Dermatofibrosarcoma Protuberans
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Latest Research Publications

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

Loghdey MS, Varma S, Rajpara SM, et al.
Mohs micrographic surgery for dermatofibrosarcoma protuberans (DFSP): a single-centre series of 76 patients treated by frozen-section Mohs micrographic surgery with a review of the literature.
J Plast Reconstr Aesthet Surg. 2014; 67(10):1315-21 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade sarcoma that typically presents with local invasion but rarely metastasises. Surgical excision remains the first-line treatment for DFSP. There are no randomised controlled or prospective studies comparing wide local excision (WLE) with Mohs micrographic surgery (MMS), but available evidence from the retrospective studies and case series available has consistently shown higher recurrence rates for standard surgery and WLE than for MMS. Combined recurrence rates of data within the last 20 years for WLE have been reported at 7.3% compared with 1.1% for MMS. Our aim was to review the clinical details and recurrence rates of DFSP cases treated with frozen-section MMS in our centre between 1996 and February 2013. The relevant data were collected from the case notes. It involved 76 patients with nine of these patients lost to follow-up. In the remaining 67 (67/76) cases, the recurrence rate was 1.5% during the mean follow-up period of 50 months (2-132). This is comparable to recurrence rates for the MMS in the literature [20,21]. Our series is the largest series for frozen-section MMS reported to date. Based on these findings and the current literature evidence, we advocate MMS as the treatment of choice for DFSP in all locations.

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Tsai YJ, Lin PY, Chew KY, Chiang YC
Dermatofibrosarcoma protuberans in children and adolescents: Clinical presentation, histology, treatment, and review of the literature.
J Plast Reconstr Aesthet Surg. 2014; 67(9):1222-9 [PubMed] Related Publications
PURPOSE: Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade malignant tumor. It is characterized by aggressive local infiltration, leading to a propensity for recurrence. In children, DFSP is even less common and likely misdiagnosed or underdiagnosed. This study is a review of DFSP in the pediatric population and aims to identify factors for successful treatment.
MATERIALS AND METHODS: From July of 1986 to 2011, a total of 159 patients were diagnosed with dermatofibrosarcoma protuberans at Kaohsiung Chang Gung Memorial Hospital, Taiwan. Subject to the age classification of our institution, patients under the age of 18 are defined in the pediatric category, of which159 cases were identified as our research subjects. Detailed data, including demographic data, imaging studies, pathology, treatment methods, and outcomes, of these identified patients were collected, reviewed, and analyzed.
RESULTS: A total of 13 patients, consisting of six male and seven female patients, were identified based on our criteria. Two had the lesions noticed at birth. Most patients experienced a variable period of quiescence, followed by a rapid growth phase. All 13 patients underwent wide excisions. Post-excision reconstruction included direct closure in three cases, skin grafting in three cases, and local or free flap reconstruction in seven cases. Of 13 patients, four received postoperative radiotherapy. All patients survived without recurrence up to July 2011, with follow-up periods ranging from 20 months to 19 years.
CONCLUSION: Clinicians should be aware that DFSP is known to occur among children. Owing to its relatively low incidence, its presence may be confused with commoner lesions such as hemangioma, fibroma, or atrophic plaques without nodule. The confusing situation, as a result, frequently leads to delayed diagnosis. Vigilance in its diagnosis allows for treatment at manageable sizes as well as ensures complete excision. Reconstructive options, such as skin grafting, and modalities, such as adjuvant postoperative radiotherapy, are suggested to best complement each other. The former minimizes disfigurement while the latter minimizes recurrences.

Related: Skin Cancer

Franco JP, Barbosa CC, Fonseca BF, et al.
Case for diagnosis. Dermatofibrosarcoma protuberans.
An Bras Dermatol. 2014 Mar-Apr; 89(2):357-8 [PubMed] Free Access to Full Article Related Publications
Dermatofibrosarcoma protuberans is a fibrohistiocytic tumor of intermediate malignancy with aggressive localized growth, high recurrence rate, but low metastatic potential. It appears as a hardened plaque, with slow growth, upon which the development of nodules occurs. It predominates in the trunk and is unusual in acral locations. Histopathology reveals spindle cells with storiform pattern and cartwheel-like or whirlwind-like aspect. Immunohistochemistry shows positivity for CD34. The treatment is surgical. We report a case of long evolution, with an unusual location, that relapsed after surgery, to emphasize the importance of early diagnosis and proper treatment, avoiding aggressive resections with increased morbidity.

Related: Skin Cancer

Liang CA, Jambusaria-Pahlajani A, Karia PS, et al.
A systematic review of outcome data for dermatofibrosarcoma protuberans with and without fibrosarcomatous change.
J Am Acad Dermatol. 2014; 71(4):781-6 [PubMed] Related Publications
BACKGROUND: To our knowledge, no systematic review of dermatofibrosarcoma protuberans (DFSP) outcomes based on the presence or absence of fibrosarcomatous (FS) change has been performed.
OBJECTIVE: We sought to compare available outcome data for DFSP versus DFSP-FS.
METHODS: The literature was searched for DFSP and DFSP-FS reports with outcome data (local recurrence, metastasis, or death from disease). Chi-square tests were calculated to determine whether DFSP and DFSP-FS significantly differed in risk of local recurrence, metastasis, and death from disease.
RESULTS: In all, 24 reports containing 1422 patients with DFSP and 225 with DFSP-FS are summarized. Risk of local recurrence, metastasis, and death from disease in DFSP-FS was significantly higher as compared with DFSP (local recurrence 29.8% vs 13.7%, risk ratio 2.2 [95% confidence interval 1.7-2.9]; metastasis 14.4% vs 1.1%, risk ratio 5.5 [95% confidence interval 4.3-7.0]; and death from disease 14.7% vs 0.8%, risk ratio 6.2 [95% confidence interval 5.0-7.8]). There was no significant difference in DFSP-FS outcomes based on proportion of FS change within tumors.
LIMITATIONS: This study is based on previously reported data from different hospitals with no uniform process for reporting FS change. The impact of confounders (age, immune status, tumor location, treatment) could not be evaluated because of limited data.
CONCLUSION: Based on available retrospective data, risk of metastasis and death is elevated in DFSP-FS as compared with DFSP. Even a low degree of FS involvement portends worse outcomes.

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Takahashi Y, Kohashi K, Yamada Y, et al.
Activation of the Akt/mammalian target of rapamycin pathway in myxofibrosarcomas.
Hum Pathol. 2014; 45(5):984-93 [PubMed] Related Publications
The Akt/mammalian target of rapamycin (mTOR) pathway plays important roles in modulating cellular function in response to extracellular signals such as growth factors and cytokines. The Akt/mTOR signaling pathway is activated in certain kinds of sarcomas. Myxofibrosarcoma is a soft tissue sarcoma, characterized by abundant myxoid stroma and frequent local recurrence. Here, we conducted a large-scale examination of the clinicopathological and activation statuses of the Akt/mTOR pathways in myxofibrosarcoma. The phosphorylation status of Akt, mTOR, S6 ribosomal protein, and the eukaryotic translation initiation factor 4E-binding protein, and mitogen-activated protein kinase were assessed by immunohistochemistry in 101 formalin-fixed, paraffin-embedded samples, including 68 primary tumors in myxofibrosarcoma. Immunohistochemical expressions were confirmed by Western blotting with 20 frozen samples, which were paired with normal tissue samples. PIK3CA and AKT1 gene mutations were also analyzed using 12 primary tumor frozen samples. Immunohistochemically, phosphorylations of Akt, mTOR, S6 ribosomal protein, 4E-binding protein, and mitogen-activated protein kinase 1/2 were observed in 64.7%, 45.6%, 42.6%, 63.2%, and 64.7% of samples. Phosphorylated Akt/mTOR pathway proteins were correlated with one another and were also correlated with the phosphorylation of these proteins in the concordant recurrent tumors. Immunoblotting showed a high degree of phosphorylation in tumor samples, compared with that in normal tissue samples. Activation of the Akt/mTOR pathway was correlated with histologic grade and tumor progression. Mutational analysis failed to reveal any PIK3CA or AKT1 mutations around the hot spots. Activation of the Akt/mTOR pathway was associated with histologic malignancy and tumor progression in primary and recurrent myxofibrosarcoma.

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Afroz N, Shamim N, Jain A, Soni M
Coexistence of giant cell fibroblastoma and encephalocele.
BMJ Case Rep. 2014; 2014 [PubMed] Related Publications
Giant cell fibroblastoma (GCF) is a rare soft tissue tumour that occurs almost exclusively in children younger than 10 years of age and is mostly located in the superficial soft tissues of the back and thighs. We present a rare case of GCF with encephalocele in a 1.5-year-old boy who presented with a swelling in the occipital area of the scalp since birth. CT scan suggested encephalocele without any suspicion of a mass lesion. On histopathology, an ill-defined proliferation of fibroblasts in a heavily collagenised and focally myxoid stroma was seen containing numerous multinucleated cells having a floret-like appearance along with mature glial tissue bordering a cystic space. Immunohistochemically, the stromal cells were positive for both, vimentin (diffuse) and CD34 (focal) thereby confirming the histological diagnosis of GCF. This case highlights the unusual coexistence of GCF with congenital defects and its histogenetic resemblance to dermatofibrosarcoma protuberans.

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Stamatakos M, Fyllos A, Siafogianni A, et al.
Dermatofibrosarcoma protuberans: a rare entity and review of the literature.
J BUON. 2014 Jan-Mar; 19(1):34-41 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is an uncommon malignant mesenchymal tumor. The incidence of DFSP is 0.1% of all cancers and less than 2% of all soft tissue sarcomas (STS). It can appear at any age, most commonly in individuals aged between 20 and 50 years. The usual location of DFSP is the trunk and it is limited to the dermis. Wide radical excision is the preferred surgical method for therapy of DFSP without distant metastasis. The probability of regional or distant metastases is less than 5%. Patients with positive or close surgical margins have an elevated risk of local recurrence after resection. Adjuvant radiotherapy administered either before or after the surgical treatment reduces the risk of local recurrence.

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Kajihara I, Jinnin M, Harada M, et al.
miR-205 down-regulation promotes proliferation of dermatofibrosarcoma protuberans tumor cells by regulating LRP-1 and ERK phosphorylation.
Arch Dermatol Res. 2014; 306(4):367-74 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is an intermediate malignancy of the skin. Although COL1A1/PDGFB fusion gene was identified in the tumor cells recently, not all of the cases were positive for the fusion gene, and further researches are still needed to clarify the pathogenesis of DFSP. In this study, we investigated the role of microRNAs in the tumor. microRNA PCR array showed several microRNAs increased or decreased in DFSP in vivo compared with dermatofibroma (DF) and normal skin. Among them, the expression of miR-205 was down-regulated in DFSP compared with DF and normal skin. In situ hybridization showed that miR-205 expression was evident in dermal fibroblasts of normal skin although hardly detected in tumor cells of DF or DFSP. miR-205 inhibitor increased cell proliferation and the luciferase activity of 3'UTR of low-density lipoprotein receptor-related protein-1 (LRP-1) in cultured normal dermal fibroblasts. Immunohistochemistry showed the expression of LRP-1 was increased in DFSP tissue. Knockdown of LRP-1 suppressed cell growth and down-regulated extracellular signal-regulated kinase (ERK) phosphorylation without affecting MEK phosphorylation in cultured DFSP cells. Taken together, LRP-1 overexpression caused by the miR-205 down-regulation may play a role in the abnormal proliferation of DFSP cells via directly regulating ERK phosphorylation.

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Xu J, Li J, Zhou X, et al.
Cryotherapy for local recurrent dermatofibrosarcoma protuberans: experience in 19 patients.
Cryobiology. 2014; 68(1):134-8 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive, cutaneous, malignant tumor characterized by a high propensity for local relapse. Wide and deep local excision with reconstructive surgery is the current standard therapy for DFSP, with a local recurrence rate (LRR) of nearly 40%. In this study, we cured 19 patients with local recurrence of DFSP with 39 sessions of percutaneous cryoablation performed between July 2004 and August 2008. The LRRs after one, two and three cryosurgery sessions per patient were 68%, 54% and 0%, respectively. Moreover, the LRR did not differ with tumor location or size. Furthermore, all patients had a progression-free survival of >5 years. Only minor complications such as fever, local edema, mild nerve injury and local pain occurred, and were resolved within 1 week with symptomatic treatment. In our experience, percutaneous cryoablation is a relatively safe and efficient technique for the treatment of local recurrence of DFSPs.

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Park HJ, Nguyen JV, Miller CJ, et al.
Follicular induction overlying a dermatofibrosarcoma protuberans.
Am J Dermatopathol. 2014; 36(2):186-8 [PubMed] Related Publications
The term "induction" has been used to describe epidermal changes overlying a dermatofibroma (DF). Follicular induction is most often associated with DF, but can be observed in other lesions, including focal mucinosis, nevus sebaceous, seborrheic keratosis, wart, neurofibroma, and scars. Dermatofibrosarcoma protuberans (DFSP) is a malignant fibrohistiocytic tumor that may be difficult to distinguish from DF. In contrast to DF, the epidermis overlying DFSP is usually attenuated or ulcerated. Here, we report a case of DFSP exhibiting follicular induction of the overlying epidermis. This epidermal change has been rarely reported in DFSP and may present a diagnostic pitfall in superficially sampled lesions.

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Chu MB, Dhandha M, Guo A
Coexistent dermatofibrosarcoma protuberans and anticonvulsant-induced cutaneous lymphoid hyperplasia: diagnostic challenge.
BMJ Case Rep. 2013; 2013 [PubMed] Related Publications
A 60-year-old African-American male patient with a history of seizures, developmental delay, long history of behavioural issues with psychotic episodes, heart, liver, thyroid and kidney diseases presented for evaluation of a right neck skin lesion. Physical examination revealed a shiny purplish-red plaque on the right neck and a thin pink plaque on the posterior neck. The lesions were similar in appearance, but different enough to warrant skin biopsy of each. Pathology demonstrated mycosis fungoides (MF) on the right neck and dermatofibrosarcoma protuberans (DFSP) on the posterior neck. The identification of two rare conditions made us reconsider our diagnosis. After further review, the right neck skin lesion was thought to be anticonvulsant-induced cutaneous lymphoid hyperplasia, not MF. This case demonstrates how insufficient skin biopsy can have significant clinical consequences. Biopsy of the right neck only would have overlooked a DFSP and incorrectly given the patient a diagnosis of MF.

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Kazlouskaya V, Malhotra S, Kabigting FD, et al.
CD99 expression in dermatofibrosarcoma protuberans and dermatofibroma.
Am J Dermatopathol. 2014; 36(5):392-6 [PubMed] Related Publications
BACKGROUND: Differentiating between dermatofibrosarcoma protuberans (DFSP) and hypercellular dermatofibroma (DF) can sometimes be challenging, and a panel of immunostains is often employed. Expression of conventional markers oftentimes overlaps. We evaluated CD99 expression in DFSP and DF and its utility in distinction between these 2 entities.
METHODS: CD99 immunostaining was performed on 34 DFSPs and 24 hypercellular DFs. The intensity of staining was graded as "weak," "moderate," or "strong," and the proportion of positive cells was graded as follows: "scattered" when individual cells comprised <5% of the total cellularity of the lesion; "focal" with >5% but <25% of the cells; or "diffusely distributed" with staining of >25% of lesional spindle cells.
RESULTS: Overall, DFSPs showed positive CD99 staining in 21 (61.76%) cases. Moderate and weak patterns of staining were the most frequent, seen in 13 (38.2%) and 7 (20.6%) cases, respectively. CD99 staining in DFSPs was predominantly scattered or patchy (4 and 11 lesions respectively) with less than 25% of cells expressing CD99. In comparison, all 24 DF cases showed strong CD99 positivity in >25% of the spindle cell component (P = 0.0003). The most striking difference related to the distribution of staining. In DFSP, tumor cells in the superficial dermis, when present, were always CD99 negative. In contrast, DF cells in the superficial dermis always demonstrated strong CD99 positivity.
CONCLUSIONS: DF strongly expresses CD99 in a diffuse pattern that may serve as evidence in distinction from DFSP. As the differences in staining were most pronounced in the superficial portions of the tumor, CD99 staining may be well suited to superficial biopsy specimens, where distinction in hematoxylin and eosin sections may be most problematic.

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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 [PubMed] Related Publications
PURPOSE: Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous tumor. COL1A1-PDGFB gene fusion is frequent in DFSP, rendering tumor cell proliferation and survival dependent on PDGFRβ (platelet-derived growth factor receptor β) signaling. This trial investigated imatinib as neoadjuvant treatment of DFSP, including long-term follow-up.
EXPERIMENTAL DESIGN: The primary endpoint of this multicenter phase II trial was response; secondary endpoints were safety, tumor relapse, and response biomarkers. Patients with advanced primary or locally recurrent DFSP and measurable disease by RECIST (response evaluation criteria in solid tumors) were eligible and received imatinib 600 mg/d until definitive surgery with histopathologic proof of tumor-free margins.
RESULTS: Sixteen patients received imatinib, and 14 patients were evaluable for all endpoints. Median treatment duration was 3.1 months; median tumor shrinkage was 31.5%. Best overall response was 7.1% complete response (CR), 50.0% partial response (PR), 35.7% stable disease, and 7.1% progressive disease (PD). Toxicity was moderate with 25.0% grade 3 and 4 events. During a median follow-up of 6.4 years, one patient developed secondary resistance to imatinib but responded to second-line sunitinib. This patient also presented local recurrence, distant metastasis, and death from DFSP. Exploratory analysis showed that response to imatinib was associated with decreased tumor cellularity and formation of strong hyalinic fibrosis. Weak PDGFRB phosphorylation and pigmented-type DFSP were associated with nonresponse. Additional to PDGFRB, the kinases EGFR and insulin receptor were found activated in a high percentage of DFSPs.
CONCLUSION: The neoadjuvant use of imatinib 600 mg/d in DFSP is efficacious and well tolerated. Long-term follow-up results do not definitely support smaller surgical margins after successful imatinib pretreatment, and presume that secondary resistance to imatinib might promote accelerated disease progression.

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West KL, Cardona DM, Su Z, Puri PK
Immunohistochemical markers in fibrohistiocytic lesions: factor XIIIa, CD34, S-100 and p75.
Am J Dermatopathol. 2014; 36(5):414-9 [PubMed] Related Publications
BACKGROUND: The distinction between dermatofibroma (DF), dermatofibrosarcoma protuberans (DFSP), and other benign and malignant cutaneous spindle cell lesions frequently requires immunohistochemical staining. CD34 and factor XIIIa are the most commonly used immunostains; however, they may exhibit aberrant expression and introduce the potential for misdiagnosis. There is some data supporting that p75 and S100A6 may be additional helpful immunohistochemical markers.
METHODS: We undertook a large case series examining the use of CD34 and factor XIIIa as well as p75 and S100A6 in DF, cellular DF, DFSP, indeterminate fibrohistiocytic lesion, and scar.
RESULTS: As expected, CD34 stained DFSP, although it was usually negative in DF. Factor XIIIa was generally positive in DF and negative in DFSP. There were exceptions in both cases of DF and DFSP. S100A6 was routinely negative in all entities studied. P75 was negative in all cases except DFSP, approximately half of which showed weak and/or patchy positivity.
CONCLUSIONS: We conclude that to date, CD34 and factor XIIIa remain the most reliable immunohistochemical markers for DF and DFSP.

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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.

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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.

Lau YN, Affleck AG, Edwards SL, et al.
A bruise-like patch in a 4-year-old girl.
Dermatol Online J. 2013; 19(9):19612 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP), a rare medium grade sarcoma, occasionally occurs in childhood and is even more rarely present at birth. In children, the clinical appearance may be mistaken for a vascular malformation and so delayed diagnosis is not uncommon. Dermatofibrosarcoma protuberans is locally invasive and notorious for its high recurrence rate even after attempted wide local excision owing to extensive subclinical and asymmetrical extensions. In adult DFSP, Mohs Micrographic Surgery (MMS) is the treatment of choice because it offers a higher clearance rate compared to wide local excision. However, MMS may result in extended operating times owing to tissue processing and multiple stages. In children, this means a prolonged period under general anesthetic, which may be undesirable. We describe an interesting case of a 4- year-old girl diagnosed with DFSP. She underwent a modified MMS procedure in which she had two short general anesthetics. The advantage of MMS technique in which the full peripheral and deep margin of the specimen was examined.

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Serra-Guillén C, Llombart B, Nagore E, et al.
High immunohistochemical nestin expression is associated with greater depth of infiltration in dermatofibrosarcoma protuberans: a study of 71 cases.
J Cutan Pathol. 2013; 40(10):871-8 [PubMed] Related Publications
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) was recently shown to express nestin, a marker that has been associated with poorer prognosis when present in high levels in certain tumors. The objective of this study is to explore the association between high nestin expression and deep invasion.
METHODS: We performed a retrospective, observational study in which we evaluated the degree of nestin expression in 71 DFSP. The odds of fascial involvement was calculated before and after adjusting for the following confounders: age, sex, tumor size, time to diagnosis, tumor site, the presence of fibrosarcomatous areas, pleomorphism, number of mitotic figures and predominant histopathologic pattern. We also calculated the Spearman Rho correlation coefficient between nestin staining intensity and depth of invasion.
RESULTS: Nestin immunopositivity was found in 98.6% of the tumors, and high expression levels were significantly associated with invasion of the fascia. The odds of fascial involvement in tumors with strong nestin staining was 6.56 (p = 0.001) before adjustment for confounders and 14.86 after adjustment (p = 0.007). The Spearman rho correlation coefficient between nestin expression and deep invasion was 0.287 (p = 0.015).
CONCLUSION: High inmunohistochemical nestin expression appears to be associated with deeper invasion in DFSP.

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Hong JY, Liu X, Mao M, et al.
Genetic aberrations in imatinib-resistant dermatofibrosarcoma protuberans revealed by whole genome sequencing.
PLoS One. 2013; 8(7):e69752 [PubMed] Free Access to Full Article Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a very rare soft tissue sarcoma. DFSP often reveals a specific chromosome translocation, t(17;22)(q22;q13), which results in the fusion of collagen 1 alpha 1 (COL1A1) gene and platelet-derived growth factor-B (PDGFB) gene. The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis of DFSP. Thus, blocking PDGFR receptor activation with imatinib has shown promising activity in the treatment of advanced and metastatic DFSP. Despite the success with targeted agents in cancers, acquired drug resistance eventually occurs. Here, we tried to identify potential drug resistance mechanisms against imatinib in a 46-year old female with DFSP who initially responded well to imatinib but suffered rapid disease progression. We performed whole-genome sequencing of both pre-treatment and post-treatment tumor tissue to identify the mutational events associated with imatinib resistance. No significant copy number alterations, insertion, and deletions were identified during imatinib treatment. Of note, we identified newly emerged 8 non-synonymous somatic mutations of the genes (ACAP2, CARD10, KIAA0556, PAAQR7, PPP1R39, SAFB2, STARD9, and ZFYVE9) in the imatinib-resistant tumor tissue. This study revealed diverse possible candidate mechanisms by which imatinib resistance to PDGFRB inhibition may arise in DFSP, and highlights the usefulness of whole-genome sequencing in identifying drug resistance mechanisms and in pursuing genome-directed, personalized anti-cancer therapy.

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Millare GG, Guha-Thakurta N, Sturgis EM, et al.
Imaging findings of head and neck dermatofibrosarcoma protuberans.
AJNR Am J Neuroradiol. 2014; 35(2):373-8 [PubMed] Related Publications
BACKGROUND AND PURPOSE: Dermatofibrosarcoma protuberans is a rare, locally aggressive sarcoma of the skin in children and adults, usually involving the trunk and extremities and less commonly the head and neck. Despite clinical reports in the literature on the management of dermatofibrosarcoma protuberans, there are limited articles describing its imaging features.
MATERIALS AND METHODS: We retrospectively reviewed the demographics and imaging findings in all 24 patients with pathologically proven dermatofibrosarcoma protuberans of the head and neck seen at a tertiary cancer center between 2001 and 2010.
RESULTS: Twenty-two of the 24 lesions were nodular and well circumscribed; 19 of the 24 were located on the scalp. On imaging, all 24 lesions involved subcutaneous tissues. The lesions ranged in size from 0.6-9.5 cm (mean, 3.7 cm; standard deviation, 2.3 cm). Twelve lesions involved the soft tissues either at or extending directly to the midline. Thirteen lesions were associated with bulging of the skin surface. Fourteen lesions were imaged with CT and 14 with MR imaging. Whereas variable enhancement patterns were noted on CT and MR imaging, dermatofibrosarcoma protuberans was usually T2-hyperintense and demonstrated marked enhancement. None of the lesions was associated with bone invasion, perineural spread, or nodal/distant metastasis.
CONCLUSIONS: Knowledge of the imaging characteristics of dermatofibrosarcoma protuberans may alert neuroradiologists to include dermatofibrosarcoma protuberans in the differential diagnosis of lesions about the head and neck with similar imaging characteristics.

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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.

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

Akram J, Wooler G, Lock-Andersen J
Dermatofibrosarcoma protuberans: clinical series, national Danish incidence data and suggested guidelines.
J Plast Surg Hand Surg. 2014; 48(1):67-73 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma that frequently recurs locally, but rarely metastasizes. The purpose of this work is to present a clinical series of DFSP patients and national Danish incidence data in the period 2000-2012. Furthermore, the aim is to present guidelines on the management based on a review of the literature. Medical records of 26 consecutively treated patients at the Department of Plastic Surgery in Health Care Region Zealand were reviewed and histological specimens were reassessed. To investigate national Danish incidence in the period 2000-2012, data were extracted from the national pathology registry. Finally, a literature search was performed in Pubmed and Cochrane, and 23 major publications were reviewed. Studies on Mohs Micrographic surgery were excluded. All patients were treated with wide local excision (WLE) with a median margin of 2.8 cem and a median follow-up time of 36 months. We found a local recurrence rate of 4%. Our national incidence data were based on 374 patients. The overall incidence was 0.53 per 100,000 persons. The prevalence of DFSP in the age group 20-50 years was significantly higher than the group below 20 years (p < 0.0001). Surgery is the treatment of choice for primary DFSP, local recurrences, and metastases. If clear margins cannot be obtained by WLE or surgery is not an option because of unacceptable functional or cosmetic outcome, adjuvant radiotherapy or imatinib can be considered. Chemotherapy can be a final option if other treatments fail.

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Wollina U, Koch A, Hansel G, et al.
A 10-year analysis of cutaneous mesenchymal tumors (sarcomas and related entities) in a skin cancer center.
Int J Dermatol. 2013; 52(10):1189-97 [PubMed] Related Publications
BACKGROUND: Mesenchymal neoplasms (sarcomas) of skin are rare. Patients with sarcomas were analyzed over the last decade.
METHODS: Over a 10-year period, we conducted a retrospective analysis of patients diagnosed and treated in an urban academic teaching hospital in Saxony, Germany. Clinical and pathologic files were used.
RESULTS: We identified 65 adult patients with 67 primary cutaneous sarcomas. The mean age was 73.1 (± 15.5) years with a male predominance (78.5%). None of the sarcomas was detected by a skin cancer screening program. The diagnosis was atypical fibroxanthoma (n = 41 patients with 43 tumors), cutaneous angiosarcoma (eight), dermatofibrosarcoma protuberans (two), nodular epithelioid cell sarcoma (one), Kaposi sarcoma (three), leiomyosarcoma (five), malignant fibrous histiocytoma (two), fibromyxoid sarcoma (one), and cutaneous angiomyxoma (two). The preferred tumor localization was the head and neck area (44 patients). Follow-up was 0.5-5.5 years (mean 18 ± 12 months). We observed metastatic spread of atypical fibroxanthoma in 12.5%, demonstrating that this type of sarcoma can run an aggressive course. Mohs surgery is still the cornerstone of treatment, although new options in palliative or adjuvant treatment are available.
CONCLUSIONS: Mesenchymal neoplasms (sarcomas) are an important group of cutaneous malignancies. Awareness needs to be improved.

Related: Soft Tissue Sarcomas Kaposi Sarcoma Skin Cancer

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.

Related: PDGFRB gene Signal Transduction

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.

Related: Skin Cancer

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.

Related: France

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.

Related: Head and Neck Cancers Head and Neck Cancers - Molecular Biology Sunitinib (Sutent)

El Hachem M, Diociaiuti A, Latella E, et al.
Congenital myxoid and pigmented dermatofibrosarcoma protuberans: a case report.
Pediatr Dermatol. 2013 Sep-Oct; 30(5):e74-7 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a low-grade, mesenchymal, spindle cell tumor. In addition to the classical form characterized by a storiform pattern of tumor cells, pigmented (Bednar's tumor) and myxoid variants can be observed. Classical DFSP and Bednar's tumor are easily diagnosed. The myxoid variant represents a diagnostic challenge. Pigmented and myxoid variants are rare and thus far have never been reported in association in congenital DFSP. We came across a unique DFSP that was, at the same time, congenital, pigmented, and myxoid. The tumor was surgically excised with broad free margins and no recurrence. The differential diagnosis with other entities such as giant cell fibroblastoma, CD34-positive plaque-like dermal fibroma, superficial plaque-like CD34 DFSP, and neurocristic hamartoma is discussed. The recognition of this hybrid variant of congenital DFSP is important to avoid under- or overtreatment.

Related: Skin Cancer

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