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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2012

Open Access 01-12-2012 | Case Report

Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement

Authors: Jianjun Qiao, Kayuri U Patel, Dolores López-Terrada, Hong Fang

Published in: Diagnostic Pathology | Issue 1/2012

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Abstract

Dermatofibrosarcoma protuberans is a locally aggressive mesenchymal neoplasm. It usually presents as an indurated plaque that protrudes above the surface of the skin. Some patients have clinically persistent plaques that might be atrophic. The atrophic variant of dermatofibrosarcoma protuberans may be confused with some common skin diseases with atrophic appearance. We reported a 40-year-old woman who had a 10-year history of an atrophic dermatofibrosarcoma protuberans. Molecular analysis showed a fusion between COL1A1 exon 31 to exon 2 of PDGFB. The lesion was totally excised, with negative margins of the resection demonstrated by CD34 immunostaining. To our knowledge, this is the second case of atrophic dermatofibrosarcoma protuberans confirmed by detection of COL1A1-PDGFB fusion gene. This appears to be the first report of a fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans.

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Literature
1.
Dimitropoulos VA: Dermatofibrosarcoma protuberans. Dermatol Ther. 2008, 21: 428-432. 10.1111/j.1529-8019.2008.00242.x.CrossRefPubMed
2.
Kampshoff JL, Cogbill TH: Unusual skin tumors: Merkel cell carcinoma, eccrine carcinoma, glomus tumors, and dermatofibrosarcoma protuberans. Surg Clin North Am. 2009, 89: 727-738. 10.1016/j.suc.2009.02.005.CrossRefPubMed
3.
Sinovich V, Hollowood K, Burge S: Atrophic dermatofibrosarcoma protuberans. Australas J Dermatol. 2005, 46: 114-117. 10.1111/j.1440-0960.2005.00156.x.CrossRefPubMed
4.
Sheehan DJ, Madkan V, Strickling WA, Peterson CM: Atrophic dermatofibrosarcoma protuberans: a case report and reappraisal of the literature. Cutis. 2004, 74: 237-242.PubMed
5.
Young CR, Albertini MJ: Atrophic dermatofibrosarcoma protuberans: case report, review, and proposed molecular mechanisms. J Am Acad Dermatol. 2003, 49: 761-764. 10.1067/S0190-9622(03)00793-X.CrossRefPubMed
6.
Bogucki B, Neuhaus I, Hurst EA: Dermatofibrosarcoma protuberans: a review of the literature. Dermatol Surg. 2012, 10.1111/j.1524-4725.2011.02292.x.
7.
Llombart B, Sanmartin O, Requena C, Monteagudo C, Botella-Estrada R, Nagore E, Serra C, Alfaro A, Pellin A, Llombart-Bosch A, et al.: Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB. J Eur Acad Dermatol Venereol. 2008, 22: 371-374. 10.1111/j.1468-3083.2007.02327.x.CrossRefPubMed
8.
Hanabusa M, Kamo R, Harada T, Ishii M: Dermatofibrosarcoma protuberans with atrophic appearance at early stage of the tumor. J Dermatol. 2007, 34: 336-339. 10.1111/j.1346-8138.2007.00283.x.CrossRefPubMed
9.
Martin L, Piette F, Blanc P, Mortier L, Avril MF, Delaunay MM, Dreno B, Granel F, Mantoux F, Aubin F, et al.: Clinical variants of the preprotuberant stage of dermatofibrosarcoma protuberans. Br J Dermatol. 2005, 153: 932-936. 10.1111/j.1365-2133.2005.06823.x.CrossRefPubMed
10.
Fujimoto M, Kikuchi K, Okochi H, Furue M: Atrophic dermatofibrosarcoma protuberans: a case report and review of the literature. Dermatology. 1998, 196: 422-424. 10.1159/000017936.CrossRefPubMed
11.
Wu JK, Malik MM, Egan CA: Atrophic dermatofibrosarcoma protuberans: an uncommon and misleading variant. Australas J Dermatol. 2004, 45: 175-177. 10.1111/j.1440-0960.2004.00083.x.CrossRefPubMed
12.
13.
Martorell M, Perez-Valles A, Gozalbo F, Garcia-Garcia JA, Gutierrez J, Gaona J: Solitary fibrous tumor of the thigh with epithelioid features: a case report. Diagn Pathol. 2007, 2: 19-10.1186/1746-1596-2-19.PubMedCentralCrossRefPubMed
14.
Hollmig ST, Sachdev R, Cockerell CJ, Posten W, Chiang M, Kim J: Spindle cell neoplasms encountered in dermatologic surgery: a review. Dermatol Surg. 2012, 38: 825-850. 10.1111/j.1524-4725.2012.02296.x.CrossRefPubMed
15.
Rodriguez-Jurado R, Palacios C, Duran-McKinster C, Mercadillo P, Orozco-Covarrubias L, Saez-de-Ocariz Mdel M, Ruiz-Maldonado R: Medallion-like dermal dendrocyte hamartoma: a new clinically and histopathologically distinct lesion. J Am Acad Dermatol. 2004, 51: 359-363. 10.1016/j.jaad.2003.11.070.CrossRefPubMed
16.
Marque M, Bessis D, Pedeutour F, Viseux V, Guillot B, Fraitag-Spinner S: Medallion-like dermal dendrocyte hamartoma: the main diagnostic pitfall is congenital atrophic dermatofibrosarcoma. Br J Dermatol. 2009, 160: 190-193. 10.1111/j.1365-2133.2008.08896.x.CrossRefPubMed
17.
Ducharme EE, Baribault KE, Husain S, Engler DE: Medallion-like dermal dendrocyte hamartoma in a 36-year-old male. J Am Acad Dermatol. 2008, 59: 169-172. 10.1016/j.jaad.2008.03.003.CrossRefPubMed
18.
Patel KU, Szabo SS, Hernandez VS, Prieto VG, Abruzzo LV, Lazar AJ, Lopez-Terrada D: 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. 10.1016/j.humpath.2007.06.009.CrossRefPubMed
19.
Maire G, Fraitag S, Galmiche L, Keslair F, Ebran N, Terrier-Lacombe MJ, de Prost Y, Pedeutour F: A clinical, histologic, and molecular study of 9 cases of congenital dermatofibrosarcoma protuberans. Arch Dermatol. 2007, 143: 203-210. 10.1001/archderm.143.2.203.CrossRefPubMed
20.
Lemm D, Mugge LO, Mentzel T, Hoffken K: Current treatment options in dermatofibrosarcoma protuberans. J Cancer Res Clin Oncol. 2009, 135: 653-665. 10.1007/s00432-009-0550-3.CrossRefPubMed
21.
Paradisi A, Abeni D, Rusciani A, Cigna E, Wolter M, Scuderi N, Rusciani L, Kaufmann R, Podda M: Dermatofibrosarcoma protuberans: wide local excision vs. Mohs micrographic surgery. Cancer Treat Rev. 2008, 34: 728-736. 10.1016/j.ctrv.2008.06.002.CrossRefPubMed
22.
Galimberti G, Montano AP, Kowalczuk A, Ferrario D, Galimberti R: Outcomes in 11 patients with dermatofibrosarcoma protuberans treated with Mohs micrographic surgery. Int J Dermatol. 2012, 51: 89-93. 10.1111/j.1365-4632.2010.04721.x.CrossRefPubMed
23.
Tan WP, Barlow RJ, Robson A, Kurwa HA, McKenna J, Mallipeddi R: Dermatofibrosarcoma protuberans: 35 patients treated with Mohs micrographic surgery using paraffin sections. Br J Dermatol. 2011, 164: 363-366. 10.1111/j.1365-2133.2010.10095.x.CrossRefPubMed
24.
McArthur GA, Demetri GD, van Oosterom A, Heinrich MC, Debiec-Rychter M, Corless CL, Nikolova Z, Dimitrijevic S, Fletcher JA: 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. 10.1200/JCO.2005.07.088.CrossRefPubMed
25.
Rutkowski P, Wozniak A, Switaj T: Advances in molecular characterization and targeted therapy in dermatofibrosarcoma protuberans. Sarcoma. 2011, 2011: 959132-PubMedCentralCrossRefPubMed
26.
Rubin BP, Schuetze SM, Eary JF, Norwood TH, Mirza S, Conrad EU, Bruckner JD: 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. 10.1200/JCO.2002.01.027.CrossRefPubMed
27.
Rutkowski P, Debiec-Rychter M, Nowecki Z, Michej W, Symonides M, Ptaszynski K, Ruka W: Treatment of advanced dermatofibrosarcoma protuberans with imatinib mesylate with or without surgical resection. J Eur Acad Dermatol Venereol. 2011, 25: 264-270. 10.1111/j.1468-3083.2010.03774.x.CrossRefPubMed
28.
Rutkowski P, Van Glabbeke M, Rankin CJ, Ruka W, Rubin BP, Debiec-Rychter M, Lazar A, Gelderblom H, Sciot R, Lopez-Terrada D, et al.: Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol. 2010, 28: 1772-1779. 10.1200/JCO.2009.25.7899.PubMedCentralCrossRefPubMed
Metadata
Title
Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement
Authors
Jianjun Qiao
Kayuri U Patel
Dolores López-Terrada
Hong Fang
Publication date
01-12-2012
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2012
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/1746-1596-7-166

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