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Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
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 IDH1 (R132C and R132H) or IDH2 (R172S) mutations in 87% of enchondromas, benig...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427908/ https://www.ncbi.nlm.nih.gov/pubmed/22057234 http://dx.doi.org/10.1038/ng.1004 |
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author | Pansuriya, Twinkal C. van Eijk, Ronald Adamo, Pio d' 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. |
author_facet | Pansuriya, Twinkal C. van Eijk, Ronald Adamo, Pio d' 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. |
author_sort | Pansuriya, Twinkal C. |
collection | PubMed |
description | 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 IDH1 (R132C and R132H) or IDH2 (R172S) mutations in 87% of enchondromas, benign cartilage tumors, and in 70% of spindle cell hemangiomas, benign vascular lesions. In total, 35 of 43 (81%) patients with Ollier disease and 10 of 13 (77%) patients with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of sixteen patients displayed identical mutations in separate lesions. Immunohistochemistry for mutant R132H IDH1 protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors are associated with hypermethylation and downregulation of expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, enabling functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation. |
format | Online Article Text |
id | pubmed-3427908 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
record_format | MEDLINE/PubMed |
spelling | pubmed-34279082012-08-27 Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome Pansuriya, Twinkal C. van Eijk, Ronald Adamo, Pio d' 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. Nat Genet Article 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 IDH1 (R132C and R132H) or IDH2 (R172S) mutations in 87% of enchondromas, benign cartilage tumors, and in 70% of spindle cell hemangiomas, benign vascular lesions. In total, 35 of 43 (81%) patients with Ollier disease and 10 of 13 (77%) patients with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of sixteen patients displayed identical mutations in separate lesions. Immunohistochemistry for mutant R132H IDH1 protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors are associated with hypermethylation and downregulation of expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, enabling functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation. 2011-11-06 /pmc/articles/PMC3427908/ /pubmed/22057234 http://dx.doi.org/10.1038/ng.1004 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
spellingShingle | Article Pansuriya, Twinkal C. van Eijk, Ronald Adamo, Pio d' 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. Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome |
title | Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome |
title_full | Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome |
title_fullStr | Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome |
title_full_unstemmed | Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome |
title_short | Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome |
title_sort | somatic mosaic idh1 or idh2 mutations are associated with enchondroma and spindle cell hemangioma in ollier disease and maffucci syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427908/ https://www.ncbi.nlm.nih.gov/pubmed/22057234 http://dx.doi.org/10.1038/ng.1004 |
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