Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
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DOI：
10.1038/ng.1004
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发表时间：
2011-11-06
期刊：
影响因子：
30.8
通讯作者：
Bovee, Judith V. M. G.
中科院分区：
文献类型：
--
作者：
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.
Ollier病和Maffucci综合征是以多发性内生软骨瘤（Ollier病）合并梭形细胞血管瘤（Maffucci综合征）为特征的非遗传性骨骼疾病。我们报告了87%的内生软骨瘤（良性软骨肿瘤）和70%的梭形细胞血管瘤（良性血管病变）的体细胞杂合IDH1（R132C和R132H）或IDH2（R172S）突变。总体而言，43例Ollier病患者中的35例（81%）和13例Maffucci综合征患者中的10例（77%）在其肿瘤中携带IDH1（98%）或IDH2（2%）突变。16例患者中有14例在不同的病变中显示出相同的突变。免疫组织化学的突变R132H IDH1蛋白质提示肿瘤内和体细胞嵌合。软骨肿瘤中的IDH1突变与几种基因的高甲基化和表达下调有关。在40%的孤立性中央软骨肿瘤和四种软骨肉瘤细胞系中也发现了突变，使功能研究能够评估IDH1和IDH2突变在肿瘤形成中的作用。
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.
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影响因子：
12.7
作者：
Hartmann, Christian;Meyer, Jochen;von Deimling, Andreas
通讯作者：
von Deimling, Andreas
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
50.3
作者：
Figueroa ME;Abdel-Wahab O;Lu C;Ward PS;Patel J;Shih A;Li Y;Bhagwat N;Vasanthakumar A;Fernandez HF;Tallman MS;Sun Z;Wolniak K;Peeters JK;Liu W;Choe SE;Fantin VR;Paietta E;Löwenberg B;Licht JD;Godley LA;Delwel R;Valk PJ;Thompson CB;Levine RL;Melnick A
通讯作者：
Melnick A
影响因子：
30.8
作者：
Briggs, Tracy A.;Rice, Gillian I.;Daly, Sarah;Urquhart, Jill;Gornall, Hannah;Bader-Meunier, Brigitte;Baskar, Kannan;Baskar, Shankar;Baudouin, Veronique;Beresford, Michael W.;Black, Graeme C. M.;Dearman, Rebecca J.;de Zegher, Francis;Foster, Emily S.;Frances, Camille;Hayman, Alison R.;Hilton, Emma;Job-Deslandre, Chantal;Kulkarni, Muralidhar L.;Le Merrer, Martine;Linglart, Agnes;Lovell, Simon C.;Maurer, Kathrin;Musset, Lucile;Navarro, Vincent;Picard, Capucine;Puel, Anne;Rieux-Laucat, Frederic;Roifman, Chaim M.;Scholl-Buergi, Sabine;Smith, Nigel;Szynkiewicz, Marcin;Wiedeman, Alice;Wouters, Carine;Zeef, Leo A. H.;Casanova, Jean-Laurent;Elkon, Keith B.;Janckila, Anthony;Lebon, Pierre;Crow, Yanick J.
通讯作者：
Crow, Yanick J.
DOI：
10.1073/pnas.0910875107
发表时间：
2010-02-02
影响因子：
11.1
作者：
Jones, Kevin B.;Piombo, Virginia;Sheffield, Val C.
通讯作者：
Sheffield, Val C.