Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors

American Journal of Pathology

Volumn 181, Issue 3, 2012, Pages 1069-1077

  Gebre Medhin, Samuel ^a   Nord, Karolin H ^a   Möller, Emely ^a   Mandahl, Nils ^a   Magnusson, Linda ^a   Nilsson, Jenny ^a   Jo, Vickie Y ^b   Vult Von Steyern, Fredrik ^a   Brosjö, Otte ^c   Larsson, Olle ^c   Domanski, Henryk A ^a   Sciot, Raf ^d   Debiec Rychter, Maria ^d   Fletcher, Christopher D M ^b   Mertens, Fredrik ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PHD FINGER PROTEIN 1; POLYCOMB GROUP PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CHROMOSOME 6P; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE AMPLIFICATION; GENE LOCUS; GENE REARRANGEMENT; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; OSSIFYING FIBROMYXOID TUMOR; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SOFT TISSUE TUMOR;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; BONE NEOPLASMS; CELL SHAPE; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN; CYTOGENETIC ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FIBROMA, OSSIFYING; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; METAPHASE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PARAFFIN EMBEDDING; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECURRENCE; TRANSCRIPTION FACTORS;

EID: 84865268959     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.1016/j.ajpath.2012.05.030     Document Type: Article

References (26)

1. F.M. Enzinger, S.W. Weiss, C.Y. Liang Ossifying fibromyxoid tumor of soft parts: a clinicopathologic analysis of 59 cases Am J Surg Pathol 13 1989 817 827
2. C. Fisher, M. Hedges, S.W. Weiss Ossifying fibromyxoid tumor of soft parts with stromal cyst formation and ribosome-lamella complexes Ultrastruct Pathol 18 1994 593 600
3. A.L. Folpe, S.W. Weiss Ossifying fibromyxoid tumor of soft parts: a clinicopathologic study of 70 cases with emphasis on atypical and malignant variants Am J Surg Pathol 27 2003 421 431
4. S.E. Kilpatrick, W.G. Ward, M. Mozes, M. Miettinen, M. Fukunaga, C.D. Fletcher Atypical and malignant variants of ossifying fibromyxoid tumor: clinicopathologic analysis of six cases Am J Surg Pathol 19 1995 1039 1046
5. M. Miettinen, V. Finnell, J.F. Fetsch Ossifying fibromyxoid tumor of soft parts: a clinicopathologic and immunohistochemical study of 104 cases with long-term follow-up and a critical review of the literature Am J Surg Pathol 32 2008 996 1005
6. R.P. Graham, S. Dry, X. Li, S. Binder, A. Bahrami, S.C. Raimondi, A. Dogan, S. Chakraborty, J.J. Souchek, A.L. Folpe Ossifying fibromyxoid tumor of soft parts: a clinicopathologic, proteomic, and genomic study Am J Surg Pathol 35 2011 1615 1625
7. V. Sovani, G.V.N. Velagaleti, E. Filipowicz, Z. Gatalica, A.S. Knisely Ossifying fibromyxoid tumor of soft parts: report of a case with novel cytogenetic findings Cancer Genet Cytogenet 127 2001 1 6
8. J. Nishio, H. Iwasaki, Y. Ohjimi, M. Ishiguro, T. Isayama, M. Naito, H. Okabayashi, Y. Kaneko, M. Kikuchi Ossifying fibromyxoid tumor of soft parts: cytogenetic findings Cancer Genet Cytogenet 133 2002 124 128
9. H. Kawashima, A. Ogose, H. Umezu, T. Hotta, T. Tohyama, M. Tsuchiya, N. Endo Ossifying fibromyxoid tumor of soft parts with clonal chromosomal aberrations Cancer Genet Cytogenet 176 2007 156 160
10. F. Micci, I. Panagopoulos, B. Bjerkehagen, S. Heim Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma Cancer Res 66 2006 107 112
11. N. Mandahl, S. Heim, K. Arheden, A. Rydholm, H. Willn, F. Mitelman Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas Hum Genet 79 1988 203 208
12. L.G. Shaffer, M.L. Slovak, L.J. Campbell An International System for Human Cytogenetic Nomenclature (2009) Basel, Karger 2009
13. Y. Jin, E. Mller, K.H. Nord, N. Mandahl, F. Vult Von Steyern, H.A. Domanski, A. Mario-Enrquez, L. Magnusson, J. Nilsson, R. Sciot, C.D.M. Fletcher, M. Debiec-Rychter, F. Mertens Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes Genes Chromosomes Cancer 51 2012 510 520
14. J.I. Koontz, A.L. Soreng, M. Nucci, F.C. Kuo, P. Pauwels, H. van Den Berghe, P. Dal Cin, J.A. Fletcher, J. Sklar Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors Proc Natl Acad Sci U S A 98 2001 6348 6353
15. C.-H. Lee, W.-B. Ou, A. Mario-Enriquez, M. Zhu, M. Mayeda, Y. Wang, X. Guo, A.L. Brunner, F. Amant, C.A. French, R.B. West, J.N. McAlpine, C.B. Gilks, M.B. Yaffe, L.M. Prentice, A. McPherson, S.J.M. Jones, M.A. Marra, S.P. Shah, M. van de Rijn, D.G. Huntsman, P. Dal Cin, M. Debiec-Rychter, M.R. Nucci, J.A. Fletcher 14-3-3 Fusion oncogenes in high-grade endometrial stromal sarcoma Proc Natl Acad Sci U S A 109 2012 929 934
16. S. Chiang, R. Ali, N. Melnyk, J.N. McAlpine, D.G. Huntsman, C.B. Gilks, C.H. Lee, E. Oliva Frequency of known gene rearrangements in endometrial stromal tumors Am J Surg Pathol 35 2011 1364 1372
17. F. Mitelman, B. Johansson, F. Mertens The impact of translocations and gene fusions on cancer causation Nat Rev Cancer 7 2007 233 245
18. R. Cao, H. Wang, J. He, H. Erdiument-Bromage, P. Tempst, Y. Zhang Role of hPHF1 in H3K27 methylation and Hox gene silencing Mol Cell Biol 28 2008 1862 1872
19. K. Sarma, R. Margueron, A. Ivanov, V. Pirrotta, D. Reinberg Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo Mol Cell Biol 28 2008 2718 2731
20. R. Margueron, D. Reinberg The Polycomb complex PRC2 and its mark on life Nature 469 2011 343 349
21. H. Richly, L. Aloia, L. Di Croce Roles of the Polycomb group proteins in stem cells and cancer Cell Death Dis 2 2011 e204
22. Z. Hong, J. Jiang, L. Lan, S. Nakajima, S. Kanno, H. Koseki, A. Yasui A polycomb group protein, PHF1, is involved in the response to DNA double-strand breaks in human cell Nucleic Acids Res 36 2008 2939 2947
23. B.G. Wilson, C.W.M. Roberts SWI/SNF nucleosome remodellers and cancer Nat Rev Cancer 11 2011 481 492
24. C.W.M. Roberts, J.A. Biegel The role of SMARCB1/INI1 in development of rhabdoid tumor Cancer Biol Ther 8 2009 412 416
25. B.G. Wilson, X. Wang, X. Shen, E.S. McKenna, M.E. Lemieux, Y.J. Cho, E.C. Koellhoffer, S.L. Pomeroy, S.H. Orkin, C.W.M. Roberts Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation Cancer Cell 18 2010 316 328
26. L. Mattera, C. Courilleau, G. Legube, T. Ueda, R. Fukunaga, M. Chevillard-Briet, Y. Canitrot, F. Escaffit, T. Trouche The E1A-associated p400 protein modulates cell fate decisions by the regulation of ROS homeostasis PLoS Genet 6 2010 e1000983