Dermatofibrosarcoma Protuberans
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Latest Research Publications

This list of publications is regularly updated (Source: PubMed).

de Morais OO, de Araújo LC, Gomes CM, et al.
Congenital dermatofibrosarcoma protuberans.
Cutis. 2012; 90(6):285-8 [PubMed]
Congenital dermatofibrosarcoma protuberans (DFSP) is a rare dermal and subcutaneous neoplasm of low-grade malignant behavior that is characterized by a low frequency of metastases with locally invasive growth. Its occurrence at birth and during childhood is rare. We present a case of a patient who was born with a light brown macule on his right buttock that was misdiagnosed as localized scleroderma. The lesion progressed into reddish atrophic plaques and nodules extending to the iliac region and the gluteal fold. At 5 years of age, a diagnosis of congenital DFSP was made based on clinical and immunohistochemical characteristics (CD34 positivity and spindle cell proliferation). Although there was a delay in diagnosis, a 3-step excision was proposed with a final step of Mohs micrographic surgery (MMS).


Llombart B, Serra-Guillén C, Monteagudo C, et al.
Dermatofibrosarcoma protuberans: a comprehensive review and update on diagnosis and management.
Semin Diagn Pathol. 2013; 30(1):13-28 [PubMed]
Dermatofibrosarcoma protuberans (DFSP) is a rare superficial tumor characterized by high rates of local recurrence and low risk of metastasis. DFSP occurs most commonly on the trunk and proximal extremities, affects all races, and often develops between the second and fifth decade of life. The tumor grows slowly, typically over years. Histologically, several variants of DFSP have been described and should be well characterized to avoid misdiagnosis with other tumors. These include pigmented (Bednar tumor), myxoid, myoid, granular cell, sclerotic, atrophic DFSP, giant cell fibroblastoma, and DFSP with fibrosarcomatous areas. Of all these variants, only the DFSP with fibrosarcomatous areas is high grade, with a higher rate of local recurrence and distant metastasis. DFSP is genetically characterized by the t(17;22)(q22;q13), resulting in the fusion of alpha chain type 1 of collagen gene and platelet-derived growth factor beta gene. This translocation is present in 90% of DFSP and represents a very useful tool in the differential diagnosis of DFSP with other tumors with similar histology. The standard treatment is wide local excision with at least a 2-cm margin. However, local recurrence after apparently adequate surgical excision is well recognized. Mohs micrographic surgery would be the treatment of choice with a better cure rate and maximal conservation of tissue. When surgery is insufficient, clinical evidence has suggested that imatinib mesylate is a safe and effective treatment in DFSP, especially in cases of local advanced or metastatic disease. This article presents an overview of the state of the art in the clinicopathological management of this disease.


Hirano SA, Torosky CM
Dermatofibrosarcoma protuberans arising at a Rho(D) immune globulin injection site.
Cutis. 2012; 90(5):233-4 [PubMed]
Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue tumor arising in the dermis. It is notorious for high rates of local recurrence despite its low metastatic potential. Although the etiology is unknown, DFSP often is considered to arise within scars and at sites of prior vaccination or trauma. Clinically, DFSP can be highly variable and mimic other soft tissue proliferations. We present a case of recurrent DFSP arising at the site of a Rho(D) immune globulin (Rhlg) injection that was administered 7 years prior. We also discuss the diagnostic challenges of DFSP as well as the indolent and locally recurrent nature of the tumor. This case serves to remind dermatologists of the highly variable clinical appearance of DFSP as well as to warn against presumptive diagnoses of lesions that mimic keloids and hypertrophic scars.


Qiao J, Patel KU, López-Terrada D, Fang H
Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.
Diagn Pathol. 2012; 7:166 [PubMed] Free Access to Full Article
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. VIRTUAL SLIDES: The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1249657688795311.


Zizi-Sermpetzoglou A, Savvaidou V, Fournogerakis S, et al.
Dermatofibrosarcoma protuberans of the mons pubis.
Eur J Gynaecol Oncol. 2012; 33(5):537-9 [PubMed]
Dermatofibrosarcoma protuberans (DFSP) is a rare fibrous tumor with intermediate malignant potential and in rare cases the vulva is involved. The most common clinical presentation is a firm plaque with surrounding red to blue discoloration, or less often with multiple small subcutaneous nodules. The authors present a case of a 66-year-old woman who came to the hospital complaining of longstanding painless nodules in the area of the mons pubis. On physical examination, a diffuse area of erythematous induration involving the mons pubis was recognized and within this area there were smaller nodules. The histological diagnosis was dermatofibrosarcoma protuberans. Microscopically DFSP has a storiform pattern of uniform cytologically bland spindle cells, with a characteristic honeycomb pattern of infiltration into the subcutaneous fat. Immunohistochemical staining demonstrates strong positivity for vimentin and CD34. The treatment has been through a wide local excision (WLE), although microscopic tumor projections beyond the central tumor nodule explain the tumors propensity for local recurrence.


King L, López-Terrada D, Jakacky J, et al.
Primary intrathoracic dermatofibrosarcoma protuberans.
Am J Surg Pathol. 2012; 36(12):1897-902 [PubMed]
Dermatofibrosarcoma protuberans (DFSP) is defined as a low-grade sarcoma derived from an uncertain cell of origin in the reticular dermis. We report a fibrosarcomatous variant of DFSP (FS-DFSP) that arose primarily in the deep thoracic soft tissue. The patient was a 9-year-old girl who presented with dyspnea and low-grade fevers without a clinically detectable mass or a history of skin lesion. Imaging studies revealed a 10-cm mass entirely confined within the thoracic cavity. Three years after a marginal excision with adjuvant chemotherapy and radiotherapy, the tumor recurred in the paraspinal region. Histologically, the primary and recurrent tumors comprised a high-grade spindle cell sarcoma, with a small component of storiform, low-grade, CD34-positive spindle cells, classic for an ordinary DFSP. The diagnosis of FS-DFSP was confirmed molecularly by the demonstration of a COL1A1-PDGFB fusion by fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analyses. To our knowledge, this is the first documented case of a genetically confirmed deep-seated DFSP without an associated superficial soft tissue or dermal component. The implication of this case on expanding the clinical spectrum of DFSP will have to be elucidated in future studies by applying molecular pathologic tools in deep-seated sarcomas in the proper morphologic context.


Messalli EM, D'Aponte ML, Luise R, et al.
An apparently benign vulvar mass: possibly a rare malignancy.
Eur J Gynaecol Oncol. 2012; 33(4):441-4 [PubMed]
BACKGROUND: Vulvar dermatofibrosarcoma is a rare fibrous tumor of intermediate grade malignancy, with a tendency for local recurrence, and rarely metastasizes. Management should be multidisciplinary. This is a report of an apparently benign vulvar mass with delayed diagnosis of vulvar dermatofibrosarcoma.
CASE REPORT: A 42-year-old woman was referred to our hospital because of a vulvar tumor lasting 16 years, although several gynecological procedures and a total laparoscopic hysterectomy had been performed two years before. During this long period the lesion did not change morphological features and remained asymptomatic. Only a benign vulvar mass was diagnosed. Then, the swelling became evident showing erythematous skin with an aspect of "peau d'orange", leading the patient to consult a specialist. A firm vulvar swelling was observed in the anterior third of right labia majora continuing with about 3 cm of cord on top, quite movable above the underlying tissue but not on the overlying tissue. A wide excision was performed. The pathological examination showed positive margins. One month later an extensive deeper excision was performed. Histology confirmed a diagnosis of dermatofibrosarcoma. Immunohistochemistry was strongly positive for CD34.
CONCLUSION: Vulvar lesions always require complete pathologic examination even in case of features of benign tumor to exclude a dermatofibrosarcoma. The role of the pathologist is essential to ensure negative microscopic margins and to avoid local recurrence.


Chen YT, Chen WT, Huang WT, et al.
Expression of MMP-2, MMP-9 and MMP-11 in dermatofibroma and dermatofibrosarcoma protuberans.
Kaohsiung J Med Sci. 2012; 28(10):545-9 [PubMed]
Dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) are the spindle cell mesenchymal neoplasms of the dermis and subcutis. Their histogenesis still remains uncertain and controversial. Traditionally, CD34 and factor XIIIa or other markers have been widely used to distinguish these two diseases. However, the results of these markers reveal overlapping and they lack specificity. Formalin-fixed, paraffin-embedded blocks were collected from the biopsied cases in Kaohsiung Medical University Hospital in Taiwan between 2004 and 2006. This study included 19 cases of DF and 17 cases of DFSP. Immunohistochemical analysis using antibodies CD34, matrix metalloproteinases (MMP)-2, MMP-9, and MMP-11 was performed. We found that the expression of CD34, MMP-2 and MMP-11 shows significant statistical differences in Immunohistochemistry (IHC) study positive or negative reactivity (positive of CD34 in DFSP and positive of MMP-2 and MMP-11 in DF; p=0.03, p<0.001, and p<0.001, respectively) between DF and DFSP. The result for expression of MMP-9 reveals no differences. The results indicate that the pathogenesis of DF and DFSP are affected by different expressions of extracellular matrix proteins. Metalloproteinases may play a direct role in these two diseases. Since no single marker can completely distinguish DF from DFSP, a combination of more than two or three stains may elevate the accuracy of diagnosis.


Reinstadler DR, Sinha UK
Uncommon cutaneous neoplasms of the head and neck.
Facial Plast Surg Clin North Am. 2012; 20(4):483-91 [PubMed]
This article concentrates on the less-common cutaneous malignancies such as merkel cell, atypical fibroxanthoma, malignant fibrous histiocytoma, dermatofibrosarcoma protuberans, microcystic adnexal carcinoma, and sebaceous carcinoma. The clinical and histopathologic descriptions of each, most current and emerging etiologies, diagnosis, staging, treatment, and prognosis are discussed.


Prasad V, Morris SF
Propeller DICAP flap for a large defect on the back-case report and review of the literature.
Microsurgery. 2012; 32(8):617-21 [PubMed]
Reconstruction of large soft tissue defects of the back is a challenging problem. Large defects of the back were reconstructed with multiple random pattern or local pedicled muscle (and skin graft) or musculocutaneous flaps. The clinical use of perforator flaps has demonstrated that harvesting of flaps on a single perforator is possible for reconstruction of large defects. We present a 71-year-old male with a lesion on his left mid back that measured 10 × 10 × 4 cm(3) . Biopsy of the lesion was consistent with dermatofibrosarcoma protruberans. Wide local excision of the lesion with 4 cm margin was performed. The soft tissue defect, ~20 cm in diameter, was reconstructed with a large propeller dorsal intercostal artery perforator (DICAP) flap. The DICAP flap measured 40 × 15 cm(2) based on a single perforator-lateral branch of dorsal rami of the seventh posterior intercostal artery on the right side. The perforator flap was elevated at the subfascial level and transposed 180° into the defect. The donor site on the right side of the back was closed directly. This case illustrates the size of the propeller DICAP flap that could be safely harvested on a single perforator from the dorsal rami of the posterior intercostal artery. To our knowledge this is the largest reported pedicled perforator flap harvested on a single perforator on the posterior trunk.


Foroozan M, Sei JF, Amini M, et al.
Efficacy of Mohs micrographic surgery for the treatment of dermatofibrosarcoma protuberans: systematic review.
Arch Dermatol. 2012; 148(9):1055-63 [PubMed]
OBJECTIVE To summarize evidence about the recurrence of dermatofibrosarcoma protuberans (DFSP) following Mohs micrographic surgery (MMS). DATA SOURCES MEDLINE, Cochrane Library, EMBASE, Pascal, Biosis, CisMef, BDSP, Scopus, and Web of Knowledge databases were searched for the period January 1, 1995, to August 31, 2011. Search terms were Mohs micrographic surgery, dermatofibrosarcoma protuberans, and their synonyms. No language restriction was used. STUDY SELECTION Two of us selected randomized controlled trials or nonrandomized trials comparing the recurrence of DFSP among patients undergoing MMS vs wide local excision. The search retrieved 384 references, of which 31 were reviewed in detail. DATA EXTRACTION Twenty-three nonrandomized trials (4 comparative and 19 noncomparative) were included, from which data were extracted by 2 of us independently. The methodological quality was assessed using the Cochrane Handbook for Systematic Reviews of Interventions. DATA SYNTHESIS Moderate-quality evidence (level B) was found for recurrence of DFSP after MMS (1.11%; 95% CI, 0.02%-6.03%) vs after wide local excision (6.32%, 95% CI, 3.19%-11.02%). A mean raw recurrence rate of 1.03% (95% CI, 0.37%-2.22%) was found after MMS among 19 nonrandomized noncomparative trials (low-quality evidence [level C]). The mean follow-up periods ranged from 26 to 127 months. The mean time to recurrence was 68 months. CONCLUSIONS A weak recommendation is given in favor of MMS or similar surgical techniques with meticulous histologic evaluation of all margins as the first-line therapy for DFSP, particularly in recurrence-prone regions. Attention should be given to longer than a 5-year follow-up period. High-quality trials with sufficient follow-up periods should be encouraged.


Orchard GE, Shams M
Dermatofibrosarcoma protuberans: dealing with slow Mohs procedures employing formalin-fixed, paraffin wax-embedded tissue in a busy diagnostic laboratory.
Br J Biomed Sci. 2012; 69(2):56-61 [PubMed]
Dermatofibrosarcoma protuberans (DFSP) is a relatively uncommon tumour that arises in the dermis and underlying soft tissue. Surgical removal is the preferred treatment, with relatively wide clearance margins of 3 cm or more. Slow Mohs procedures are often employed successfully to treat patients with such tumours. Slow Mohs procedures offer the benefit of improved cure rates and maximal tissue conservation. However, dealing with such tissue successfully presents the laboratory with a host of technical problems. This report advocates a set protocol to follow for slow Mohs, based on the experience acquired from dealing with 37 cases of DFSP over a 12-year period. The report establishes the benefits of slow Mohs paraffin wax-embedded tissue over frozen sections in terms of improved morphology, tissue preservation and immunocytochemical labelling with anti-CD34.


Yokoyama Y, Shimizu A, Okada E, et al.
A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans.
Biochem Biophys Res Commun. 2012; 425(2):353-6 [PubMed]
The detection of fusion transcripts of the collagen type 1α1 (COL1A1) and platelet-derived growth factor-BB (PDGFB) genes by genetic analysis has recognized as a reliable and valuable molecular tool for the diagnosis of dermatofibrosarcoma protuberans (DFSP). To detect the COL1A1-PDGFB fusion, almost previous reports performed reverse transcription polymerase chain reaction (RT-PCR) using multiplex forward primers from COL1A1. However, it has possible technical difficulties with respect to the handling of multiple primers and reagents in the procedure. The objective of this study is to establish a rapid, easy, and efficient one-step method of PCR using only a single primer pair to detect the fusion transcripts of the COL1A1 and PDGFB in DFSP. To validate new method, we compared the results of RT-PCR in five patients of DFSP between the previous method using multiplex primers and our established one-step RT-PCR using a single primer pair. In all cases of DFSP, the COL1A1-PDGFB fusion was detected by both previous method and newly established one-step PCR. Importantly, we detected a novel COL1A1 breakpoint in exon 5. The newly developed method is valuable to rapidly identify COL1A1-PDGFB fusion transcripts in DFSP.


Li X, Zhang W, Xiao L, et al.
Computed tomographic and pathological findings of dermatofibrosarcoma protuberans.
J Comput Assist Tomogr. 2012; 36(4):462-8 [PubMed]
OBJECTIVE: The aim of the study was to investigate the computed tomographic (CT) and pathological findings of dermatofibrosarcoma protuberans to improve the awareness and understanding of the tumors from aspect of CT images.
METHODS: The CT findings of 16 cases (17 tumors) with dermatofibrosarcoma protuberans confirmed by pathological findings were retrospectively selected. Fourteen cases were primary dermatofibrosarcoma protuberans, 2 cases were recurrent tumors. Thirteen patients had CT plain and enhanced scans, 1 patient had direct enhanced CT scan, 2 patients had only unenhanced scan. Images of the tumors were analyzed and compared with pathological results.
RESULTS: Of the 16 cases (17 tumors total), 9 cases were on the trunk, 7 cases were on the head and the neck; 15 cases appeared as solitary isohypodense, ovoid, or round mass at the cutaneous and subcutaneous tissue, 1 case demonstrated 2 isodense masses on unenhanced CT images. The mean diameter of tumors was 4.0 cm, and the depth was 1.7 cm. The margin was well defined (n = 15 [88.2%]) or ill defined (n = 2 [11.8%]). Fifteen tumors revealed moderate or marked homogeneous (n = 12 [80%], smaller lesion, diameter <5 cm) or heterogeneous (n = 3 [20%], larger lesion, diameter ≥5 cm) enhancement on enhanced CT with intratumoral nonenhancement areas, which indicated intratumoral necrotic and cystic degeneration areas. No calcifications and metastasis were found. The histological examinations revealed large amounts of uniform spindle cells, which were arranged in "storiform" pattern. Immunohistochemical analysis revealed samples positive for CD34 and vimentin.
CONCLUSION: The common imaging findings of dermatofibrosarcoma protuberans include a solitary, superficial, subcutaneous solid mass, various homogenous or heterogeneous enhancements due to degenerative areas. Computed tomographic scan is helpful to detect the size, location, depth and range of this tumor.


Kim M, Cho KH, Lee JH, et al.
Intratumoral mast cell number is negatively correlated with tumor size and mitosis in dermatofibrosarcoma protuberans.
Exp Dermatol. 2012; 21(7):559-61 [PubMed]
Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous tumor with intermediate malignancy. The purpose of this study was to evaluate the utility of p53, smooth muscle actin (SMA) and c-kit as immunohistochemical markers and toluidine blue staining for mast cell that can correlate with the clinical outcome and clarify role of mast cells in pathogenesis of tumor. We analysed data for 32 lesions from 31 patients. Fibrosarcomatous type DFSP showed high immunoreactivity for SMA compared with other subtypes (P = 0.026). No differences in p53 immunoreactivity were observed between subtypes. None of tumor cells were immunoreactive with c-kit. The mast cell counts showed a negative correlation with mitosis and tumor size (P < 0.05), implying that mast cells do not have a causative primary role in tumorigenesis but rather play a secondary role.


Kuzel P, Metelitsa AI, Dover DC, Salopek TG
Epidemiology of dermatofibrosarcoma protuberans in Alberta, Canada, from 1988 to 2007.
Dermatol Surg. 2012; 38(9):1461-8 [PubMed]
BACKGROUND: There have only been a few population-based, epidemiologic studies assessing dermatofibrosarcoma protuberans (DFSP).
OBJECTIVE: To assess the epidemiology of DFSP in Alberta, Canada, over a 20-year period.
METHODS: A population-based, retrospective analysis of all cases of DFSP in Alberta was conducted using data from the Alberta Cancer Registry. Sex-, age-, and anatomical location-specific incidence rates and trends were determined.
RESULTS: The overall age-standardized incidence rate of DFSP remained stable at 0.93 per 100,000. DFSP prevalence was highest in individuals aged 20 to 39 (46.8%), followed by those aged 40 to 59 (34.0%), 60 and older (14.7%), and lastly younger than 20 (4.5%). The mean age at diagnosis was 41.1 (women) and 43.1 (men). The incidence of DFSP in men and women has shown a dramatic shift such that incidence in women has increased 3.2% per year, whereas in men it has decreased 2.7% per year. In women, DFSP incidence increased on the trunk and decreased on the upper extremities.
CONCLUSION: The age-standardized incidence of DFSP observed is nearly twice as high as previously reported and has remained stable. The incidence is increasing in women and decreasing in men. DFSP primarily affects young to middle-aged adults and most commonly presents on the trunk.


Irarrazaval I, Redondo P
Three-dimensional histology for dermatofibrosarcoma protuberans: case series and surgical technique.
J Am Acad Dermatol. 2012; 67(5):991-6 [PubMed]
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a low-grade malignant skin tumor that may also infiltrate dermis and subcutaneous tissue. Although the mainstay of treatment has been wide local excision, during the last decade three-dimensional (3D) histology surgery has proven very effective for the treatment of this tumor.
OBJECTIVE: We sought to evaluate the effectiveness of 3D histology surgery for the treatment of DFSP.
METHODS: We retrospectively reviewed charts of patients with DFSP treated in our unit with 3D histology surgery between April 2000 and May 2011. Age at onset, gender, duration of tumor, previous treatment, lesion site, number of surgical stages, postsurgical defect size, closure technique, and follow-up were registered.
RESULTS: A total of 29 patients were included. Mean patient age was 40.7 years. Fifteen lesions were located on the trunk, 11 on the extremities, and 3 in the head and neck region. Twelve patients had primary tumors and 17 were referred to us after incomplete excision. The average number of 3D histology surgical stages required for tumor clearance was 1.4. Mean postsurgical defect size was 26 cm(2). All lateral and deep borders excised were tumor-free. Mean follow-up period was 68 months (range 12-142 months) with a 0% recurrence rate.
LIMITATIONS: This was a retrospective review.
CONCLUSION: Three-dimensional histology surgery with paraffin sections is effective for the treatment of DFSP and feasible in an outpatient setting. The low recurrence rates obtained confirm the oncologic efficacy of the procedure. Furthermore, designing closure on the basis of focally affected margins improves functional and aesthetic outcomes without compromising oncological effectiveness.


Mori S, Di Monta G, Marone U, et al.
Half forehead reconstruction with a single rotational scalp flap for dermatofibrosarcoma protuberans treatment.
World J Surg Oncol. 2012; 10:78 [PubMed] Free Access to Full Article
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a soft tissue neoplasm of intermediate to low-grade malignancy. Although metastasis rarely occurs, DFSP has a locally aggressive behavior with a high recurrence rate. In the head and neck area, resection involving a wide margin of healthy tissue can be difficult because of functional and cosmetic considerations. We describe a novel reconstructive method for half forehead defects with an innovative single local wide scalp flap following excision of DFSP with a 3 cm margin of healthy tissue.
METHODS: Two patients underwent wide resection of forehead DFSP and reconstruction with a single rotational scalp flap. The scalp flap blood supply was provided from three main vessels: the superficial temporal artery, occipital artery and posterior auricular artery.
RESULTS: No early or late complications were observed in either patient with no local recurrence after 18 months of follow-up. The donor area could be closed primarily in both cases and the flaps survived completely.
CONCLUSION: This innovative technique allowed a radical excision of forehead DFSP with sufficient healthy margins, thus potentially decreasing tumor recurrence rate. Reconstruction was achieved avoiding microsurgery, skin expanders and large skin grafts. Moreover, all main reconstructive criteria, such as functional and cosmetic tissue characteristics, were completely fulfilled.


Takano EA, Rogers TM, Young RJ, et al.
The molecular characterisation of unusual subcutaneous spindle cell lesion of breast.
J Clin Pathol. 2012; 65(8):746-50 [PubMed]
BACKGROUND: Spindle cell lesions of the breast represent an interesting diagnostic challenge as they comprise a wide range of tumours that are rare. Differentiating dermatofibrosarcoma protuberans (DFSP) from other dermatofibromas using CD34 immunohistochemistry alone is difficult; therefore, fluorescence in situ hybridisation (FISH) analysis is often employed to identify typical COL1A1-PDGFB fusion or gene rearrangement. Although molecular confirmation of diagnosis is unnecessary in the majority of DFSP cases, the detection of chromosomal rearrangement is valuable in tumours that show unusual clinicopathological features as in this study the authors report a case of DFSP of breast that did not show any typical known molecular features.
METHODS AND RESULTS: Morphological and immunohistochemical study was highly suggestive of the diagnosis of DFSP. To further investigate this case, DNA copy number alterations were investigated by the 250 K Affymetrix SNP Mapping array. DNA analysis did not show any of the known translocations reported in DFSP or any known solid tumour category. However, in addition to copy number changes on chromosome 1, amplification of chromosome 7p which contains the epidermal growth factor receptor (EGFR) gene was observed. Results from EGFR FISH showed an increase in EGFR gene to chromosome 7 ratio (3:1) suggesting amplification of the EGFR gene.
CONCLUSION: This case of an unusual DFSP demonstrates that genomic interrogation provides additional potential targets such as a therapeutic avenue with anti-EGFR therapies and shows the power of molecular characterisation of unusual tumours for a personalised medicine approach.


Malhotra B, Schuetze SM
Dermatofibrosarcoma protruberans treatment with platelet-derived growth factor receptor inhibitor: a review of clinical trial results.
Curr Opin Oncol. 2012; 24(4):419-24 [PubMed]
PURPOSE OF REVIEW: Dermatofibrosarcoma protuberans (DFSP) is a rare mesenchymal neoplasm arising in the dermis, accounting for less than 0.1% of all cancers. Given its rarity, and paucity of randomized trials, the nuances of treatment are not widely understood. In this review we attempt to summarize the available data to guide treatment choices for physicians managing this disease.
RECENT FINDINGS: DFSP carries a translocation of chromosomes 17 and 22 leading to juxtaposition of the collagen type-1α1 promoter to the platelet-derived growth factor (PDGF) gene. This results in unregulated expression of PDGF leading to autocrine or paracrine activation of its receptor (PDGFRβ). This molecular pathway is the target of our current drug therapy for DFSP, imatinib, a tyrosine kinase inhibitor that interferes with the phosphorylation and activation of PDGFRβ. In case reports and prospective studies, imatinib was noted to be an effective treatment for patients with unresectable or metastatic DFSP, associated with response rates approaching 50%. It has also been used preoperatively to improve the resectability of tumors. Since metastasis is rarely seen and local recurrences are uncommon following wide excision with pathologically negative margins, surgery remains the backbone of treatment.
SUMMARY: Imatinib, a tyrosine kinase inhibitor, is the current preferred agent for treatment of unresectable or metastatic DFSP. Clinical trials evaluating broader-spectrum kinase inhibitors such as pazopanib are in development.


Buck DW, Kim JY, Alam M, et al.
Multidisciplinary approach to the management of dermatofibrosarcoma protuberans.
J Am Acad Dermatol. 2012; 67(5):861-6 [PubMed]
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is the most common cutaneous sarcoma. Tentacle-like extensions of neoplastic cells create a high incidence of local recurrence and pose challenges to resection and reconstruction.
OBJECTIVE: Here we present a multidisciplinary approach to the management of DFSP incorporating the expertise of a Mohs micrographic surgeon, surgical oncologist, dermatopathologist, and plastic surgeon.
METHODS: This was a single-institution, retrospective review of a prospectively maintained database of 19 consecutive patients who underwent resection and reconstruction of a DFSP from 1998 to 2010. All patients underwent Mohs micrographic surgery for mapping of peripheral margins (stage I excision), followed by wide local excision for delineation of the deep margin (stage II excision). Procedures were performed in consultation with a dermatopathologist who confirmed tumor-free margins, and a plastic surgeon who performed immediate reconstruction after the wide local excision (stage II reconstruction).
RESULTS: Nineteen patients were included in this study. The average number of Mohs stages required for clearance of peripheral margins was 2.7 ± 0.7. The mean time between stage I and II procedures was 16 ± 11 days. The average defect size after the stage II operation was 87.3 cm(2) (range, 9-300 cm(2)). There were no cases of tumor recurrence. Mean follow-up time was 17 months (range, 1-53 months).
LIMITATIONS: This is a retrospective review of a single-institution experience.
CONCLUSION: A multidisciplinary approach to the management of DFSP optimizes both oncologic and reconstructive outcomes, minimizing the risk for local recurrence and limiting the functional and cosmetic morbidity associated with surgical resection.


Shvartsbeyn M, Lazar AJ, Lopez-Terrada D, Meehan SA
Pseudocystic dermatofibrosarcoma protuberans: report of two cases and demonstration of COL1A1-PDGFB rearrangement.
J Cutan Pathol. 2012; 39(3):356-60 [PubMed]
We report two unique cases of dermatofibrosarcoma protuberans (DFSP) that included a pseudocystic component. Molecular analysis of one of the cases showed a characteristic COL1A1-PDGFB rearrangement in both the main tumor and also in the cells lining the pseudocystic portion of the tumor, confirming the diagnosis and indicating that the lining represented a component of the proliferation. It is important to raise awareness of this rare variant within the varied spectrum of DFSP. Shvartsbeyn M, Lazar AJF, Lopez-Terrada D, Meehan SA. Pseudocystic dermatofibrosarcoma protuberans: report of two cases and demonstration of COL1A1-PDGFB rearrangement.


Tantcheva-Poor I, Marathovouniotis N, Kutzner H, Mentzel T
Vascular congenital dermatofibrosarcoma protuberans: a new histological variant of dermatofibrosarcoma protuberans.
Am J Dermatopathol. 2012; 34(4):e46-9 [PubMed]
We describe a case of congenital dermatofibrosarcoma protuberans (DFSP) that masqueraded as a vascular tumor both clinically and histologically. Based on the infiltrative growth pattern, presence of capillary-sized vessels, and spindle cell areas with slit-like vascular spaces and numerous thin-walled vessels at the periphery of the tumor, a kaposiform hemangioendothelioma was initially diagnosed. Strong diffuse CD34 positivity and the extension into the subcutaneous fat with a sieve-like effect prompted the fluorescence in situ hybridization analysis, which demonstrated a reciprocal t(17;22) translocation. According to our knowledge, this is the first report of a vascular histological variant of DFSP. This unique variant represents a potential pitfall for dermatopathologists and underlines the importance of cytogenetic diagnostics in unusual cases of DFSP.


Galimberti G, Montaño AP, Kowalczuk A, et al.
Outcomes in 11 patients with dermatofibrosarcoma protuberans treated with Mohs micrographic surgery.
Int J Dermatol. 2012; 51(1):89-93 [PubMed]
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon intermediate-grade fibrohistiocytic sarcoma. It occurs most often in adults aged 20-50 years and is associated with local invasion and a high recurrence rate. Uncontrolled local disease or metastases may result in death. Treatment has involved wide excision, Mohs micrographic surgery (MMS) and other approaches. The purpose of the current study was to review our experience with MMS in the treatment of patients with DFSP over the past six years.
METHODS: We carried out a retrospective chart review for all patients treated with MMS at the Hospital Italiano de Buenos Aires during a six-year period to October 2009. Patient data included age and sex, site, and prior surgical treatment (if any) of the tumor and details of the Mohs procedure.
RESULTS: Eleven patients were treated for DFSP. Four (36.4%) patients had been previously treated with a standard wide excision. Three (27.3%) of the 11 tumors were located on the back, four (36.4%) on the upper extremity, one (9.1%) on the lower extremity, and three (27.3%) on the trunk. Mean lesion size at presentation was 5.16 cm(2), and mean defect size was 12.65 cm(2), yielding a difference of 7.49 cm(2) and a ratio (defect size/lesion size) of 2.45. No tumors recurred after MMS.
CONCLUSIONS: The recurrence potential of DFSP is directly related to the extent of resection. Mohs micrographic surgery with continuous histological margin control allows for maximum tissue preservation and low recurrence rates and is rapidly emerging as a first-line treatment modality for this condition.


Kontzoglou K, Stamatakos M, Polyzou E, et al.
Dermatofibrosarcoma: a rare form of soft tissue. Management and review of the literature.
Chirurgia (Bucur). 2011 Sep-Oct; 106(5):653-6 [PubMed]
Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue tumor of cutaneous origin of intermediate grade malignant potential. The incidence of DFSP is 0.1% of all cancers and 1% of all soft tissue sarcomas. We present the case of a 65years old female with a palpable, painful mass on the right thigh. A surgical excision of the lesion was done and the histopathology, as well as the immunohistochemical analysis with CD-34, confirmed the diagnosis of DFSP. Two years later, the patient is free of disease and no local recurrences or metastases have been found. Wide radical excision is the preferred surgical method for therapy of DFSP without distant metastasis. Furthermore, DFSP resists to conventional chemotherapy and radiation therapy, while, in cases of metastasis, therapy depends on cytogenesis and molecular biology of the tumor, so new therapeutic strategies are under research.


Kesserwan C, Sokolic R, Cowen EW, et al.
Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency.
J Allergy Clin Immunol. 2012; 129(3):762-769.e1 [PubMed] Free Access to Full Article
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare malignant skin tumor associated with a characteristic chromosomal translocation (t[17;22][q22;q13]) resulting in the COL1A1-platelet-derived growth factor β(PDGFB) fusion gene. This malignancy is rarely diagnosed in childhood.
OBJECTIVE: We observed an unexpected high incidence of this DFSP in children affected with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) and set out to evaluate the association of these 2 clinical entities.
METHODS: Twelve patients with ADA-SCID were evaluated with a complete dermatologic examination and skin biopsy when indicated. Conventional cytogenetic and molecular analyses (fluorescence in situ hybridization, RT-PCR, or both) were performed when possible.
RESULTS: Eight patients were found to have DFSP. Six patients had multicentric involvement (4-15 lesions), primarily of the trunk and extremities. Most lesions presented as 2- to 15-mm, round atrophic plaques. Nodular lesions were present in 3 patients. In all cases CD34 expression was diffusely positive, and diagnosis was confirmed either by means of cytogenetic analysis, molecular testing, or both. The characteristic DFSP-associated translocation, t(17;22)(q22;q13), was identified in 6 patients; results of fluorescence in situ hybridization were positive for fusion of the COL1A1 and PDGFB loci in 7 patients; and RT-PCR showed the COL1A1-PDGFB fusion transcript in 6 patients.
CONCLUSIONS: We describe a previously unrecognized association between ADA-SCID and DFSP with unique features, such as multicentricity and occurrence in early age. We hypothesize that the t(17;22)(q22;q13) translocation that results in dermal overexpression of PDGFB and favors the development of fibrotic tumors might arise because of the known DNA repair defect in patients with ADA-SCID. Although the natural course of DFSP in the setting of ADA-SCID is unknown, this observation should prompt regular screening for DFSP in patients with ADA-SCID.


Thum C, Hollowood K, Birch J, et al.
Aberrant Melan-A expression in atypical fibroxanthoma and undifferentiated pleomorphic sarcoma of the skin.
J Cutan Pathol. 2011; 38(12):954-60 [PubMed]
BACKGROUND: Atypical fibroxanthoma (AFX) is a distinctive clinicopathologic entity presenting on sun-damaged skin of the elderly. Its behavior is benign if strict diagnostic criteria are applied. Tumors showing invasion of deeper structures or perineural/lymphovascular invasion are best regarded as undifferentiated pleomorphic sarcoma of the skin. The diagnosis requires immunohistochemical studies to exclude melanoma, squamous cell carcinoma, angiosarcoma and leiomyosarcoma.
METHODS: Two AFX and one undifferentiated pleomorphic sarcoma showing aberrant expression of Melan-A were identified. Clinical data were obtained and histopathological features, immunohistochemical profile and electron microscopy were assessed.
RESULTS: All tumors arose on sun-damaged skin of elderly males. Two AFX showed pushing growth into superficial subcutis only. The undifferentiated pleomorphic sarcoma was characterized by infiltrative growth into galea as well as perineural invasion. Multifocal expression of Melan-A and MART-1 was largely limited to tumor giant cells in the absence of S100 or HMB-45 labeling. No melanosomes or premelanosomes were identified by electron microscopy.
CONCLUSIONS: Aberrant expression of Melan-A and MART-1 in AFX and undifferentiated pleomorphic sarcoma of the skin represents an important diagnostic pitfall with potential for misdiagnosis as melanoma.


Suzuki D, Kobayashi R, Yasuda K, et al.
Congenital dermatofibrosarcoma protuberans in a newborn infant with a massive back tumor: favorable effects of oral imatinib on the control of residual tumor growth.
J Pediatr Hematol Oncol. 2011; 33(7):e304-6 [PubMed]
Dermatofibrosarcoma protuberans (DFSP) is known as a very rare malignant tumor of the deep dermis and subcutaneous tissue. It typically develops during adolescence and adulthood, with pediatric and infantile cases, particularly congenital ones, being much less frequent. We report a neonate with congenital DFSP. A newborn girl presented with a massive back tumor at birth. The tumor was at first suspected to be infantile fibrosarcoma (IFS) after immunohistochemical analysis of biopsy material, although the results were not fully compatible with IFS. She received chemotherapy under a tentative diagnosis of IFS, but this was unsuccessful. Partial resection was therefore performed at the age of 8 months to reduce the tumor mass and to reexamine its immunohistochemical characteristics. Positive CD34 staining and Collagen α1α/platelet-derived growth factor beta chimera gene signals on analysis of the excised tumor tissues enabled a definitive diagnosis of DFSP. She then underwent local irradiation and was given a daily dose of oral tyrosine kinase inhibitor (imatinib). After almost 1 year, the patient is doing well without enlargement of the residual tumor.


Austin SA, Hawkshaw MJ, Sataloff RT
External ear sarcoma: a review of the Surveillance Epidemiology and End Result (SEER 17) database.
Ear Nose Throat J. 2011; 90(8):348-58 [PubMed]
Soft-tissue sarcomas arising in the skin of the external ear have a better prognosis than might be expected based on the behavior of other sarcomas. Currently there are a few major case series analyzing soft-tissue sarcomas and the factors related to their prognosis. The purpose of this study was to determine the behavior of these tumors and attempt to define factors affecting prognosis. We extracted data from the Surveillance Epidemiology and End Result (SEER) 17 Registry and identified a total of 297 patients with sarcoma of the external ear who were included in the registry from 1973 to 2004. Of these, 176 (59.3%) patients were diagnosed with malignant fibrous histiocytoma. Dermatofibrosarcoma was the second most prevalent soft-tissue sarcoma (56 patients; 18.9%), followed by leiomyosarcoma (27 patients; 9.1%). The overall 5-year survival rate of patients with all histologic types of STS of the external ear was 78.5%.


Reddy KK, Hanke CW, Tierney EP
Malignancy arising within cutaneous tattoos: case of dermatofibrosarcoma protuberans and review of literature.
J Drugs Dermatol. 2011; 10(8):837-42 [PubMed]
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon tumor of the skin with high rates of local recurrence. Several reports describe a frequent history of local trauma. In one prior case, a DFSP arising in a tattoo site has been reported. Mohs micrographic surgery (MMS) has been used successfully for treatment.
OBJECTIVE: To present a case of dermatofibrosarcoma protuberans arising in the site of a prior and current tattoo, and treated with Mohs micrographic surgery.
METHODS: We present findings of a case of a DFSP arising in a tattoo and a review of Medline literature on the association between tattoos and cutaneous malignancy, and treatment of DFSP with MMS.
RESULTS: Review of the literature confirms multiple reports of DFSP arising in sites of local trauma, as well as malignancies arising in sites of tattoos. The recurrence rate for MMS treatment of DFSP (0-6.6%) was found to be significantly lower than that for patients treated with wide local excision (13% to 95%).
CONCLUSIONS: DFSP should be considered in the differential diagnosis of neoplasms arising within areas of tattoos. Sites of local trauma and tattoos may show predilection for benign and malignant changes and should be evaluated during regular skin exams. Review of the literature confirms MMS is an ideal treatment modality for DFSP as the tumor often extends far beyond clinical margins.


This page last updated: 22nd May 2013
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