Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma

Genes Chromosomes and Cancer

Volumn 35, Issue 4, 2002, Pages 340-352

  Panagopoulos, Ioannis ^a   Mertens, Fredrik ^a   Isaksson, Margareth ^a   Domanski, Henryk A ^a   Brosjö, Otte ^b   Heim, Sverre ^c   Bjerkehagen, Bodil ^c   Sciot, Raf ^d   Dal Cin, Paola ^e   Fletcher, Jonathan A ^e   Fletcher, Christopher D M ^e   Mandahl, Nils ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN CHN; PROTEIN RBP56; RNA BINDING PROTEIN EWS; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CHONDROSARCOMA; CHROMOSOME ABERRATION; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOGENETICS; DNA STRAND BREAKAGE; EXON; FEMALE; FUSION GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE REARRANGEMENT; GENE SEQUENCE; GENE TRANSLOCATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; INTRON; KARYOTYPE; MALE; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ADULT; AGED; BASE SEQUENCE; CHONDROSARCOMA; CHROMOSOME BREAKAGE; CLONING, MOLECULAR; CYTOGENETIC ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; ONCOGENE PROTEINS, FUSION; RECEPTORS, STEROID; RECEPTORS, THYROID HORMONE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEIN EWS; SOFT TISSUE NEOPLASMS; TATA-BINDING PROTEIN ASSOCIATED FACTORS; TRANS-ACTIVATORS; TRANSLOCATION, GENETIC;

EID: 18644380168     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/gcc.10127     Document Type: Article

References (63)

1. Antonescu CR, Argani P, Erlandson RA, Healey M, Ladanyi M, Huvos AG. 1998. Skeletal and extraskeletal myxoid chondrosarcoma. Cancer 83:1504-1521.
2. Aoki K, Suzuki K, Sugano T, Tasaka T, Nakahara K, Kuge O, Omori A, Kasai M. 1995. A novel gene, Translin, encodes a recombination hotspot binding protein associated with chromosomal translocations. Nat Genet 10:167-174.
3. Attwooll C, Tariq M, Harris M, Coyne JD, Telford N, Varley JM. 1999. Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma. Oncogene 18:7599-7601.
4. Bae YS, Kawasaki I, Ikeda H, Liu LF. 1988. Illegitimate recombination mediated by calf thymus DNA topoisomerase II in vitro. Proc Natl Acad Sci USA 85:2076-2080.
5. Bertolotti A, Lutz Y, Heard DJ, Chambon P, Tora L. 1996. hTAFII68, a novel RNA/ssDNA-binding protein with homology to the pro-oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II. EMBO J 15:5022-5031.
6. Bertolotti A, Melot T, Acker J, Vigneron M, Delattre O, Tora L. 1998. EWS, but not EWS-FLI-1, is associated with both TFIID and RNA polymerase II: interactions between two members of the TET family, EWS and hTAFII68, and subunits of TFIID and RNA polymerase II complexes. Mol Cell Biol 18:1489-1497.
7. Bertolotti A, Bell B, Tora L. 1999. The N-terminal domain of human TAFII68 displays transactivation and oncogenic properties. Oncogene 18:8000-8010.
8. Bjerkehagen B, Dietrich C, Reed W, Micci F, Saeter G, Aasmund B, Nesland JM, Heim S. 1999. Extraskeletal myxoid chondrosarcoma: multimodal diagnosis and identification of a new cytogenetic subgroup characterized by t(9;17)(q22;q11). Virchows Arch 435:524-530.
9. Brody RI, Ueda T, Hamelin A, Jhanwar SC, Bridge JA, Healey JH, Huvos AG, Gerald WL, Ladanyi M. 1997. Molecular analysis of the fusion of EWS to an orphan nuclear receptor gene in extraskeletal myxoid chondrosarcoma. Am J Pathol 150:1049-1058.
10. Clark J, Benjamin H, Gill S, Sidhar S, Goodwin G, Crew J, Gusterson BA, Shipley J, Cooper CS. 1996. Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. Oncogene 12:229-235.
11. Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G, Aurias A, Thomas G. 1992. Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature 359:162-165.
12. Domer PH, Head DR, Renganathan N, Raimondi SC, Yang E, Atlas M. 1995. Molecular analysis of 13 cases of MLL/11q23 secondary acute leukemia and identification of topoisomerase II consensus-binding sequences near the chromosomal breakpoint of a secondary leukemia with the t(4;11). Leukemia 9:1305-1312.
13. Elizalde JM, Ereno C, Florencio MR, Eizaguirre B, López J. 1993. Extraskeletal myxoid chondrosarcoma. A clinicopathologic and immunohistochemical study of two cases. Tumori 79:283-285.
14. Enzinger FM, Shiraki M. 1972. Extraskeletal myxoid chondrosarcoma. Hum Pathol 3:421-435.
15. Enzinger FM, Weiss SW. 1995. Soft Tissue Tumors. St. Louis: Mosby.
16. Felix CA, Lange BJ, Hosler MR, Fertala J, Bjornsti MA. 1995. Chromosome band 11q23 translocation breakpoints are DNA topoisomerase II cleavage sites. Cancer Res 55:4287-4292.
17. Gillett E, Leis T, Repp R, Reichel M, Hosch A, Breitenlohner I, Angermuller S, Borkhardt A, Harbott J, Lampert F, Griesinger F, Greil J, Fey GH, Marschalek R. 1999. A DNA damage repair mechanism is involved in the origin of chromosomal translocations t(4;11) in primary leukemic cells. Oncogene 18:4663-4671.
18. ISCN. 1995. An International System for Human Cytogenetic Nomenclature. Mitelman F, editor. Basel: S. Karger.
19. Jeffs AR, Benjes SM, Smith TL, Sowerby SJ, Morris CM. 1998. The BCR gene recombines preferentially with Alu elemepts in complex BCR-ABL translocations of chronic myeloid leukaemia. Hum Mol Genet 7:767-776.
20. Kanoe H, Nakayama T, Hosaka T, Murakami H, Yamamoto H, Nakashima Y, Tsuboyama T, Nakamura T, Ron D, Sasaki MS, Toguchida J. 1999. Characteristics of genomic breakpoints in TLS-CHOP translocations in liposarcomas suggest the involvement of Translin and topoisomerase II in the process of translocation. Oncogene 18:721-729.
21. Kilpatrick SE, Inwards CY, Fletcher CD, Smith MA, Gitelis S. 1997. Myxoid chondrosarcoma (chordoid sarcoma) of bone: A report of two cases and review of the literature. Cancer 79:1903-1910.
22. Kim J, Pelletier J. 1999. Molecular genetics of chromosome translocations involving EWS and related family members. Physiol Genomics 1:127-138.
23. Klijanienko J, Micheau C, Cote R, Flamant F, Caillaud JM. 1990. Unusual extraskeletal myxoid chondrosarcoma in a child. Histopathology 16:196-198.
24. Klugbauer S, Pfeiffer P, Gassenhuber H, Beimfohr C, Rabes HM. 2001. RET rearrangements in radiation-induced papillary thyroid carcinomas: High prevalence of topoisomerase I sites at breakpoints and microhomology-mediated end joining in ELE1 and RET chimeric genes. Genomics 73:149-160.
25. Konopka AK. 1988. Compilation of DNA strand exchange sites for non-homologous recombination in somatic cells. Nucleic Acids Res 16:1739-1758.
26. Krowczynska AM, Rudders RA, Krontiris TG. 1990. The human minisatellite consensus at breakpoints of oncogene translocations. Nucleic Acids Res 18:1121-1127.
27. Labelle Y, Zucman J, Stenman G, Kindblom L-G, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M, Aurias A, Delattre O, Thomas G. 1995. Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. Hum Mol Genet 4:2219-2226.
28. Ladanyi M, Gerald W. 1994. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. Cancer Res 54:2837-2840.
29. Liu J, Nau MM, Yeh JC, Allegra CJ, Chu E, Wright JJ. 2000. Molecular heterogeneity and function of EWS-WT1 fusion transcripts in desmoplastic small round cell tumors. Clin Cancer Res 6:3522-3529.
30. Liu-Shindo M, Rice DH, Sherrod AE. 1989. Extraskeletal myxoid chondrosarcoma of the head and neck: A case report. Otolaryngology 101:485-488.
31. Mandahl N, Heim S, Arheden K, Rydholm A, Willén H, Mitelman F. 1988. Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas. Hum Genet 79:203-208.
32. Mark-Vendel E, Terrier P, Turc-Carel C. 1991. Rearrangement of 9q22: a crucial event in extraskeletal myxoid chondrosarcoma. Cancer Genet Cytogenet 52:267.
33. Mastrangelo T, Modena P, Tornielli S, Bullrich F, Testi MA, Mezzelani A, Radice P, Azzarelli A, Pilotti S, Croce CM, Pierotti MA, Sozzi G. 2000. A novel zinc finger gene is fused to EWS in small round cell tumor. Oncogene 19:3799-3804.
34. McGrory JE, Rock MG, Nascimento AG, Oliveira AM. 2001. Extraskeletal myxoid chondrosarcoma. Clin Orthop 382:185-190.
35. Meis-Kindblom JM, Bergh P, Gunterberg B, Kindblom LG. 1999. Extraskeletal myxoid chondrosarcoma: A reappraisal of its morphologic spectrum and prognostic factors based on 117 cases. Am J Surg Pathol 23:636-650.
36. Mitelman F, Johansson B, Mertens F, editors. 2001. Mitelman Database of Chromosome Aberrations in Cancer. May be accessed at http://cgap.nci.nih.gov/Chromosmes/Mitelman.
37. Morohoshi F, Arai K, Takahashi E-I, Tanigami A, Uhki M. 1996. Cloning and mapping of a human RBP56 gene encoding a putative RNA binding protein similar to FUS/TLS and EWS proteins. Genomics 38:51-57.
38. Murru S, Casula L, Pecorara M, Mori P, Cao A, Pirastu M. 1990. Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A. Genomics 7:115-118.
39. Ohkura N, Hijikuro M, Yamamoto, Miki K. 1994. Molecular cloning of a novel thyroid/steroid receptor superfamily gene from cultured rat neuronal cells. Biochem Biophys Res Commun 205:1959-1965.
40. Ohkura N, Hijikuro M, Miki K. 1996a. Antisense oligonucleotide to NOR-1, a novel orphan nuclear receptor, induces migration and neurite extension of cultured forebrain cells. Brain Res Mol Brain Res 35:309-313.
41. Ohkura N, Ito M, Tsukada T, Sasaki K, Yamaguchi K, Miki K. 1996b. Structure, mapping and expression of a human NOR-1 gene, the third member of the Nur77/NGFI-B family. Biochim Biophys Acta 1308:205-214.
42. Ohkura N, Ito M, Tsukada T, Sasaki K, Yamaguchi K, Miki K. 1998. Alternative splicing generates isoforms of human neuron-derived orphan receptor-1 (NOR-1) mRNA. Gene 211:79-85.
43. Okamoto S, Hisaoka M, Ishida T, Imamura T, Kanda H, Shimajiri S, Hashimoto H. 2001. Extraskeletal myxoid chondrosarcoma: A clinicopathologic, immunohistochemical, and molecular analysis of 18 cases. Hum Pathol 32:1116-1124.
44. Orndal C, Carlén B, Åkerman M, Willén H, Mandahl N, Heim S, Rydholm A, Mitelman F. 1991. Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry. Cytopathology 2:261-270.
45. Panagopoulos I, Höglund M, Mertens F, Mandahl N, Mitelman F, Aman P. 1996. Fusion of the EWS and CHOP genes in myxoid liposarcoma. Oncogene 12:489-494.
46. Panagopoulos I, Mencinger M, Dietrich CU, Bjerkehagen B, Saeter G, Mertens F, Mandahl N, Heim S. 1999. Fusion of the RBP86 and CHN genes in extraskeletal myxoid chondrosarcoma with translocation t(9;17)(q22;q11). Oncogene 18:7594-7598.
47. Panagopoulos I, Mertens F, Debiec-Rychter M, Isaksson M, Limon J, Kardas I, Domanski H, Sciot R, Perek D, Crnalic SD, Larsson O, Mandahl N. 2002. Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses. Int J Cancer 99:560-567.
48. Petropoulos I, Part D, Ochoa A, Zakin MM, Lamas E. 1995. NOR-2 (neuron-derived orphan receptor), a brain zinc finger protein, is highly induced during liver regeneration. FEBS Lett 372:273-278.
49. Pfeiffer P, Goedecke W, Obe G. 2000. Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations. Mutagenesis 15:289-302.
50. Rao VN, Ohno T, Prasad DD, Bhattacharya G, Reddy ES. 1993. Analysis of the DNA-binding and transcriptional activation functions of human Fli-1 protein. Oncogene 8:2167-2173.
51. Reichel M, Gillert E, Nilson I, Siegler G, Greil J, Fey GH, Marschalek R. 1998. Fine structure of translocation breakpoints in leukemic blasts with chromosomal translocation t(4;11): The DNA damage-repair model of translocation. Oncogene 17:3035-3044.
52. Saleh G, Evans HL, Ro JY, Ayala AG. 1992. Extraskeletal myxoid chondrosarcoma. A clinicopathologic study of ten patients with long-term follow-up. Cancer 70:2827-2830.
53. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
54. Sandberg AA, Bridge JA. 2000. Updates on cytogenetics and molecular genetics of bone and soft tissue tumors: Ewing sarcoma and peripheral primitive neuroectodermal tumors. Cancer Genet Cytogenet 123:1-26.
55. Sciot R, Dal Cin P, Fletcher C, Samson I, Smith M, De Vos R, Van Damme B, Van den Berghe H. 1995. t(9;22)(q22-31;q11-12) is a consistent marker of extraskeletal myxoid chondrosarcoma: Evaluation of three cases. Mod Pathol 8:765-768.
56. Sjögren H, Meis-Kindblom J, Kindblom LG, Aman P, Stenman G. 1999. Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. Cancer Res 59:5064-5067.
57. 2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21). Cancer Res 60:6832-6835.
58. Steffen CM, Kennedy PJ, Page J, Dan N. 1992. An extraskeletal chondrosarcoma arising in the brachial plexus. J Surg Oncol 50: 58-61.
59. Stenman G, Andersson H, Mandahl N, Meis-Kindblom JM, Kindblom L-G. 1995. Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma. Int J Cancer 62:398-402.
60. Stout AP, Verner EW. 1953. Chondrosarcoma of the extraskeletal soft tissues. Cancer 6:581-590.
61. Wiemels J, Alexander F, Cazzaniga G, Biondi A, Mayer S, Greaves M. 2000. Microclustering of TEL-AML1 translocation breakpoints in childhood acute lymphoblastic leukemia. Genes Chromosomes Cancer 29:219-228.
62. Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletcher CD, Aurias A, Thomas G. 1993. EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. Nat Genet 4:341-345.
63. Zucman-Rossi J, Legoix P, Victor JM, Lopez B, Thomas G. 1998. Chromosome translocation based on illegitimate recombination in human tumors. Proc Natl Acad Sci USA 95:11786-11791.