Dermatofibrosarcoma protuberans with fibrosarcomatous transformation: a case report

Česká verzia

Authors: Jan Hrudka ¹; Martin Charvát ²; Petr Grossmann ³; Zdeněk Kinkor ³
Authors place of work: Ústav patologie 3. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice Královské Vinohrady, Praha. ¹; Klinika plastické chirurgie 3. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice Královské Vinohrady, Praha. ²; Šiklův ústav patologie, Fakultní nemocnice Plzeň, Lékařská fakulta Univerzity Karlovy v Plzni a Bioptická laboratoř s. r. o., Plzeň. ³
Published in the journal: Čes.-slov. Patol., 56, 2020, No. 2, p. 89-93
Category: Original Article

Summary

Dermatofibrosarcoma protuberans is a quite rare local aggressive tumor of dermis and subcutis, revealing characteristic morphology and chromosomal translocation (17; 22)(q21;q13) with gene fusion COL1A1-PDGFB. The tumour almost never metastasizes and complete excision signs an excellent prognosis. Approximately in 10% of cases, dermatofibrosarcoma undergoes a fibrosarcomatous transformation associated with metastatic disease and worse prognosis. In this paper, we refer a case of a male patient with subcutaneous tumor in back region, in which the small biopsy lead to diagnosis of a spindle cell sarcoma. However, only the histopathological examination of the entire tumor in the material from the radical surgery detected the dermatofibrosarcoma protuberans with fibrosarcomatous transformation. Both components of the tumor showed the characteristic genetic alteration. Identification of fibrosarcomatous component within the DFSP matters in prognosis. Distinction between fibrosarcoma arising within the dermatofibrosarcoma protuberans and fibrosarcoma arising de novo is of therapeutic consequence: the patients with metastatic or inoperable DFSP with fibrosarcomatous transformation may profit form imatinib treatment.

Keywords:

dermatofibrosarcoma protuberans – Fibrosarcoma – fibrosarcomatous – transformation – change

Zdroje

Povýšil C. Mezenchymové nádory. In: Povýšil C, Šteiner I (eds.). Obecná patologie. Galén, Praha, 2011. P. 205.
Gharazin D, Labonte S, Dickson BC, Al Habeeb A. Immunohistology and molecular studies of fibrohistiocytic and myofibroblastic tumors. In: Plaza JA, Prieto VG (eds.). Applied immunohistochemistry in the evaluation of skin neoplasms. Springer International Publishing Switzerland 2016. Pp. 124-127.
Mentzel T, Pedeutour F, Lazar A, Coindre JM. Dermatofibrosarcoma protuberans. In: Fletcher DMC, Bridge JA, Hogendoorn PCW, Mertens F (Eds.). WHO Classification of tumours of soft tissue and bone. IARC: Lyon 2013. Pp. 77-79.
Song JS, Kim EJ, Park CS, Cho KJ. Dermatofibrosarcoma protuberans: an immunomarker study of 57 cases that included putative mesenchymal stem cell markers. Appl Immunohistochem Mol Morphol 2017; 25(8):586-591.
Hoang MP, Selim MA, Bentley RC, Burchette JL, Shea CR. CD34 expression in desmoplastic melanoma. J Cutan Pathol 2001; 28(10): 508-512.
Kacar A, Demir HA, Durak H, Derisoglu S. Spindle cell rhabdomyosarcoma displaying CD34 positivity: a potential diagnostic pitfall; report of two pediatric cases. Turk Patoloji Derg 2013; 29(3): 221-226.
Sangiorgio V, Zanagnoio V, Aletti G, et al. Fibroblastic malignant peripheral nerve sheath tumour of the uterine cervix: report of a case and literature review with emphasis on possible differential diagnosis. Int J Gynecol Pathol 2018; 37(5): 497-503.
Reifs CMA, Salido-Vallejo R. Dermatofibrosarcoma protuberans with fibrosarcomatous transformation. An Bras Dermatol 2016; 91(5): 700-701.
Palmerini E, Gambarotti M, Staals EL, et al. Fibrosarcomatous changes and expression of CD34+ nad apolipoprotein-D in dermatofibrosarcoma protuberans. Clin Sarcoma Res 2012; 2(1): 4.
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(11): 1512-1518.
McArthur GA. Molecular targeting of dermatofibrosarcoma protuberans: a new approach to a surgical disease. J Natl Compr Canc Netw 2007; 5(5): 557-562.
Salgado R, Llombart B, Pujol RM, 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(7): 510-517.
Karanian M, Pérot G, Coindre JM, Chibon F, Pedeutour F, Neuville A. Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans. Mod Pathol 2015; 28(2): 230-237.
Patel KU, Szabo SS, Hernandez VS, Prieto VG, Abruzzo LV, Lazar AJ, López-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(2): 184-193.
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): 1-19.
Terrier-Lacombe MJ, Guillou L, Maire G, et al. Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: clinicopathologic komparative analysis of 28 cases with molecular data: a study from the french federation of cancer centers sarcoma group. Am J Surg Pathol 2003; 27(1): 27-39.
Rutkowski P, Klimczak A, Lugowska I, et al. Long-term results of treatment of advanced dermatofibrosarcoma protuberans (DFSP) with imatinib mesylate - The impact of fibrosarcomatous transformation. Eur J Surg Oncol 2017;43(6): 1134-1141.
Rutkowski P, Van Glabbeke M, Rankin CJ, et al. Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol 2010; 28(10): 1772-1779.
Ugurel S, Mentzel T, Utikal J, 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(2): 499-510.
Dickson BC, Hornick JL, Fletcher CDM, et al. Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast. Genes Chromosomes Cancer 2018; 57(9): 437-445.
Dadone-Montaudié B, Alberti L, Duc A. Alternative PDGFD rearrangements in dermatofibrosarcomas protuberans without PDGFB fusions. Mod Pathol 2018; 31(11): 1683-1693.
Yamazaki F, Nakatani F, Asano N, et al. Novel NTRK3 fusions in fibrosarcomas of adults. Am J Surg Pathol 2019; 43(4): 523-530.
Voth H, Landsberg J, Hinz T, et al. Management of dermatofibrosarcoma protuberans with fibrosarcomatous transformation: an evidence-based review of the literature. J Eur Acad Dermatol Venereol 2011; 25(12): 1385-1391.
Serra-Guillén C, Llombart B, Nagore E, 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(5): 1303-1307.