Dermatofibrosarcoma Protuberans
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Latest Research Publications

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

Kokkinos C, Sorkin T, Powell B
To Mohs or not to Mohs.
J Plast Reconstr Aesthet Surg. 2014; 67(1):23-6 [PubMed] Related Publications
BACKGROUND: The preferred method of treatment of Dermatofibrosarcoma Protuberance (DFSP) is surgery. Clear margins are achieved by wide local excision (WLE) or by Mohs micrographic surgery. Mohs surgery and reconstruction always requires two or more procedures. This study aims to assess the ability of WLE to accomplish clear histopathological margins and low recurrence rate with a single procedure. We present our results from ten years experience of wide local excision.
METHODS: This is a retrospective analysis of data of all cases of DFSP treated with WLE by a single operator in our department between 2002 and 2012.
RESULTS: Twenty patients were identified. The surgical excision and reconstruction were performed on the same day in all cases. The mean histological peripheral margin was 17 mm and the deep 9 mm. There was no incomplete excision and no recurrence recorded. There were no postoperative complications or tumour recurrences reported for an average period of 5.6 years follow-up.
CONCLUSION: Mohs surgery offers clear histological margins but requires multiple patient visits to achieve complete excision and later reconstruction. We show that WLE can achieve these in one procedure, the excision margins making little difference when planning the eventual reconstruction.

Related: Skin Cancer


Pallure V, Dupin N, Guillot B,
Surgical treatment of Darier-Ferrand dermatofibrosarcoma: a systematic review.
Dermatol Surg. 2013; 39(10):1417-33 [PubMed] Related Publications
BACKGROUND: Wide-excision surgery is required in Darier-Ferrand dermatofibrosarcoma protuberans, but there is no consensus regarding the lateral margins.
MATERIALS AND METHODS: We performed a systematic review based on a MEDLINE search of articles, published from 1994 to 2009 to determine the optimal procedure to avoid recurrences and treatment morbidity.
RESULTS: The analyzed articles included five meta-analyses of retrospective studies; three prospective, nonrandomized studies; and 35 retrospective studies.
DISCUSSION: Positive deep margins may lead to a recurrence independent of lateral margin status. Despite an absence of formal evidence, wide excision with 3-cm margins appears to result in significantly less risk of a recurrence than surgery using <3-cm margins. Negative histologic margins appear to be the best criterion to decrease recurrence. Despite a lack of strong data, there was a marked tendency of Mohs micrographic surgery (MMS) to produce better results than conventional surgery. If MMS is unavailable, surgery using 3-cm lateral margins and a disease-free anatomic zone deep into the lesion is proposed. Slow Mohs could be a safe alternative to MMS when the latter technique is not available. Patients should be followed for a minimum of 10 years and preferably indefinitely.


Ali NS, Kazi M, Umar B, Khan MJ
Dermatofibrosarcoma protuberans: an unusual case of neck swelling.
J Pak Med Assoc. 2012; 62(10):1089-91 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a relatively intermediate to low grade malignant tumour with high proclivity for local recurrence if excised inadequately. It is a locally aggressive tumour and despite sharing some histological features with fibrohistiocytic tumours, it tends to grow in a more infiltrative manner. We are reporting this rare tumour in a 30-year-old woman where the diagnosis of DFSP was confirmed histologically and by positive immunomarkers at immunohistochemistry.

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Castle KO, Guadagnolo BA, Tsai CJ, et al.
Dermatofibrosarcoma protuberans: long-term outcomes of 53 patients treated with conservative surgery and radiation therapy.
Int J Radiat Oncol Biol Phys. 2013; 86(3):585-90 [PubMed] Related Publications
PURPOSE: To evaluate outcomes of conservative surgery and radiation therapy (RT) treatment in patients with dermatofibrosarcoma protuberans.
METHODS AND MATERIALS: We retrospectively reviewed the medical records of 53 consecutive dermatofibrosarcoma protuberans patients treated with surgery and preoperative or postoperative radiation therapy between 1972 and 2010. Median tumor size was 4 cm (range, 1-25 cm). Seven patients (13%) were treated with preoperative RT (50-50.4 Gy) and 46 patients (87%) with postoperative RT (60-66 Gy). Of the 46 patients receiving postoperative radiation, 3 (7%) had gross disease, 14 (30%) positive margins, 26 (57%) negative margins, and 3 (7%) uncertain margin status. Radiation dose ranged from 50 to 66 Gy (median dose, 60 Gy).
RESULTS: At a median follow-up time of 6.5 years (range, 0.5 months-23.5 years), 2 patients (4%) had disease recurrence, and 3 patients (6%) had died. Actuarial overall survival was 98% at both 5 and 10 years. Local control was 98% and 93% at 5 and 10 years, respectively. Disease-free survival was 98% and 93% at 5 and 10 years, respectively. The presence of fibrosarcomatous change was not associated with increased risk of local or distant relapse (P=.43). One of the patients with a local recurrence had gross residual disease at the time of RT and despite RT to 65 Gy developed both an in-field recurrence and a nodal and distant recurrence 3 months after RT. The other patient with local recurrence was found to have in-field recurrence 10 years after initial treatment. Thirteen percent of patients had an RT complication at 5 and 10 years, and 9% had a moderate or severe complication at 5 and 10 years.
CONCLUSIONS: Dermatofibrosarcoma protuberans is a radioresponsive disease with excellent local control after conservative surgery and radiation therapy. Adjuvant RT should be considered for patients with large or recurrent tumors or when attempts at wide surgical margins would result in significant morbidity.

Related: Skin Cancer


Ishigami T, Hida Y, Matsudate Y, et al.
The involvement of fibroblast growth factor receptor signaling pathways in dermatofibroma and dermatofibrosarcoma protuberans.
J Med Invest. 2013; 60(1-2):106-13 [PubMed] Related Publications
Fibroblast growth factors (FGFs) and their receptors (FGFRs) control a wide range of biological functions; however, their involvement in the pathogenesis of dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) is currently unknown. In this study, we first confirmed the histological diagnosis by detecting fusion COL1A1-PDGFB transcripts in DFSP, and examined the expression of all FGFRs (FGFR1-4), some of their ligands (FGF1, 2, 9), and forkhead box N1 (FOXN1) as a downstream target of FGFR3 in DF and DFSP by immunohistochemical analysis. Although we failed to detect the expression of FGF1 and FGF9 as specific ligands for FGFR3 in DF, overexpression of FGFR3 and FOXN1 was observed in the epidermal regions of DF, suggesting that the epidermal regions of DF were similar to seborrhoeic keratosis both in terms of histological features and the activation of FGFR3/FOXN1. In addition, strong expression of FGF2 and FGFR4 was observed in the tumor lesions of DF. Expression patterns of FGFR3/FOXN1 and FGF2/FGFR4 in DF were in contrast with those of DFSP. The activation of FGFR signaling pathways may be not only relevant to the pathogenesis of DF, but also very useful in the differential diagnosis of DF and DFSP.

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Uysal B, Sager O, Gamsiz H, et al.
Evaluation of the role of radiotherapy in the management of dermatofibrosarcoma protuberans.
J BUON. 2013 Jan-Mar; 18(1):268-73 [PubMed] Related Publications
PURPOSE: The aim of this study was to evaluate the role of radiotherapy (RT) in the management of dermatofibrosarcoma protuberans (DFSP).
METHODS: Twenty-eight patients treated with RT for DFSP between 1974 and 2012 at Gulhane Military Medical Academy (GMMA) Radiation Oncology Department were retrospectively evaluated. Twenty-five out of 28 patients (89%) received postoperative RT and 3 received definitive RT alone. In the 25 patients receiving postoperative RT, the type of surgical excision was limited excision in 5 patients and wide excision in the remaining 20. Median RT dose was 63.21±3.7 Gy (range 50-70).
RESULTS: At a median follow-up of 5 years, 5-year overall survival (OS) for the whole patient group was 93%. No relationship was determined between the total delivered RT dose and OS. The 5-year OS of the 10 female patients was 90% whereas it was 94% for the 18 male patients (p>0.05). Five-year disease-free survival (DFS) for the patients undergoing wide excision with RT vs. those undergoing limited excision with RT was significantly superior (p <0.05) in patients treated with wide excision and RT.
CONCLUSION: RT is an effective treatment option for DFSP patients with positive postoperative margins, recurrent disease and selected inoperable cases.

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Riouallon G, Larousserie F, Pluot E, Anract P
Superficial myxofibrosarcoma: assessment of recurrence risk according to the surgical margin following resection. A series of 21 patients.
Orthop Traumatol Surg Res. 2013; 99(4):473-7 [PubMed] Related Publications
INTRODUCTION: Superficial myxofibrosarcomas are malignant connective tissue tumors, whose very frequent recurrence influences the local and vital prognosis. Even when resection seems to be macroscopically complete it is very often microscopically contaminated. The aim of this study was to evaluate recurrence in relation to the surgical margins and to compare, when possible, tumor size, evaluated clinically and macroscopically by the pathologist.
MATERIALS AND METHODS: This was a single center study of 21 patients, mean age 67 years old, treated for superficial myxofibrosarcoma. The number, date and location of recurrence were collected for each patient. A clinical and pathological measurement was made of the longest axis of the tumor in each case of recurrence.
RESULTS: Fifty-seven percent of patients presented with recurrent tumors. The mean number of recurrences was 1.4 per patient (1-8). The surgical margins were wide in four cases, marginal in two cases and incomplete/intralesional in 15 other patients with a rate of recurrence of 25, 50 and 67% respectively. The size evaluated during the preoperative clinical examination (14 cases) was underestimated by a mean 2.4 cm compared to the macroscopic pathology assessment. The preoperative size on MRI (5 cases) was also underestimated by a mean 1.3 cm.
CONCLUSION: Superficial myxofibrosarcomas are tumors that are difficult to resect completely because they are infiltrative, a feature that is often underestimated before surgery. Surgical treatment of this entity requires a much larger surgical margin than that suggested by the preoperative clinical and MRI evaluations. In case of incomplete resection, revision scar surgery should systematically be performed.
LEVEL OF EVIDENCE: Level IV. Retrospective study.

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Fejjal N, Hafidi J, Belmir R, et al.
Two-stage free latissimus dorsi flap: a safe strategy for reconstruction of large defects of the abdominal wall.
J Plast Surg Hand Surg. 2013; 47(3):232-3 [PubMed] Related Publications
We report a case of full abdominal wall reconstruction after resection of a dermatofibrosarcoma protuberans. The treatment comprised wide resection with a 5 cm peripheral margin and deep resection to a disease-free anatomical structure. The reconstruction was done in two-stages with a free latissimus dorsi flap.


Ong HS, Ji T, Wang LZ, et al.
Dermatofibrosarcoma protuberans on the right neck with superior vena cava syndrome: case report and literature review.
Int J Oral Maxillofac Surg. 2013; 42(6):707-10 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is an uncommon dermal soft tissue tumour of intermediate malignancy. A 44-year-old man presented to the hospital with a large lesion on the right upper chest and neck. Despite eight previous surgical excisions, the tumour had continued to recur. Contrast-enhanced computed tomography showed recurrence of the tumour, associated with superior vena cava (SVC) syndrome. He declined radical surgical resection of the recurrent tumour, which may have required right upper limb amputation. Targeted therapy with sunitinib malate was therefore introduced. This case demonstrates the recurrent nature of DFSP and the association of this lesion on the upper chest/neck with SVC syndrome. Primary wide radical resection is essential for better local control and to avoid the development of SVC syndrome.

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Manganoni AM, Pavoni L, Gualdi G, et al.
Dermatofibrosarcoma protuberans in an adolescent: a case report and review of the literature.
J Pediatr Hematol Oncol. 2013; 35(5):383-7 [PubMed] Related Publications
Classically, dermatofibrosarcoma protuberans (DFSP) is a disease of adults. The world literature revision shows that several pediatric cases have been reported so far; this might suggest that the number of infants with the condition might be larger than that estimated previously. Here, we report the 183rd case of histologically confirmed DFSP in young age. A 14-year-old white male patient came under our care for a slowly growing, pale brownish lesion on the neck skin. A biopsy specimen showed a DFSP. Subsequently, a wide surgery excision with 3 cm of resection margins including the underlying fascia was performed. To date, the patient has been in follow-up for 6 years without evidence of recurrent disease. The clinical features and treatment of DFSP diagnosed in childhood and adolescence reported in the published literature are reviewed to provide new insights about this rare entity. The aim is to emphasize the importance of biopsy for histologic evaluation in the cases that show a persistent or a large cutaneous plaque or nodule without pathognomonic clinical features that permit a clinical diagnosis. An accurate knowledge of the disease is the prerequisite for a wider recognition and appropriate treatment.

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Schittkowski MP, Wrede A
Dermatofibrosarcoma protuberans with primary orbital manifestation.
Orbit. 2013; 32(2):117-9 [PubMed] Related Publications
A 45-year-old, otherwise healthy woman presented with mild epiphora and a palpable mass in the lacrimal sac area. After transcutaneus orbitotomy and complete excision histopathology revealed a primary Dermatofibrosarcoma protuberans invading the orbit. During the 24-months follow-up, no recurrence occurred. To the best of our knowledge this is the first report of a primary DFSP with the orbit involved.

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Wicherts DA, van Coevorden F, Klomp HM, et al.
Complete resection of recurrent and initially unresectable dermatofibrosarcoma protuberans downsized by Imatinib.
World J Surg Oncol. 2013; 11:59 [PubMed] Free Access to Full Article Related Publications
Curative surgical treatment of recurrent, locally advanced dermatofibrosarcoma protuberans is often limited owing to a close relation of the tumor with important anatomical structures. Targeted therapy with imatinib, a tyrosine kinase inhibitor, may cause significant reduction of tumor volume, thereby enabling radical surgery. This treatment strategy, therefore, offers a chance of cure for selected patients with advanced dermatofibrosarcoma protuberans. In addition, preoperative treatment with imatinib may decrease possible disfigurement related to radical surgery for large tumors.

Related: Skin Cancer Imatinib (Glivec)


Bernard J, Poulalhon N, Argenziano G, et al.
Dermoscopy of dermatofibrosarcoma protuberans: a study of 15 cases.
Br J Dermatol. 2013; 169(1):85-90 [PubMed] Related Publications
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare malignant cutaneous tumour of which diagnosis is often delayed because of the lack of early clinical clues.
OBJECTIVES: To describe the main dermoscopic features of DFSP.
METHODS: We performed dermoscopic examination in 15 unselected, consecutive cases of biopsy-proven DFSP. Firstly, six dermoscopic features were identified collegially, then all cases were reviewed separately by six experienced dermoscopists. In a given lesion, features recognized only by all dermoscopists were taken into account.
RESULTS: The median number of dermoscopic features was four per lesion. The following dermoscopic features were found: delicate pigmented network (87%), vessels (80%), structureless light brown areas (73%), shiny white streaks (67%), pink background coloration (67%) and structureless hypo- or depigmented areas (60%). When detected, vessels were of arborizing type in 11 of 12 cases, and presented as either unfocused only, or both unfocused and focused.
CONCLUSIONS: This first study of the dermoscopic spectrum of DFSP identifies six dermoscopic features (often associated in a multicomponent pattern) and a peculiar vascular pattern. Whether dermoscopy can help to identify suspected DFSP remains to be established by further studies.

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Rahman T, Bhattacharjee K, Sarma JD, et al.
Primary dermatofibrosarcoma protuberans of orbit--a rare entity.
Orbit. 2013; 32(2):127-9 [PubMed] Related Publications
Primary Dermatofibrosarcoma Protuberance (DFSP) is a rare neoplasm of dermal origin. Though it is a locally aggressive tumor with high recurrence rate, however distant metastasis can also occur. Orbital DFSP is an uncommon phenomenon. It has been reported due to distant metastasis or invasion from adjacent structures but Primary Orbital DFSP is a unique entity in itself. Herein we report a rare case of primary DFSP of the orbit in a 70-year- old lady who underwent orbital exenteration. Histopathology examination (HPE) revealed spindle cells arranged in storiform pattern and immunohistochemistry (IHC) revealed CD34 positive and S100 negative.

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Barysch MJ, Weibel L, Neuhaus K, et al.
Dermatofibrosarcoma protuberans in childhood treated with slow Mohs micrographic surgery.
Pediatr Dermatol. 2013 Jul-Aug; 30(4):462-8 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) in childhood is a rare tumor with high recurrence rates. Wide local excision can result in disfiguring mutilation, whereas Mohs micrographic surgery (MMS) reduces surgical margins. MMS in children is not performed routinely, as the required infrastructures such as a histopathology lab in close proximity to the operating room is often lacking. We retrospectively reviewed children diagnosed with DFSP treated at our hospital over 2 years. We recorded surgical treatment details, including margins, duration of inpatient stay, outcome, follow-up, and molecular genetic tumor tissue analysis. Four children with a median age of 6.8 years (range 6.0-8.8 years) were identified who had a diagnostic delay of a median of 2.5 years (range 0.5-4.0 years); all underwent complete tumor excision using the slow MMS technique using vacuum-assisted closure systems between repeated excisions and before wound closure. The median maximal safety margins were 1.5 cm (range 1.0-3.0 cm). By using vacuum-assisted closure systems, no dressing changes were needed, pain was limited, and full mobility was maintained in all children. The median total time in the hospital was 11 days (range 10-14 days). No relapses occurred during a median follow-up of 25.8 months (range 11.3-32.6 months). Collagen 1A1/platelet-derived growth factor B (COL1A1/PDGFB) translocation on chromosomes 17 and 22 was detected in all three analyzable specimens. Lesions suspected of being DFSP warrant prompt histologic evaluation; interdisciplinary management is mandatory in particular for children. Micrographic surgery allows smaller surgical margins than wide excision and should be considered as the treatment of choice in children with DFSP. The interim usage of vacuum-assisted closure systems increases patient comfort. Translocations in the COL1A1/PDGFB gene imply susceptibility to targeted treatment modalities for therapy-resistant cases.

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Hersant B, May P, Battistella M, et al.
Reducing surgical margins in dermatofibrosarcoma protuberans using the pathological analysis technique 'vertical modified technique': a 5-year experience.
J Plast Reconstr Aesthet Surg. 2013; 66(5):617-22 [PubMed] Related Publications
BACKGROUND: For the treatment of dermatofibrosarcoma protuberans (DFSP), wide surgical excision has been recommended, with 3-5-cm margins, including the first underlying clear fascia. Since 2006, a technical improvement in pathological analysis called the vertical modified technique (VMT) has allowed us to reduce the surgical margin without increased oncological risk.
METHODS: Between 2006 and 2011, 66 cases of DFSP were analysed in our hospital, using VMT. We reviewed patient records, considering the initial margin, total margin, number of surgeries and outcomes. Functional and aesthetic consequences were assessed by the surgeon and by the patients.
RESULTS: Mean initial margin for the first resection was 18 mm (10-30 mm). First resection allowed complete resection of the tumour in 52 cases (78.8%). Mean total surgical margin was 21.3 mm (10-60 mm). There were no cases of local tumour recurrence at a median follow-up of 30 months. Reconstruction was performed using direct sutures in 53 cases (80.3%), split-thickness skin grafts in six cases (9.1%), full-thickness skin grafts in five cases (7.6%) and flaps in two patients (3%). For 90.9% of the patients, the aesthetic result was acceptable, whereas 84.8% patients were satisfied with the functional result.
CONCLUSION: VMT reduces surgical margins and allows for extensive analysis of margins. This technique represents a safe and reliable strategy in DFSP, without increasing the risk of recurrence. The outcomes of our study have confirmed the data from the literature regarding oncological safety.

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de Morais OO, de Araújo LC, Gomes CM, et al.
Congenital dermatofibrosarcoma protuberans.
Cutis. 2012; 90(6):285-8 [PubMed] Related Publications
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).

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Ha SY, Lee SE, Kwon MJ, et al.
PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications.
Hum Pathol. 2013; 44(7):1300-9 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is characterized genetically by the translocation t(17;22)(q22;q13), which creates a COL1A1/PDGFB fusion gene. The implications of this gene for the clinicopathologic features of the disease are not fully understood. Fifty-one cases of DFSP from 46 patients were reclassified as DFSP (n=29) and DFSP-fibrosarcomatous variant (DFSP-FS; n=22). Fluorescence in situ hybridization was performed using a dual-color break-apart probe to detect rearrangements involving PDGFB, and CD34 immunohistochemistry staining was done. The DFSP-FS was found in older patients, and the tumors were larger, with a smaller mean area of staining for CD34. PDGFB rearrangement was found in 45 cases (95.7%). The mean gene copy number was 3.82 (range 2.2-6.45) and was higher in DFSP-FS than in classic DFSP (4.54 vs. 3.47; P < .001). The PDGFB copy number showed a moderate positive correlation with the number of mitotic figures and tumor size. Patients undergoing wide excision or having no involvement of the resection margin had no relapses. These results suggest a role for COL1A1/PDGFB in sarcomatous change in DFSP over time. Detection of COL1A1/PDGFB rearrangement by fluorescence in situ hybridization is useful for confirmation of the diagnosis. Patients who present with metastatic DFSP-FS show less typical histologic findings and loss of CD34 staining, leaving PDGFB rearrangement as the preferred adjunctive method for diagnosis from small biopsies and for prediction of the value of imatinib therapy.

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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] Related Publications
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.

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Hirano SA, Torosky CM
Dermatofibrosarcoma protuberans arising at a Rho(D) immune globulin injection site.
Cutis. 2012; 90(5):233-4 [PubMed] Related Publications
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.

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Kurlander DE, Martires KJ, Chen Y, et al.
Risk of subsequent primary malignancies after dermatofibrosarcoma protuberans diagnosis: a national study.
J Am Acad Dermatol. 2013; 68(5):790-6 [PubMed] Related Publications
BACKGROUND: Patients frequently live many years after diagnosis of dermatofibrosarcoma protuberans (DFSP).
OBJECTIVE: We sought to determine the risk of subsequent primary malignancy (SPM) after DFSP diagnosis.
METHODS: Using the Surveillance, Epidemiology, and End Results database (1973-2008) for 3734 patients with DFSP, we compared the risk of developing 14 SPMs (12 most prevalent cancers in the United States plus other nonepithelial and soft tissue) relative to risk in the general population of same sex, race, and age and year of diagnosis.
RESULTS: Patients given the diagnosis of DFSP had an overall increased risk of SPM (observed:expected [O:E], 1.20; 95% confidence intervals [CI], 1.04-1.39), with much of the overall increased risk attributable to increased risk of nonepithelial skin cancer (O:E, 9.94; 95% CI, 3.38-22.30). Specifically, female patients with DFSP were at increased risk of other nonepithelial skin cancer (O:E, 14.50; 95% CI, 3.46-38.98), melanoma (O:E, 2.59; 95% CI, 1.02-5.35), and breast cancer (O:E, 1.44; 95% CI, 1.00-2.00). Male patients were not at increased overall risk (O:E, 1.18; 95% CI, 0.96-1.44) of SPM or at increased risk of any specific malignancy (P > .05) adjusted for multiplicity of t tests.
LIMITATIONS: Surveillance bias may have led to increased rates and earlier detection of primary malignances in patients with DFSP compared with the general population. Individual data that may reveal shared environmental causes of DFSP and SPM were unavailable.
CONCLUSIONS: Patients with DFSP are at increased risk of a number of SPMs.

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Walluks K, Chen Y, Woelfel C, et al.
Molecular and clinicopathological analysis of dermatofibrosarcoma protuberans.
Pathol Res Pract. 2013; 209(1):30-5 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a dermal and subcutaneous tumor of intermediate malignancy. The most remarkable cytogenetic feature of DFSP is the chromosomal translocation t(17;22)(q22;q13), causing a fusion of the platelet-derived growth factor beta chain (PDGFB) gene at 22q13, and the collagen type 1 alpha 1 (COL1A1) at 17q22. The aim of the study was to analyze the molecular characteristic of DFSP in conjunction with histopathological and clinical features. We performed fluorescence in situ hybridization (FISH) and multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) to detect chromosomal translocations and fusion gene transcripts in 16 formalin-fixed, paraffin-embedded DFSP samples. In addition, the amplification of PDGFB was also evaluated in the 16 DFSP samples by real-time PCR. FISH analysis revealed that all the 16 samples exhibited COL1A1-PDGFB gene fusion. Eleven out of 11 informative cases (100%) showed fusion transcripts by multiplex RT-PCR analysis. Various exons of the COL1A1 gene were fused with the PDGFB gene. Among them, exon 25 was found to be more frequently involved. Real-time PCR showed that the PDGFB copy number increase in the DFSP samples was higher than in normal skin tissues (p=0.007). Values of FISH fusion signals and PDGFB DNA analysis were variable between samples, but suggested that increased values might be associated with parameters of tumor progression. Our results confirm that analysis of the COL1A1-PDGFB status by FISH and RT-PCR is a useful tool in the confirmation of a DFSP diagnosis. In addition, the analysis of PDGFB copy number status may become a useful diagnostic marker since the gene is a potential target for treatment of DFSP patients.

Related: PDGFRB gene FISH


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 Related Publications
UNLABELLED: 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.

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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] Related Publications
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.

Related: Vulva Cancer


Aziz R, Jamil A
Dermatofibrosarcoma: a rare neoplasm of skin.
BMJ Case Rep. 2012; 2012 [PubMed] Related Publications
A 25-year-old lady presented with a small pea-sized lesion on left side of her neck, anteriorly. There was no history of any other lesion on her body. She was medically fit otherwise. An excision was planned, after taking consent from her, which was performed under local anaesthesia as a day procedure. Her postoperative recovery was uneventful. Histopathology showed dermatofibrosarcoma protuberance which is an extremely rare skin tumour. She was further investigated for metastasis. Her CT scan of chest, abdomen and pelvis was performed which showed prominent thymus. Other than this finding, no other abnormality was found in CT scan.

Related: Head and Neck Cancers Head and Neck Cancers - Molecular Biology Skin Cancer


Valdivielso-Ramos M, Hernanz JM
Dermatofibrosarcoma protuberans in childhood.
Actas Dermosifiliogr. 2012; 103(10):863-73 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that is very rare in childhood. Only 6% of these tumors present in children. Clinical diagnosis is very difficult in the early stages of disease, but to ensure appropriate treatment it is important to identify DFSP as early as possible and rule out benign conditions that are more common at this age. The clinical presentation and histopathologic and molecular characteristics of DFSP are similar in children and adults. Clinical diagnosis is, however, more difficult in children and requires a high degree of suspicion. The absence of characteristic features and the rarity of this tumor explain why diagnosis is often delayed. Complete surgical excision of the tumor is very important to reduce the risk of recurrence. This article presents a review of current knowledge about the management of DFSP in children and examines the latest treatment options.


King L, López-Terrada D, Jakacky J, et al.
Primary intrathoracic dermatofibrosarcoma protuberans.
Am J Surg Pathol. 2012; 36(12):1897-902 [PubMed] Related Publications
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.

Related: FISH


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] Related Publications
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.

Related: Vulva Cancer


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] Related Publications
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.

Related: MMP11 MMP9: matrix metallopeptidase 9


Reinstadler DR, Sinha UK
Uncommon cutaneous neoplasms of the head and neck.
Facial Plast Surg Clin North Am. 2012; 20(4):483-91 [PubMed] Related Publications
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.

Related: Merkel Cell Carcinoma Head and Neck Cancers Head and Neck Cancers - Molecular Biology Skin Cancer


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