Fusion of the COL1A1 and USP6 genes in a benign bone tumor

Cancer Genetics and Cytogenetics

Volumn 180, Issue 1, 2008, Pages 70-73

  Panagopoulos, Ioannis ^a   Mertens, Fredrik ^a   Löfvenberg, Richard ^b   Mandahl, Nils ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b UMEÅ UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ANEURYSMAL BONE CYST; ARTICLE; BENIGN TUMOR; BONE TUMOR; CASE REPORT; CHROMOSOME 17P; CHROMOSOME REARRANGEMENT; COL1A1 GENE; GENE FUSION; GENE OVEREXPRESSION; GENE TRANSLOCATION; HISTOPATHOLOGIC SKIN REACTION; HUMAN; MALE; ONCOGENE; PRIORITY JOURNAL; USP6 GENE;

ADOLESCENT; BONE NEOPLASMS; CHROMOSOMES, HUMAN, PAIR 17; COLLAGEN TYPE I; GENE FUSION; HUMANS; MALE; NEOPLASM REGRESSION, SPONTANEOUS; PROTO-ONCOGENE PROTEINS; TIBIA; TRANSLOCATION, GENETIC; UBIQUITIN THIOLESTERASE;

ALIAS;

EID: 36549036209     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2007.09.017     Document Type: Article

References (19)

1. Rosenberg A.E., Nielsen G.P., and Fletcher J.A. Aneurysmal bone cyst. In: Fletcher C.D.M., Unni K.K., and Mertens F. (Eds). Pathology and genetics of tumours of soft tissue and bone. World Health Organization Classification of Tumours (2002), IARC Press, Lyon 338-339
2. Pfeifer F.M., Bridge J.A., Neff J.R., and Mouron B.J. Cytogenetic findings in aneurysmal bone cysts. Genes Chromosomes Cancer 3 (1991) 416-419
3. Panoutsakopoulos G., Pandis N., Kyriazoglou I., Gustafson P., Mertens F., and Mandahl N. Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts. Genes Chromosomes Cancer 26 (1999) 265-266
4. Dal Cin P., Kozakewich H.P., Goumnerova L., Mankin H.J., Rosenberg A.E., and Fletcher J.A. Variant translocations involving 16q22 and 17p13 in solid variant and extraosseous forms of aneurysmal bone cyst. Genes Chromosomes Cancer 28 (2000) 233-234
5. Baruffi M.R., Neto J.B., Barbieri C.H., and Casartelli C. Aneurysmal bone cyst with chromosomal changes involving 7q and 16p. Cancer Genet Cytogenet 129 (2001) 177-180
6. Herens C., Thiry A., Dresse M.F., Born J., Flagothier C., Vanstraelen G., Allington N., and Bex V. Translocation (16;17)(q22;p13) is a recurrent anomaly of aneurysmal bone cysts. Cancer Genet Cytogenet 127 (2001) 83-84
7. Winnepenninckx V., Debiec-Rychter M., Jorissen M., Bogaerts S., and Sciot R. Aneurysmal bone cyst of the nose with 17p13 involvement. Virchows Arch 439 (2001) 636-639
8. Wyatt-Ashmead J., Bao L., Eilert R.E., Gibbs P., Glancy G., and McGavran L. Primary aneurysmal bone cysts: 16q22 and/or 17p13 chromosome abnormalities. Pediatr Dev Pathol 4 (2001) 418-419
9. Nielsen G.P., Fletcher C.D., Smith M.A., Rybak L., and Rosenberg A.E. Soft tissue aneurysmal bone cyst: a clinicopathologic study of five cases. Am J Surg Pathol 26 (2002) 64-69
10. Althof P.A., Ohmori K., Zhou M., Bailey J.M., Bridge R.S., Nelson M., Neff J.R., and Bridge J.A. Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization. Mod Pathol 17 (2004) 518-525
11. Oliveira A.M., Hsi B.L., Weremowicz S., Rosenberg A.E., Dal Cin P., Joseph N., Bridge J.A., Perez-Atayde A.R., and Fletcher J.A. USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res 64 (2004) 1920-1923
12. Oliveira A.M., Perez-Atayde A.R., Inwards C.Y., Medeiros F., Derr V., His B.L., Gebhardt M.C., Rosenberg A.E., and Fletcher J.A. USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts. Am J Pathol 165 (2004) 1773-1780
13. Oliveira A.M., Perez-Atayde A.R., Dal Cin P., Gebhardt M.C., Chen C.J., Neff J.R., Demetri G.D., Rosenberg A.E., Bridge J.A., and Fletcher J.A. Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene 24 (2005) 3419-3426
14. Mandahl N., Heim S., Arheden K., Rydholm A., Willen H., and Mitelman F. Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas. Hum Genet 79 (1988) 203-208
15. ISCN 1995: an international system for human cytogenetic nomenclature (1995). In: Mitelman F. (Ed) (1995), S. Karger, Basel
16. Nakamura T., Hillova J., Mariage-Samson R., Onno M., Huebner K., Cannizzaro L.A., Boghosian-Sell L., Croce C.M., and Hill M. A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells. Oncogene 7 (1992) 733-741
17. Paulding C.A., Ruvolo M., and Haber D.A. The Tre2 (USP6) oncogene is a hominoid-specific gene. Proc Natl Acad Sci U S A 100 (2003) 2507-2511
18. Simon M.P., Pedeutour F., Sirvent N., Grosgeorge J., Minoletti F., Coindre J.M., Terrier-Lacombe M.J., Mandahl N., Craver R.D., Blin N., Sozzi G., Turc-Carel C., O'Brien K.P., Kedra D., Fransson I., Guilbaud C., and Dumanski J.P. Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet 15 (1997) 95-98
19. O'Brien K.P., Seroussi E., Dal Cin P., Sciot R., Mandahl N., Fletcher J.A., Turc-Carel C., and Dumanski J.P. Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas. Genes Chromosomes Cancer 23 (1998) 187-193