Frequent IDH1 / 2 mutations in intracranial chondrosarcoma: a possible diagnostic clue for its differentiation from chordoma
作者： Motohiro Arai , Sumihito Nobusawa , Hayato Ikota , Sunao Takemura , Yoichi Nakazato
DOI: 10.1007/S10014-012-0085-1
关键词: Myeloid leukemia 、 Chordoma 、 Differential diagnosis 、 Pathology 、 Chondrosarcoma 、 Biology 、 Mutation 、 Isocitrate dehydrogenase 、 IDH1 、 IDH2
摘要: Mutations in the genes encoding isocitrate dehydrogenase (IDH) 1/2 have been detected a significant proportion of diffuse gliomas and small fraction acute myeloid leukemia (AML) cases. Recently, an examination various types mesenchymal tumor, IDH1/2 mutations were only found cartilaginous tumors including central conventional periosteal enchondromas/chondrosarcomas. The frequency was 56%, IDH1 R132C mutation, which is not common or AML, accounted for 40% these mutations. In this study, we investigated mutation status intracranial chondrosarcomas chordomas, are morphologically similar affect regions cranial cavity. Of 13 analyzed, six (46.1%) displayed (the predominant type R132C). Also, IDH2 (R172S) observed one case. Conversely, none ten chordomas analyzed any Our data suggest that could be valuable distinguishing from chordomas.
springer.com
sci-hub.se 参考文章(15)
David Capper, Susanne WeiÃert, Jörg Balss, Antje Habel, Jochen Meyer, Diana Jäger, Ulrike Ackermann, Claudia Tessmer, Andrey Korshunov, Hanswalter Zentgraf, Christian Hartmann, Andreas Von Deimling, Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. Brain Pathology. ,vol. 20, pp. 245- 254 ,(2010) , 10.1111/J.1750-3639.2009.00352.X
Kaith Almefty, Svetlana Pravdenkova, Benedicto O. Colli, Ossama Al-Mefty, Murat Gokden, Chordoma and chondrosarcoma: Similar, but quite different, skull base tumors Cancer. ,vol. 110, pp. 2467- 2477 ,(2007) , 10.1002/CNCR.23073
Mika Kato Kaneko, Wei Tian, Shingo Takano, Hiroyuki Suzuki, Yoshihiko Sawa, Yasukazu Hozumi, Kaoru Goto, Kentaro Yamazaki, Chifumi Kitanaka, Yukinari Kato, Establishment of a novel monoclonal antibody SMab-1 specific for IDH1-R132S mutation Biochemical and Biophysical Research Communications. ,vol. 406, pp. 608- 613 ,(2011) , 10.1016/J.BBRC.2011.02.102
M Fernanda Amary, Krisztian Bacsi, Francesca Maggiani, Stephen Damato, Dina Halai, Fitim Berisha, Robin Pollock, Paul O'Donnell, Anita Grigoriadis, Tim Diss, Malihe Eskandarpour, Nadège Presneau, Pancras CW Hogendoorn, Andrew Futreal, Roberto Tirabosco, Adrienne M Flanagan, IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours The Journal of Pathology. ,vol. 224, pp. 334- 343 ,(2011) , 10.1002/PATH.2913
M. Necmettin Pamir, Koray Özduman, Analysis of radiological features relative to histopathology in 42 skull-base chordomas and chondrosarcomas. European Journal of Radiology. ,vol. 58, pp. 461- 470 ,(2006) , 10.1016/J.EJRAD.2006.03.020
Károly Szuhai, Ivy Jennes, Danielle de Jong, Judith V.M.G. Bovée, Malgorzata Wiweger, Wim Wuyts, Pancras C.W. Hogendoorn, Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Human Mutation. ,vol. 32, ,(2011) , 10.1002/HUMU.21423
Gerard J Oakley, Kim Fuhrer, Raja R Seethala, Brachyury, SOX-9, and podoplanin, new markers in the skull base chordoma vs chondrosarcoma differential: a tissue microarray-based comparative analysis. Modern Pathology. ,vol. 21, pp. 1461- 1469 ,(2008) , 10.1038/MODPATHOL.2008.144
Felicitas Thol, Frederik Damm, Katharina Wagner, Gudrun Göhring, Brigitte Schlegelberger, Dieter Hoelzer, Michael Lübbert, Wolfgang Heit, Lothar Kanz, Günter Schlimok, Aruna Raghavachar, Walter Fiedler, Hartmut Kirchner, Gerhard Heil, Michael Heuser, Jürgen Krauter, Arnold Ganser, Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia Blood. ,vol. 116, pp. 614- 616 ,(2010) , 10.1182/BLOOD-2010-03-272146
Hiroko Ohgaki, Paul Kleihues, Genetic profile of astrocytic and oligodendroglial gliomas Brain Tumor Pathology. ,vol. 28, pp. 177- 183 ,(2011) , 10.1007/S10014-011-0029-1
Maria E. Figueroa, Omar Abdel-Wahab, Chao Lu, Patrick S. Ward, Jay Patel, Alan Shih, Yushan Li, Neha Bhagwat, Aparna Vasanthakumar, Hugo F. Fernandez, Martin S. Tallman, Zhuoxin Sun, Kristy Wolniak, Justine K. Peeters, Wei Liu, Sung E. Choe, Valeria R. Fantin, Elisabeth Paietta, Bob Löwenberg, Jonathan D. Licht, Lucy A. Godley, Ruud Delwel, Peter J.M. Valk, Craig B. Thompson, Ross L. Levine, Ari Melnick, Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell. ,vol. 18, pp. 553- 567 ,(2010) , 10.1016/J.CCR.2010.11.015