Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans

Modern Pathology

Volumn 19, Issue 11, 2006, Pages 1512-1518

  Abbott, Jared J ^a   Erickson Johnson, Michele ^a   Wang, Xiaoke ^a   Nascimento, Antonio G ^a   Oliveira, Andre M ^a  

^a MAYO CLINIC   (United States)

Author keywords

Amplification; COL1A1 PDGFB; Dermatofibrosarcoma protuberans; Fibrosarcoma; Ring chromosomes

Indexed keywords

PARAFFIN;

ADULT; AGED; ARTICLE; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; COLLAGEN TYPE I ALPHA I PLATELET DERIVED GROWTH FACTOR BETA GENE; CONTROLLED STUDY; DERMATOFIBROSARCOMA PROTUBERANS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE EXPRESSION; GENE LOCUS; GENE PROBE; GENETIC ANALYSIS; HUMAN; MALE; MOLECULAR EVOLUTION; PRIORITY JOURNAL; TISSUE SECTION; TUMOR GROWTH;

ADULT; AGED; AGED, 80 AND OVER; BONE NEOPLASMS; CELL TRANSFORMATION, NEOPLASTIC; DERMATOFIBROSARCOMA; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; NEOPLASM INVASIVENESS; ONCOGENE PROTEINS, FUSION; SKIN NEOPLASMS; TRANSLOCATION, GENETIC;

EID: 33750346939     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.3800695     Document Type: Article

References (26)

1. Gloster HM. Dermatofibrosarcoma protuberans. J Am Acad Dermatol 1996;35:355-374.
2. Abbott JJ, Oliveira AM, Nascimento AG. The prognostic significance of fibrosarcomatous transformation in dermatofibrosarcoma protuberans. Am J Surg Pathol 2006;30:436-443.
3. Mentzel T, Beham A, Katenkamp D, et al. Fibrosarcomatous ('high-grade') dermatofibrosarcoma protuberans: clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance [see comment]. Am J Surg Pathol 1998;22:576-587.
4. DuBay D, Cimmino V, Lowe L, et al. Low recurrence rate after surgery for dermatofibrosarcoma protuberans: a multidisciplinary approach from a single institution. Cancer 2004;100:1008-1016.
5. Gloster HM, Harris KR, Roenigk RK. A comparison between Mohs micrographic surgery and wide surgical excision for the treatment of dermatofibrosarcoma protuberans. J Am Acad Dermatol 1996;35:88-95.
6. Sirvent N, Maire G, Pedeutour F. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer 2003;37:1-19.
7. Pedeutour F, Coindre JM, Nicolo G, et al. Ring chromosomes in dermatofibrosarcoma protuberans contain chromosome 17 sequences: fluorescence in situ hybridization. Cancer Genet Cytogenet 1993;67:149.
8. Pedeutour F, Simon MP, Minoletti F, et al. Translocation, t(17;22)(q22;q13), in dermatofibrosarcoma protuberans: a new tumor-associated chromosome rearrangement. Cytogenet Cell Genet 1996;72:171-174.
9. Simon MP, Pedeutour F, Sirvent N, et al. Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet 1997;15:95-98.
10. Shimizu A, O'Brien KP, Sjoblom T, et al. The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. Cancer Res 1999;59:3719-3723.
11. Simon MP, Navarro M, Roux D, et al. Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22) (q22;q13.1) in Dermatofibrosarcoma protuberans (DP). Oncogene 2001;20:2965-2975.
12. Wang J, Morimitsu Y, Okamoto S, et al. COL1A1-PDGFB fusion transcripts in fibrosarcomatous areas of six dermatofibrosarcomas protuberans. J Mol Diagn 2000;2:47-52.
13. Kiuru-Kuhlefelt S, El-Rifai W, Fanburg-Smith J, et al. Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans. Cytogenet Cell Genet 2001;92:192-195.
14. Bowne WB, Antonescu CR, Leung DH, et al. Dermatofibrosarcoma protuberans: a clinicopathologic analysis of patients treated and followed at a single institution. Cancer 2000;88:2711-2720.
15. Hisaoka M, Okamoto S, Morimitsu Y, et al. Dermatofibrosarcoma protuberans with fibrosarcomatous areas. molecular abnormalities of the p53 pathway in fibrosarcomatous transformation of dermatofibrosarcoma protuberans. Virchows Arch 1998;433:323-329.
16. Takahira T, Oda Y, Tamiya S, et al. Microsatellite instability and p53 mutation associated with tumor progression in dermatofibrosarcoma protuberans. Hum Pathol 2004;35:240-245.
17. Sasaki M, Ishida T, Horiuchi H, et al. Dermatofibrosarcoma protuberans: an analysis of proliferative activity, DNA flow cytometry and p53 overexpression with emphasis on its progression. Pathol Int 1999;49:799-806.
18. Saeki H, Hoashi T, Tada Y, et al. Analysis of gene mutations in three cases of dermatofibrosarcoma protuberans (DFSP): ordinary DFSP, DFSP with fibrosarcomatous lesion (DFSP-FS) and lung metastasis of DFSP-FS. J Dermatol Sci 2003;33:161-167.
19. Schwab M. Oncogene amplification in solid tumors. Semin Cancer Biol 1999;9:319-325.
20. Jones SN, Hancock AR, Vogel H, et al. Overexpression of Mdm2 in mice reveals a p53-independent role for Mdm2 in tumorigenesis. Proc Natl Acad Sci 1998;95:15608-15612.
21. Ried T, Heselmeyer-Haddad K, Blegen H, et al. Genomic changes defining the genesis, progression, and malignancy potential in solid human tumors: a phenotype/genotype correlation. Genes Chromosomes Cancer 1999;25:195-204.
22. Sheng WQ, Hashimoto H, Okamoto S, et al. Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans. J Pathol 2001;194:88-94.
23. McArthur GA, Demetri GD, van Oosterom A, et al. Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225. J Clin Oncol 2005;23:866-873.
24. Labropoulos SV, Fletcher JA, Oliveira AM, et al. Sustained complete remission of metastatic dermatofibrosarcoma protuberans with imatinib mesylate. Anticancer Drugs 2005;16:461-466.
25. Rubin BP, Schuetze SM, Eary JF, et al. Molecular targeting of platelet-derived growth factor B by imatinib mesylate in a patient with metastatic dermatofibrosarcoma protuberans. J Clin Oncol 2002;20:3586-3591.
26. Maki RG, Awan RA, Dixon RH, et al. Differential sensitivity to imatinib of 2 patients with metastatic sarcoma arising from dermatofibrosarcoma protuberans. Int J Cancer 2002;100:623-626.