R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations

American Journal of Pathology

Volumn 182, Issue 5, 2013, Pages 1494-1500

  Kurek, Kyle C ^a   Pansuriya, Twinkal C ^b   Van Ruler, Maayke A J H ^b   Van Den Akker, Brendy ^b   Luks, Valerie L ^a   Verbeke, Sofie L J ^b   Kozakewich, Harry P ^a   Sciot, Raf ^c   Lev, Dina ^d   Lazar, Alexander J ^d   Fletcher, Christopher D M ^e   Bovée, Judith V M G ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXIA INDUCIBLE FACTOR 1ALPHA; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2;

ADOLESCENT; ADULT; AGED; ARTICLE; ASSAY; CARCINOGENESIS; CARDIOVASCULAR MALFORMATION; CHILD; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; ENCHONDROMATOSIS; EXON; FEMALE; HEMANGIOMA; HUMAN; HUMAN TISSUE; HYDROLYSIS; HYDROLYSIS PROBES ASSAY; IMMUNOHISTOCHEMISTRY; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SOMATIC MUTATION; SPINDLE CELL; SPINDLE CELL HEMANGIOMA; VASCULAR TUMOR;

ADOLESCENT; AMINO ACID SUBSTITUTION; CARCINOMA; CHILD; DEMOGRAPHY; FEMALE; HEMANGIOMA; HUMANS; IMMUNOHISTOCHEMISTRY; ISOCITRATE DEHYDROGENASE; MALE; MIDDLE AGED; MUTATION; VASCULAR MALFORMATIONS; YOUNG ADULT;

EID: 84876526224     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.1016/j.ajpath.2013.01.012     Document Type: Article

References (24)

1. H. Yan, D.W. Parsons, G. Jin, R. McLendon, B.A. Rasheed, W. Yuan, I. Kos, I. Batinic-Haberle, S. Jones, G.J. Riggins, H. Friedman, A. Friedman, D. Reardon, J. Herndon, K.W. Kinzler, V.E. Velculescu, B. Vogelstein, and D.D. Bigner IDH1 and IDH2 mutations in gliomas N Engl J Med 360 2009 765 773
2. F.G. Schaap, P.J. French, and J.V. Bovée Mutations in the isocitrate dehydrogenase genes IDH1 and IDH2 in tumors Adv Anat Pathol 20 2013 32 38
3. D. Rakheja, S. Konoplev, L.J. Medeiros, and W. Chen IDH mutations in acute myeloid leukemia Hum Pathol 43 2012 1541 1551
4. T. Pansuriya, H.M. Kroon, and J.V.M.G. Bovée Enchondromatosis: insights on the different subtypes Int J Clin Exp Pathol 3 2010 557 569
5. T.C. Pansuriya, R. van Eijk, P. d'Adamo, M.L. Kuijjer, M.A.J.H. van Ruler, J. Oosting, A.M. Cleton-Jansen, J.G. van Oosterwijk, S.L.J. Verbeke, D. Meijer, T. van Wezel, K.H. Nord, L. Sangiorgi, B. Toker, B. Liegl-Atzwanger, M. San-Julian, R. Sciot, N. Limaye, L.G. Kindblom, S. Daugaard, C. Godfraind, L.M. Boon, M. Vikkula, K.C. Kurek, K. Szuhai, P.J. French, and J.V.M.G. Bovée Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome Nat Genet 43 2011 1256 1261
6. M.F. Amary, S. Damato, D. Halai, M. Eskandarpour, F. Berisha, F. Bonar, S. McCarthy, V.R. Fantin, K.S. Straley, S. Lobo, W. Aston, C.L. Green, R.E. Gale, R. Tirabosco, A. Futreal, P. Campbell, N. Presneau, and A.M. Flanagan Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2 Nat Genet 43 2011 1262 1265
7. M.F. Amary, K. Bacsi, F. Maggiani, S. Damato, D. Halai, F. Berisha, R. Pollock, P. O'Donnell, A. Grigoriadis, T. Diss, M. Eskandarpour, N. Presneau, P.C. Hogendoorn, A. Futreal, R. Tirabosco, and A.M. Flanagan IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours J Pathol 224 2011 334 343
8. S. Turcan, D. Rohle, A. Goenka, L.A. Walsh, F. Fang, E. Yilmaz, C. Campos, A.W.M. Fabius, C. Lu, P.S. Ward, C.B. Thompson, A. Kaufman, O. Guryanova, R. Levine, A. Heguy, A. Viale, L.G.T. Morris, J.T. Huse, I.K. Mellinghoff, and T.A. Chan IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype Nature 483 2012 479 483
9. C. Lu, P.S. Ward, G.S. Kapoor, D. Rohle, S. Turcan, O. Abdel-Wahab, C.R. Edwards, R. Khanin, M.E. Figueroa, A. Melnick, K.E. Wellen, D.M. O'Rourke, S.L. Berger, T.A. Chan, R.L. Levine, I.K. Mellinghoff, and C.B. Thompson IDH mutation impairs histone demethylation and results in a block to cell differentiation Nature 483 2012 474 478
10. S. Zhao, Y. Lin, W. Xu, W. Jiang, Z. Zha, P. Wang, W. Yu, Z. Li, L. Gong, Y. Peng, J. Ding, Q. Lei, K.L. Guan, and Y. Xiong Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha Science 324 2009 261 265
11. S.W. Weiss, and F.M. Enzinger Spindle cell hemangioendothelioma. A low-grade angiosarcoma resembling a cavernous hemangioma and Kaposi's sarcoma Am J Surg Pathol 10 1986 521 530
12. C.D.M. Fletcher, A. Beham, and C. Schmid Spindle cell haemangioendothelioma: a clinicopathological and immunohistochemical study indicative of a non-neoplastic lesion Histopathology 18 1991 291 301
13. P. Perkins, and S.W. Weiss Spindle cell hemangioendothelioma. An analysis of 78 cases with reassessment of its pathogenesis and biologic behavior Am J Surg Pathol 20 1996 1196 1204
14. C.D.M. Fletcher The non-neoplastic nature of spindle cell hemangioendothelioma Am J Clin Pathol 98 1992 545 546
15. O.P. Sangueza Soft tissue tumours [Vascular tumours: spindle cell haemangioma]. Pathology and Genetics of Tumours of the Skin, ch 5. World Health Organization Classification of Tumors P.E. LeBoit, G. Burg, D. Weedon, A. Sarasin, 2005 IARC Press Lyon 238 239
16. R. Van Eijk, J. Licht, M. Schrumpf, M. Talebian Yazdi, D. Ruano, G.I. Forte, P.M. Nederlof, M. Veselic, K.F. Rabe, J.T. Annema, V. Smit, H. Morreau, and T. van Wezel Rapid KRAS, EGFR, BRAF and PIK3CA mutation analysis of fine needle aspirates from non-small-cell lung cancer using allele specific qPCR PLOS One 2011 8;6(3):e17791
17. S. Boeuf, J.V.M.G. Bovée, B. Lehner, P.C.W. Hogendoorn, and W. Richter Correlation of hypoxic signalling to histological grade and outcome in cartilage tumours Histopathology 56 2010 641 651
18. K.C. Kurek, V.L. Luks, U.M. Ayturk, A.I. Alomari, S.J. Fishman, S.A. Spencer, J.B. Mulliken, M.E. Bowen, G.L. Yamamoto, H.P. Kozakewich, and M.L. Warman Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome Am J Hum Genet 90 2012 1108 1115
19. I. Eerola, L.M. Boon, J.B. Mulliken, P.E. Burrows, A. Dompmartin, S. Watanabe, R. Vanwijck, and M. Vikkula Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations Am J Hum Genet 73 2003 1240 1249
20. X.P. Zhou, D.J. Marsh, H. Hampel, J.B. Mulliken, O. Gimm, and C. Eng Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis Hum Mol Genet 9 2000 765 768
21. M.J. Lindhurst, J.C. Sapp, J.K. Teer, J.J. Johnston, E.M. Finn, and K. Peters A mosaic activating mutation in AKT1 associated with the Proteus syndrome N Engl J Med 365 2011 611 619
22. M.E. Figueroa, O. Abdel-Wahab, C. Lu, P.S. Ward, J. Patel, A. Shih, Y. Li, N. Bhagwat, A. Vasanthakumar, H.F. Fernandez, M.S. Tallman, Z. Sun, K. Wolniak, J.K. Peeters, W. Liu, S.E. Choe, V.R. Fantin, E. Paietta, B. Löwenberg, J.D. Licht, L.A. Godley, R. Delwel, P.J. Valk, C.B. Thompson, R.L. Levine, and A. Melnick Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation Cancer Cell 18 2010 553 567
23. I.F. Robey, A.D. Lien, S.J. Welsh, B.K. Baggett, and R.J. Gillies Hypoxia-inducible factor-1alpha and the glycolytic phenotype in tumors Neoplasia 7 2005 324 330
24. P. Koivunen, S. Lee, C.G. Duncan, G. Lopez, G. Lu, S. Ramkissoon, J.A. Losman, P. Joensuu, U. Bergmann, S. Gross, J. Travins, S. Weiss, R. Looper, K.L. Ligon, R.G.W. Verhaak, H. Yan, and W.G. Kaelin Jr. Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation Nature 483 2012 484 488