
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:12, s. 1256-1261
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- art (subject category)
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- By the author/editor
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Pansuriya, Twink ...
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van Eijk, Ronald
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d'Adamo, Pio
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van Ruler, Maayk ...
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Kuijjer, Marieke ...
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Oosting, Jan
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show more...
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Cleton-Jansen, A ...
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van Oosterwijk, ...
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Verbeke, Sofie L ...
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Meijer, Danielle
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van Wezel, Tom
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Hansén Nord, Kar ...
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Sangiorgi, Luca
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Toker, Berkin
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Liegl-Atzwanger, ...
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San-Julian, Mike ...
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Sciot, Raf
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Limaye, Nisha
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Kindblom, Lars-G ...
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Daugaard, Soeren
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Godfraind, Cathe ...
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Boon, Laurence M ...
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Vikkula, Miikka
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Kurek, Kyle C.
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Szuhai, Karoly
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French, Pim J.
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Bovee, Judith V. ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Genetics
- By the university
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Lund University