Dermatofibrosarcoma protuberans: from translocation to targeted therapy

Cancer Biology and Medicine

Volumn 12, Issue 4, 2015, Pages 375-384

  Noujaim, Jonathan ^a   Thway, Khin ^a   Fisher, Cyril ^a   Jones, Robin L ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

Dermatofibrosarcoma protuberans (DFSP); Imatinib; Mohs micrographic surgery (MMS); Targeted therapy; Translocation

Indexed keywords

IMATINIB;

ADJUVANT CHEMOTHERAPY; CANCER EPIDEMIOLOGY; CANCER INCIDENCE; CANCER RADIOTHERAPY; CANCER SURGERY; CLINICAL FEATURE; DERMATOFIBROSARCOMA PROTUBERANS; GENETIC BACKGROUND; GENETIC TRAIT; HUMAN; REVIEW;

EID: 84954315471     PISSN: 20953941     EISSN: None     Source Type: Journal    
DOI: 10.7497/j.issn.2095-3941.2015.0067     Document Type: Review

References (92)

1. Fletcher CDM BJ, Hogendoorn PCW, Mertens F. WHO Classification of Tumours of Soft Tissue and Bone. Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press 2013.
2. Criscione VD, Weinstock MA. Descriptive epidemiology of dermatofibrosarcoma protuberans in the United States, 1973 to 2002. J Am Acad Dermatol 2007;56:968-973.
3. Bowne WB, Antonescu CR, Leung DH, Katz SC, Hawkins WG, Woodruff JM, et al. Dermatofibrosarcoma protuberans: A clinicopathologic analysis of patients treated and followed at a single institution. Cancer 2000;88:2711-2720.
4. Rutgers EJ, Kroon BB, Albus Lutter CE, Gortzak E. Dermatofibrosarcoma protuberans: treatment and prognosis. Eur J Surg Oncol 1992;18:241-248.
5. Valdivielso-Ramos M, Hernanz JM. Dermatofibrosarcoma protuberans in childhood. Actas Dermosifiliogr 2012;103:863-873.
6. Manganoni AM, Pavoni L, Gualdi G, Marocolo D, Chiudinelli M, Sereni E, et al. Dermatofibrosarcoma protuberans in an adolescent: a case report and review of the literature. J Pediatr Hematol Oncol 2013;35:383-387.
7. Chang CK, Jacobs IA, Salti GI. Outcomes of surgery for dermatofibrosarcoma protuberans. Eur J Surg Oncol 2004;30:341-345.
8. Gloster HM. Dermatofibrosarcoma protuberans. J Am Acad Dermatol 1996;35:355-374; quiz 375.
9. Khatri VP, Galante JM, Bold RJ, Schneider PD, Ramsamooj R, Goodnight JE Jr. Dermatofibrosarcoma protuberans: reappraisal of wide local excision and impact of inadequate initial treatment. Ann Surg Oncol 2003;10:1118-1122.
10. Martin L, Piette F, Blanc P, Mortier L, Avril MF, Delaunay MM, et al. Clinical variants of the preprotuberant stage of dermatofibrosarcoma protuberans. Br J Dermatol 2005;153:932-936.
11. Wrotnowski U, Cooper PH, Shmookler BM. Fibrosarcomatous change in dermatofibrosarcoma protuberans. Am J Surg Pathol 1988;12:287-293.
12. Ding J, Hashimoto H, Enjoji M. Dermatofibrosarcoma protuberans with fibrosarcomatous areas. A clinicopathologic study of nine cases and a comparison with allied tumors. Cancer 1989;64:721-729.
13. Connelly JH, Evans HL. Dermatofibrosarcoma protuberans. A clinicopathologic review with emphasis on fibrosarcomatous areas. Am J Surg Pathol 1992;16:921-925.
14. Fiore M, Miceli R, Mussi C, Lo Vullo S, Mariani L, Lozza L, et al. Dermatofibrosarcoma protuberans treated at a single institution: a surgical disease with a high cure rate. J Clin Oncol 2005;23:7669-7675.
15. Corey RM, Swett K, Ward WG. Epidemiology and survivorship of soft tissue sarcomas in adults: a national cancer database report. Cancer Med 2014;3:1404-1415.
16. Weiss SW, Nickoloff BJ. CD-34 is expressed by a distinctive cell population in peripheral nerve, nerve sheath tumors, and related lesions. Am J Surg Pathol 1993;17:1039-1045.
17. West RB, Harvell J, Linn SC, Liu CL, Prapong W, Hernandez-Boussard T, et al. Apo D in soft tissue tumors: a novel marker for dermatofibrosarcoma protuberans. Am J Surg Pathol 2004;28:1063-1069.
18. Reimann JD, Fletcher CD. Myxoid dermatofibrosarcoma protuberans: a rare variant analyzed in a series of 23 cases. Am J Surg Pathol 2007;31:1371-1377.
19. Mentzel T, Schärer L, Kazakov D, Michal M. Myxoid dermatofibrosarcoma protuberans: clinicopathologic, immunohistochemical, and molecular analysis of eight cases. Am J Dermatopathol 2007;29:443-448.
20. Fletcher CD, Theaker JM, Flanagan A, Krausz T. Pigmented dermatofibrosarcoma protuberans (Bednar tumour): melanocytic colonization or neuroectodermal differentiation? A clinicopathological and immunohistochemical study. Histopathology 1988;13:631-643.
21. Yagi Y, Ueda K, Maruyama S, Noborio R. Bednar tumor: a report of two cases. J Dermatol 2004;31:484-487.
22. Martin L, Combemale P, Dupin M, Chouvet B, Kanitakis J, Bouyssou Gauthier ML, et al. The atrophic variant of dermatofibrosarcoma protuberans in childhood: a report of six cases. Br J Dermatol 1998;139:719-725.
23. Zelger BW, Ofner D. Atrophic variants of dermatofibroma and dermatofibrosarcoma protuberans. Histopathology 1995;26:519-527.
24. Diaz-Cascajo C, Weyers W, Borghi S. Sclerosing dermatofibrosarcoma protuberans. J Cutan Pathol 1998;25:440-444.
25. Hattori H. Nodular sclerotic change in dermatofibrosarcoma protuberans: a potential diagnostic problem. Br J Dermatol 2003;148:357-360.
26. Sabater-Marco V, Pérez-Vallés A, Berzal-Cantalejo F, Rodriguez-Serna M, Martinez-Diaz F, Martorell-Cebollada M. Sclerosing dermatofibrosarcoma protuberans (DFSP): an unusual variant with focus on the histopathologic differential diagnosis. Int J Dermatol 2006;45:59-62.
27. Banerjee SS, Harris M, Eyden BP, Hamid BN. Granular cell variant of dermatofibrosarcoma protuberans. Histopathology 1990;17:375-378.
28. Maire G, Pédeutour F, Coindre J-M. COL1A1-PDGFB gene fusion demonstrates a common histogenetic origin for dermatofibrosarcoma protuberans and its granular cell variant. Am J Surg Pathol 2002;26:932-937.
29. Terrier-Lacombe MJ, Guillou L, Maire G, Terrier P, Vince DR, de Saint Aubain Somerhausen N, et al. Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: clinicopathologic comparative analysis of 28 cases with molecular data-a study from the French Federation of Cancer Centers Sarcoma Group. Am J Surg Pathol 2003;27:27-39.
30. Jha P, Moosavi C, Fanburg Smith J. Giant cell fibroblastoma: an update and addition of 86 new cases from the Armed Forces Institute of Pathology, in honor of Dr. Franz M. Enzinger. Ann Diagn Pathol 2007;11:81-88.
31. Goldblum JR. CD34 positivity in fibrosarcomas which arise in dermatofibrosarcoma protuberans. Arch Pathol Lab Med 1995;119:238-241.
32. Hoesly PM, Lowe GC, Lohse CM, Brewer JD, Lehman JS. Prognostic impact of fibrosarcomatous transformation in dermatofibrosarcoma protuberans: a cohort study. J Am Acad Dermatol 2015;72:419-425.
33. Liang CA, Jambusaria-Pahlajani A, Karia PS, Elenitsas R, Zhang PD, Schmults CD. A systematic review of outcome data for dermatofibrosarcoma protuberans with and without fibrosarcomatous change. J Am Acad Dermatol 2014;71:781-786.
34. Bridge JA, Neff JR, Sandberg AA. Cytogenetic analysis of dermatofibrosarcoma protuberans. Cancer Genet Cytogenet 1990;49:199-202.
35. Mandahl N, Heim S, Willén H, Rydholm A, Mitelman F. Supernumerary ring chromosome as the sole cytogenetic abnormality in a dermatofibrosarcoma protuberans. Cancer Genet Cytogenet 1990;49:273-275.
36. Pedeutour F, Coindre JM, Sozzi G, Nicolo G, Leroux A, Toma S, et al. Supernumerary ring chromosomes containing chromosome 17 sequences. A specific feature of dermatofibrosarcoma protuberans? Cancer Genet Cytogenet 1994;76:1-9.
37. Pedeutour F, Simon MP, Minoletti F, Sozzi G, Pierotti MA, Hecht F, et al. Ring 22 chromosomes in dermatofibrosarcoma protuberans are low-level amplifiers of chromosome 17 and 22 sequences. Cancer Res 1995;55:2400-2403.
38. Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, 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.
39. Takahira T, Oda Y, Tamiya S, Higaki K, Yamamoto H, Kobayashi C, et al. Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans. Mod Pathol 2007;20:668-675.
40. Heldin CH, Westermark B. Mechanism of action and in vivo role of platelet-derived growth factor. Physiol Rev 1999;79:1283-1316.
41. Andrae J, Gallini R, Betsholtz C. Role of platelet-derived growth factors in physiology and medicine. Genes Dev 2008;22:1276-1312.
42. Greco A, Fusetti L, Villa R, Sozzi G, Minoletti F, Mauri P, et al. Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans. Oncogene 1998;17:1313-1319.
43. Shimizu A, O'Brien KP, Sjablom T, Pietras K, Buchdunger E, Collins VP, 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.
44. Kerob D, Pedeutour F, Leboeuf C, Verola O, de Kerviler E, Servant J, et al. Value of cytogenetic analysis in the treatment of dermatofibrosarcoma protuberans. J Clin Oncol 2008;26:1757-1759.
45. Salgado R, Llombart B, M Pujol R, Fernández-Serra A, Sanmartín O, Toll A, et al. Molecular diagnosis of dermatofibrosarcoma protuberans: a comparison between reverse transcriptase- polymerase chain reaction and fluorescence in situ hybridization methodologies. Genes Chromosomes Cancer 2011;50:510-517.
46. Patel KU, Szabo SS, Hernandez VS, Prieto VG, Abruzzo LV, Lazar AJ, et al. Dermatofibrosarcoma protuberans COL1A1- PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays. Hum Pathol 2008;39:184-193.
47. Abbott JJ, Erickson-Johnson M, Wang X, Nascimento AG, Oliveira AM. Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans. Mod Pathol 2006;19:1512-1518.
48. Takahira T, Oda Y, Tamiya S, Yamamoto H, Kawaguchi K, Kobayashi C, et al. Microsatellite instability and p53 mutation associated with tumor progression in dermatofibrosarcoma protuberans. Hum Pathol 2004;35:240-245.
49. Lin N, Urabe K, Moroi Y, Uchi H, Nakahara T, Dainichi T, et al. Overexpression of phosphorylated-STAT3 and phosphorylated- ERK protein in dermatofibrosarcoma protuberans. Eur J Dermatol 2006;16:262-265.
50. Maekawa T, Jinnin M, Ohtsuki M, Ihn H. The expression levels of thrombospondin-1 in dermatofibroma and dermatofibrosarcoma protuberans. Eur J Dermatol 2011;21:534-538.
51. Ugurel S, Mentzel T, Utikal J, Helmbold P, Mohr P, Pföhler C, et al. Neoadjuvant imatinib in advanced primary or locally recurrent dermatofibrosarcoma protuberans: a multicenter phase II DeCOG trial with long-term follow-up. Clin Cancer Res 2014;20:499-510.
52. Kajihara I, Jinnin M, Harada M, Makino K, Honda N, Makino T, et al. miR-205 down-regulation promotes proliferation of dermatofibrosarcoma protuberans tumor cells by regulating LRP-1 and ERK phosphorylation. Arch Dermatol Res 2014;306:367-374.
53. Bianchini L, Maire G, Guillot B, Joujoux JM, Follana P, Simon MP, et al. Complex t(5;8) involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma protuberans without the COL1A1- PDGFB fusion. Virchows Arch 2008;452:689-696.
54. Rutkowski P, Debiec-Rychter M. Current treatment options for dermatofibrosarcoma protuberans. Expert Rev Anticancer Ther 2015;15:901-909.
55. DuBay D, Cimmino V, Lowe L, Johnson T, Sondak V. Low recurrence rate after surgery for dermatofibrosarcoma protuberans: a multidisciplinary approach from a single institution. Cancer 2004;100:1008-1016.
56. Paradisi A, Abeni D, Rusciani A, Cigna E, Wolter M, Scuderi N, et al. Dermatofibrosarcoma protuberans: wide local excision vs. Mohs micrographic surgery. Cancer Treat Rev 2008;34:728-736.
57. Foroozan M, Sei JF, Amini M, Beauchet A, Saiag P. Efficacy of Mohs micrographic surgery for the treatment of dermatofibrosarcoma protuberans: systematic review. Arch Dermatol 2012;148:1055-1063.
58. Arnaud EJ, Perrault M, Revol M, Servant JM, Banzet P. Surgical treatment of dermatofibrosarcoma protuberans. Plast Reconstr Surg 1997;100:884-895.
59. Lemm D, Mügge LO, Mentzel T, Höffken K. Current treatment options in dermatofibrosarcoma protuberans. J Cancer Res Clin Oncol 2009;135:653-665.
60. Wacker J, Khan Durani B, Hartschuh W. Modified Mohs micrographic surgery in the therapy of dermatofibrosarcoma protuberans: analysis of 22 patients. Ann Surg Oncol 2004;11:438-444.
61. Meguerditchian AN, Wang J, Lema B, Kraybill W, Zeitouni N, Kane J. Wide excision or Mohs micrographic surgery for the treatment of primary dermatofibrosarcoma protuberans. Am J Clin Oncol 2010;33:300-303.
62. Serra-Guillén C, Llombart B, Nagore E, Guillén C, Requena C, Traves V, et al. Mohs micrographic surgery in dermatofibrosarcoma protuberans allows tumour clearance with smaller margins and greater preservation of healthy tissue compared with conventional surgery: a study of 74 primary cases. Br J Dermatol 2015;172:1303-1307.
63. Snow SN, Gordon EM, Larson PO, Bagheri MM, Bentz ML, Sable DB. Dermatofibrosarcoma protuberans: a report on 29 patients treated by Mohs micrographic surgery with long-term follow-up and review of the literature. Cancer 2004;101:28-38.
64. Loghdey MS, Varma S, Rajpara SM, Al-Rawi H, Perks G, Perkins W. Mohs micrographic surgery for dermatofibrosarcoma protuberans (DFSP): a single-centre series of 76 patients treated by frozen- section Mohs micrographic surgery with a review of the literature. J Plast Reconstr Aesthet Surg 2014;67:1315-1321.
65. Ratner D, Thomas CO, Johnson TM, Sondak VK, Hamilton TA, Nelson BR, et al. Mohs micrographic surgery for the treatment of dermatofibrosarcoma protuberans. Results of a multiinstitutional series with an analysis of the extent of microscopic spread. J Am Acad Dermatol 1997;37:600-613.
66. Nouri K, Lodha R, Jimenez G, Robins P. Mohs micrographic surgery for dermatofibrosarcoma protuberans: University of Miami and NYU experience. Dermatol Surg 2002;28:1060-1064; discussion 1064.
67. Saiag P, Grob JJ, Lebbe C, Malvehy J, Del Marmol V, Pehamberger H, et al. Diagnosis and treatment of dermatofibrosarcoma protuberans. European consensus-based interdisciplinary guideline. Eur J Cancer 2015. [Epub ahead of print].
68. Bichakjian CK, Olencki T, Alam M, Andersen JS, Berg D, Bowen GM, et al. Dermatofibrosarcoma protuberans, version 1.2014. J Natl Compr Canc Netw 2014;12:863-868.
69. Dagan R, Morris C, Zlotecki R, Scarborough M, Mendenhall W. Radiotherapy in the treatment of dermatofibrosarcoma protuberans. Am J Clin Oncol 2005;28:537-539.
70. Haas RL, Keus RB, Loftus BM, Rutgers EJ, van Coevorden F, Bartelink H. The role of radiotherapy in the local management of dermatofibrosarcoma protuberans. Soft Tissue Tumours Working Group. Eur J Cancer 1997;33:1055-1060.
71. Ballo MT, Zagars GK, Pisters P, Pollack A. The role of radiation therapy in the management of dermatofibrosarcoma protuberans. Int J Radiat Oncol Biol Phys 1998;40:823-827.
72. Castle KO, Guadagnolo BA, Tsai CJ, Feig BW, Zagars GK. Dermatofibrosarcoma protuberans: long-term outcomes of 53 patients treated with conservative surgery and radiation therapy. Int J Radiat Oncol Biol Phys 2013;86:585-590.
73. Fields RC, Hameed M, Qin LX, Moraco N, Jia X, Maki RG, et al. Dermatofibrosarcoma protuberans (DFSP): predictors of recurrence and the use of systemic therapy. Ann Surg Oncol 2011;18:328-336.
74. Mendoza CB, Gerwig WH, Watne AL. Dermatofibrosarcoma protuberans with metastases treated with methotrexate. Am J Surg 1970;120:119-121.
75. Ng A, Nishikawa H, Lander A, Grundy R. Chemosensitivity in pediatric dermatofibrosarcoma protuberans. J Pediatr Hematol Oncol 2005;27:100-102.
76. Greco A, Roccato E, Miranda C, Cleris L, Formelli F, Pierotti MA. Growth-inhibitory effect of STI571 on cells transformed by the COL1A1/PDGFB rearrangement. Int J Cancer 2001;92:354-360.
77. Sjöblom T, Shimizu A, O'Brien KP, Pietras K, Dal Cin P, Buchdunger E, et al. Growth inhibition of dermatofibrosarcoma protuberans tumors by the platelet-derived growth factor receptor antagonist STI571 through induction of apoptosis. Cancer Res 2001;61:5778-5783.
78. Stacchiotti S, Pantaleo MA, Negri T, Astolfi A, Tazzari M, Dagrada GP, et al. Efficacy and biological activity of imatinib in metastatic dermatifibrosarcoma protuberans (DFSP). Clin Cancer Res 2015. [Epub ahead of print].
79. Maki RG, Awan RA, Dixon RH, Jhanwar S, Antonescu CR. Differential sensitivity to imatinib of 2 patients with metastatic sarcoma arising from dermatofibrosarcoma protuberans. Int J Cancer 2002;100:623-626.
80. Rubin BP, Schuetze SM, Eary JF, Norwood TH, Mirza S, Conrad EU, 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.
81. Mizutani K, Tamada Y, Hara K, Tsuzuki T, Saeki H, Tamaki K, et al. Imatinib mesylate inhibits the growth of metastatic lung lesions in a patient with dermatofibrosarcoma protuberans. Br J Dermatol 2004;151:235-237.
82. Price VE, Fletcher JA, Zielenska M, Cole W, Viero S, Manson DE, et al. Imatinib mesylate: an attractive alternative in young children with large, surgically challenging dermatofibrosarcoma protuberans. Pediatr Blood Cancer 2005;44:511-555.
83. McArthur GA, Demetri GD, van Oosterom A, Heinrich MC, Debiec-Rychter M, Corless CL, 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.
84. Heinrich MC, Joensuu H, Demetri GD, Corless CL, Apperley J, Fletcher JA, et al. Phase II, open-label study evaluating the activity of imatinib in treating life-threatening malignancies known to be associated with imatinib-sensitive tyrosine kinases. Clin Cancer Res 2008;14:2717-2725.
85. Rutkowski P, Van Glabbeke M, Rankin C, Ruka W, Rubin B, Debiec Rychter M, et al. Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol 2010;28:1772-1779.
86. Kérob D, Porcher R, Vérola O, Dalle S, Maubec E, Aubin F, et al. Imatinib mesylate as a preoperative therapy in dermatofibrosarcoma: results of a multicenter phase II study on 25 patients. Clin Cancer Res 2010;16:3288-3295.
87. Kamar FG, Kairouz VF, Sabri AN. Dermatofibrosarcoma protuberans (DFSP) successfully treated with sorafenib: case report. Clin Sarcoma Res 2013;3:5.
88. Gronchi A, Stacchiotti S, Pedeutour F, Collini P, Tamborini E, Morosi C, et al. Response to imatinib mesylate (IM) in fibrosarcoma (FS) arising in dermatofibrosarcoma protuberans (DFSP). J Clin Oncol (Meeting Abstracts) 2008;26:10593.
89. Rutkowski P, Dębiec Rychter M, Nowecki Z, Michej W, Symonides M, Ptaszynski K, et al. Treatment of advanced dermatofibrosarcoma protuberans with imatinib mesylate with or without surgical resection. J Eur Acad Dermatol Venereol 2011;25:264-270.
90. Labropoulos SV, Fletcher JA, Oliveira AM, Papadopoulos S, Razis ED. Sustained complete remission of metastatic dermatofibrosarcoma protuberans with imatinib mesylate. Anticancer Drugs 2005;16:461-466.
91. Hong JY, Liu X, Mao M, Li M, Choi DI, Kang SW, et al. Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing. PLoS One 2013;8:e69752.
92. Eilers G, Czaplinski J, Mayeda M, Bahri N, Tao D, Zhu M, et al. CDKN2A/p16 loss implicates CDK4 as a therapeutic target in imatinib-resistant dermatofibrosarcoma protuberans. Mol Cancer Ther 2015;14:1346-1353.