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Dermatofibrosarcoma Protuberans

Information for Patients and the Public
Information for Health Professionals / Researchers
Latest Research Publications
Skin Cancer

Information Patients and the Public (6 links)

    USA  Dermatofibrosarcoma Protuberans (DFSP) Explained by Mayo Clinic

    Mayo Clinic
    Dr. Randall K. Roenigk, a Mayo Clinic dermatologist tells us about the diagnosis and treatment of DFSP, a rare skin cancer.

    USA Dermatofibrosarcoma protuberans

    Genetic and Rare Diseases Information Center - NIH
    Short overview of DFSP and questions and detailed answers.

    USA Dermatofibrosarcoma protuberans

    Genetics Home Reference - National Library of Medicine
    Article focusing on the genes or chromosome abnormalities of DFSP (generally not inherited).

    USA What is Dermatofibrosarcoma Protuberans?

    Liddy Shriver Sarcoma Initiative
    Detailed overview of DFSP, notes variants of DFSP, risk factors, symptoms, diagnosis, treatment and prognosis.


Information for Health Professionals / Researchers (7 links)

Latest Research Publications

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

Abdaljaleel MY, North JP
Sclerosing Dermatofibrosarcoma Protuberans Shows Significant Overlap With Sclerotic Fibroma in Both Routine and Immunohistochemical Analysis: A Potential Diagnostic Pitfall.
Am J Dermatopathol. 2017; 39(2):83-88 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is an uncommon, low-to-intermediate grade sarcoma with several histologic variants, including pigmented (Bednar tumor), sclerosing, myxoid, atrophic, and DFSP with fibrosarcomatous changes. Two patterns of sclerosis in DFSP can be observed, a sclerotic fibroma-like pattern and a morphea/lichen sclerosus-like pattern. Partial biopsies of sclerosing DFSPs with the sclerotic fibroma pattern can be misdiagnosed as sclerotic fibroma or other benign sclerosing tumors (eg, perineurioma, dermatofibroma). DFSPs from our tissue archives were screened for tumors with a sclerosing pattern, and then studied with epithelial membrane antigen (EMA), CD34, and elastic tissue staining to investigate whether such stains can differentiate sclerosing DFSP from sclerotic fibroma. Ten cases of sclerotic fibroma were similarly studied. Two of the 27 DFSPs were predominantly sclerosing and 5 additional DFSPs had a mixed histopathologic pattern including a sclerosing component. Immunohistochemically, all DFSPs with sclerosing (predominant or mixed) pattern were positive for CD34, and 5/7 were at least focally positive for EMA. Elastic tissue staining was reduced or absent in the sclerotic areas. All cases of sclerotic fibroma were either positive or focally positive for CD34, whereas EMA was focally positive in 5/10. Elastic tissue staining ranged from reduced to totally absent in the sclerotic fibromas. In conclusion, the similar histopathologic and immunophenotypic characteristics in sclerotic fibroma and sclerosing DFSP found in this analysis highlight the importance of obtaining clinical information and potentially additional excision for partial biopsies showing a sclerotic fibroma-like pattern.
Related: Skin Cancer

Thway K, Noujaim J, Jones RL, Fisher C
Dermatofibrosarcoma protuberans: pathology, genetics, and potential therapeutic strategies.
Ann Diagn Pathol. 2016; 25:64-71 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP), the most common dermal sarcoma, is a malignant fibroblastic tumor most frequently arising in middle-aged adults. It is typically a low-grade sarcoma that grows slowly but has a high rate of local recurrence with low metastatic potential. Dermatofibrosarcoma protuberans is characterized by a specific translocation t(17;22)(q22;q13) leading to the formation of COL1A1-PDGFB fusion transcripts. Histologically, DFSP has characteristic morphology, of storiform islands of bland spindle cells, and immunohistochemically, it shows diffuse expression of CD34. However, the morphology and immunoprofile can overlap with a variety of other soft tissue neoplasms. The preferred management of localized disease is wide surgical resection or Mohs micrographic surgery, whereas radiotherapy may be used for margin-positive disease where reexcision is not possible, or for inoperable disease. Dermatofibrosarcoma protuberans is generally regarded as refractory to conventional chemotherapy. Treatment options for systemic disease have been previously limited, but the PDGFβR, KIT, and ABL inhibitor imatinib is now an option for effective systemic therapy. Continued insight into the tumorigenic molecular changes generated by the fusion oncogene may lead to further specific targeted treatments. We review DFSP, discussing the morphologic spectrum and variants, immunohistochemistry, molecular genetic findings, potential targeted treatments, and the differential diagnosis.
Related: Skin Cancer

Zbuchea A,
Lateral Genicular Artery Flap for Reconstruction of a Large Knee Defect, Following Oncological Resection - Case Report.
Chirurgia (Bucur). 2016 Jul-Aug; 111(4):353-7 [PubMed] Related Publications
This article presents the case of a 53 years old patient, with ulcerated and infected dermatofibrosarcoma, extended on the anterolateral side of the left knee. The postexcisional defect, exposing patella, was covered through a regional cutaneous flap of the distal third of the thigh, upper lateral genicular artery-based, measuring 20/10 cm, together with expanded free skin split grafts, applied in proximal third of the leg and distal third of the left thigh. Surgical stages and favorable postoperative evolution are exposed. Selection of a particular surgical procedure, depending on the extent and location of the postexcisional defect, as well as therapeutic alternatives according to the literature data, are also discussed. In conclusion, the lateral genicular artery flap represents a useful surgical procedure for covering anterolateral extended defects of the knee, by bringing pliable, supple and flexible cutaneous tissue, similar to original skin, without bulk or irregularities. Moreover, this flap dissection and transposition to the defect does not involve making microsurgical vascular anastomosis.
Related: Skin Cancer

Reha J, Katz SC
Dermatofibrosarcoma Protuberans.
Surg Clin North Am. 2016; 96(5):1031-46 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a rare superficial soft tissue sarcoma. Its rarity precludes large prospective studies. Clinical diagnosis requires an high index of suspicion. Effective management requires an appreciation of tumor biology and the nature of the characteristic infiltrative growth pattern. DFSP tends to recur locally, with a low risk of dissemination. Aggressive surgical resection with widely negative margins is essential to management. Radiotherapy may be indicated in special circumstances. Understanding the molecular pathogenesis has resulted in use of tyrosine kinase inhibitor therapy for patients with locally advanced disease or in metastatic disease. DFSP patients require long-term follow-up.
Related: Skin Cancer

Gupta B, Verma N, Khurana N, Kumar Jain S
Dermatofibrosarcoma protuberans of the scalp, with fibrosarcomatous areas masquerading as epidermal inclusion cyst.
BMJ Case Rep. 2016; 2016 [PubMed] Related Publications
Lesions on the scalp are frequently encountered in clinical practice. Commonly diagnosed lesions include epidermal inclusion cysts (EICs), dermoid cysts and lipomas. Dermatofibrosarcoma protuberans (DFSP) is a low-grade malignant skin tumour occurring mostly in the extremities. However, its occurrence on the scalp is unusual, with an incidence of <5%. This lesion is rarely known to undergo fibrosarcomatous transformation. We present two such rare cases of DFSP of the scalp, with fibrosarcomatous transformation, masquerading clinically as EIC.
Related: Skin Cancer

Makino M, Sasaoka S, Nakanishi G, et al.
Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.
Diagn Pathol. 2016; 11:24 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Atrophic variant of dermatofibrosarcoma protuberans (DFSP) is a distinct form of DFSP.
CASE PRESENTATION: Here, we report the case of a 19-year-old woman with a small congenital atrophic plaque on the right precordium. The lesion remained atrophic for more than 10 years. Several years earlier, a portion of the plaque became tuberous and enlarged. Physical examination revealed a 25 × 30 mm erythematous atrophic plaque surrounded by three hard, smooth, and orange-colored nodules of varying sizes on the right precordium, along with visible subcutaneous adipose tissue and cutaneous veins. Biopsy of the nodule and atrophic plaque revealed dense proliferation of spindle-shaped tumor cells from the dermis to the subcutaneous adipose tissue, and positive immunostaining for CD34 and vimentin in addition to negative staining for factor XIIIa and α-smooth muscle actin. Reverse transcription polymerase chain reaction (RT-PCR) of the tumor tissue revealed the presence of a COL1A1-PDGFB fusion gene. Thus, congenital atrophic dermatofibrosarcoma protuberans was diagnosed. No metastasis to the lungs or regional lymph nodes was found on magnetic resonance imaging. Wide local excision and split-thickness skin grafting was performed and neither recurrence nor metastasis has been observed for 5 years and 8 months since the surgery.
CONCLUSION: This case indicates that a congenital atrophic lesion could represent a quiescent phase of DFSP. Awareness of this rare condition can aid with early diagnosis and thereby improve the prognosis of DFSP.
Related: PDGFB Skin Cancer

Karagianni P, Lambropoulos V, Stergidou D, et al.
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
Am J Med Genet A. 2016; 170A(5):1333-8 [PubMed] Related Publications
Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12-year-old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma -a rare tumor of childhood- in a patient with Kabuki syndrome.
Related: MLL2

Kumar L, Bhandari V, Singh S, et al.
Giant dermatofibrosarcoma protuberans: A rare presentation over face.
J Cancer Res Ther. 2015 Oct-Dec; 11(4):1038 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is an uncommon, locally aggressive, soft tissue tumor. Its occurrence over face is very rare. We are presenting a case of giant DFSP over left cheek, which produces oncological, functional and esthetic challenges and deals by multidisciplinary team. We also reviewed the relevant literature in short.
Related: Skin Cancer

Odueyungbo M, Ratner D
Update on the Use and Treatment of Targeted Molecular Inhibitors for Locally Advanced and Metastatic Non-Melanoma Skin Cancers.
Dermatol Surg. 2016; 42 Suppl 1:S49-56 [PubMed] Related Publications
BACKGROUND: Targeting specific molecular pathway inhibitors has provided a successful approach to the management of selected patients with advanced non-melanoma skin cancer (NMSC). Clinical trials and case studies have provided a rationale for their use in clinical settings.
OBJECTIVE: To review the current approaches to the use of targeted molecular inhibitors for locally advanced and metastatic squamous cell carcinoma, basal cell carcinoma, and dermatofibrosarcoma protuberans.
METHODS: Literature review of the current use of molecular inhibitors in the treatment of NMSCs, including case studies, reports, and clinical trials.
CONCLUSION: The development of molecular pathway inhibitors for the treatment of advanced and metastatic NMSC has increased survival rates and improved clinical outcomes in selected patients with advanced disease.
Related: Basal Cell Carcinoma Skin Cancer

Brewer JD, Shanafelt TD, Cerhan JR, et al.
Effect of Non-Hodgkin Lymphoma on Survival in Patients With Malignant Fibrous Histiocytoma, Kaposi Sarcoma, and Sebaceous Carcinoma: A SEER Population-Based Study.
Dermatol Surg. 2016; 42 Suppl 1:S32-9 [PubMed] Related Publications
OBJECTIVE: To quantify the behavior of dermatofibrosarcoma protuberans (DFSP), malignant fibrous histiocytoma (MFH), Kaposi sarcoma (KS), and sebaceous carcinoma (SC) in patients with a history of non-Hodgkin lymphoma (NHL).
PATIENTS AND METHODS: Subjects with a diagnosis of DFSP, MFH, KS, or SC between 1990 and 2006 were identified in the Surveillance, Epidemiology, and End Results Program database. For each skin cancer type, the standardized mortality ratio (SMR) for death due to any cause and death due to skin cancer was estimated.
RESULTS: From 1990 through 2006, 25,357 skin cancers were identified: 4,192 DFSP, 6,412 MFH, 10,543 KS, and 4,222 SC. For patients with a history of non-CLL NHL, SMRs for death due to any cause were 1.45 (95% confidence interval [CI], 1.03-2.04; p = 0.04) for MFH, 2.90 (95% CI, 2.50-3.36; p < 0.001) for KS, and 3.25 (95% CI, 1.84-5.75; p < 0.001) for SC and SMRs for death due to skin cancer were 0.55 (95% CI, 0.23-1.31; p = 0.18) for MFH, 2.93 (95% CI, 2.49-3.43; p < 0.001) for KS, and 4.07 (95% CI, 1.28-12.94; p < 0.001) for SC.
CONCLUSION: Among patients with KS and SC, patients with a history of non-CLL NHL have a greater risk of overall and cause-specific death than expected.
Related: Non Hodgkin's Lymphoma Kaposi Sarcoma Skin Cancer USA

Kreicher KL, Kurlander DE, Gittleman HR, et al.
Incidence and Survival of Primary Dermatofibrosarcoma Protuberans in the United States.
Dermatol Surg. 2016; 42 Suppl 1:S24-31 [PubMed] Related Publications
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma for which data on risk factors, incidence, and survival are limited.
OBJECTIVE: The authors sought to establish a comprehensive report on the incidence of and survival from primary DFSP.
METHODS: The authors used data from the 18 registries of the Surveillance, Epidemiology, and End Results Program from 2000 to 2010.
RESULTS: Overall incidence was 4.1 per million person-years and steady over the decade. Trunk was the most common anatomic site except in older men. Incidence among women was 1.14 times higher than men (95% confidence interval [CI] of rate ratio: 1.07-1.22). Incidence among blacks was almost 2 times the rate among whites (95% CI of rate ratio: 1.8-2.1). Ten-year relative survival of DFSP was 99.1% (95% CI: 97.6-99.7). Increased age, male sex, black race, and anatomic location of the limbs and head as compared with the trunk were associated with higher all-cause mortality.
CONCLUSION: This is the largest population-based study of DFSP derived from a cohort of almost 7,000 patients. The epidemiologic profile of DFSP differs from most skin cancers. Incidence is stable and highest among women and blacks. Worse survival is associated with increased age, male sex, black race, and anatomic location of the limbs and head.
Related: Skin Cancer USA

Wei S, Dumas A, Zhang PJ, Cooper K
Palisading and Verocay body-prominent dermatofibrosarcoma protuberans: A case report.
Pathol Res Pract. 2016; 212(2):145-7 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma with a tendency for local recurrence, which commonly presents as a slowly growing flesh-colored skin lesion without epidermal invasion but with intracutaneous and subcutaneous spread. Pathologically, the tumor generally presents with an infiltrating dermal mass containing closely packed fibroblasts arranged in a storiform pattern. Several uncommon growth patterns have been described, including sclerosing, atrophic, myxoid, pigmented, giant cell-rich, granular cell, herringbone pattern and palisading/Verocay body-prominent forms. To our knowledge, only five cases of DFSP with nuclear palisading/Verocay body formation have been reported in the literature, and no t(17:22) translocation study has been done on these cases. In this report we describe such a case with negative t(17:22) translocation.
Related: Skin Cancer

Van Steenkiste E, Van Laethem A, Biesemans G, Pans S
Role of diffusion-weighted magnetic resonance imaging in the evaluation of scalp dermatofibrosarcoma protuberans.
Int J Dermatol. 2016; 55(2):226-31 [PubMed] Related Publications
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare tumor that grows with tentacle-like projections. In particular, on the scalp this could explain the frequent incomplete resections and the high rate of multiple local recurrences. Adequate pre- and postoperative imaging methods to visualize these prolongations are required to determine the extent of the tumor and to intercept recurrences in a short time base.
METHODS: A retrospective study was performed on two cases of multiple recurrent scalp DFSP. The use of diffusion-weighted imaging (DWI) for pre- and postoperative assessment of DFSP was evaluated.
RESULTS: Diffusion-weighted imaging magnetic resonance imaging was able to visualize the horizontal extent of tumor prolongations in the periosteum. Also, residual tumor tissue was distinguished from scar tissue in a large area of previous surgical interventions.
CONCLUSION: We found DWI magnetic resonance imaging a valuable tool in planning the multidisciplinary therapeutic approach and follow-up of DFSP on the scalp.
Related: Head and Neck Cancers Head and Neck Cancers - Molecular Biology Skin Cancer

Hakozaki M, Yamada H, Hasegawa O, et al.
Radiologic-Pathologic Correlations of Fibrosarcomatous Dermatofibrosarcoma Protuberans With Various Histological Features on Enhanced MRI and PET/MRI.
Clin Nucl Med. 2016; 41(3):241-3 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a cutaneous tumor of intermediate-grade malignant potential, and it rarely shows dedifferentiation to high-grade fibrosarcoma, which is called "fibrosarcomatous DFSP." We present the enhanced MRI and PET/MRI findings and our comparison with pathological findings in a case of fibrosarcomatous DFSP with various histological features.
Related: Skin Cancer

Kim BJ, Kim H, Jin US, et al.
Wide Local Excision for Dermatofibrosarcoma Protuberans: A Single-Center Series of 90 Patients.
Biomed Res Int. 2015; 2015:642549 [PubMed] Free Access to Full Article Related Publications
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP), a rare low-grade sarcoma of fibroblast origin, tends to extend in a finger-like fashion beyond macroscopic tumor margins. Therefore, incomplete removal and subsequent recurrence are common. This study aimed to determine the efficacy of wide local excision (WLE) for controlling local recurrence of DFSP.
METHODS: The medical records of 90 DFSP patients who received WLE at our hospital between June 1992 and January 2015 were retrospectively reviewed. WLE was conducted including a 3 cm (range, 1 to 5 cm) safety margin according to tumor size, location, and recurrence status. Clinical and tumor characteristics and surgical methods were evaluated for risk factor analysis and local recurrence-free survival.
RESULTS: DFSP occurred most often in patients in their 30s (30%) and on the trunk (51.1%). Five patients (5.5%) experienced local recurrence during the 43.4-month follow-up period. Recurrence was found at a mean of 10.8 months after WLE. Although no factors were significantly associated with recurrence, recurrences were more frequent in head and neck. Recurrence-free survival was 87% in 6 years and 77% in 7 years.
CONCLUSIONS: WLE with adequate lateral and deep margins can effectively control local recurrence rate and is a simple and effective method to treat DFSP.

Woo KJ, Bang SI, Mun GH, et al.
Long-term outcomes of surgical treatment for dermatofibrosarcoma protuberans according to width of gross resection margin.
J Plast Reconstr Aesthet Surg. 2016; 69(3):395-401 [PubMed] Related Publications
BACKGROUND: Controversy exists regarding appropriate surgical treatment for dermatofibrosarcoma protuberans (DFSP). The purpose of this study was to propose treatment recommendations based on long-term outcomes of surgical treatments for DFSP.
METHODS: A total of 63 patients who underwent surgical resection for primary DFSP were retrospectively reviewed from 1999 to 2011. They were classified into three groups based on the width of the gross resection margins: group I with marginal excision (14 patients); group II with resection margins < 3 cm (21 patients); and group III with resection margins ≥ 3 cm (28 patients) (group II and group III had wide local excision).
RESULTS: The median follow-up period was 65 months (range 31-190 months). The marginal excision group showed a significantly higher recurrence rate than the wide excision group (35.7% vs. 0%, p < 0.001). Among wide excision groups, group III showed a significantly higher requirement for reconstructive surgery than group II (82.7% vs. 52.4%, p = 0.011), yet both groups had no recurrence and pathologic margin status was comparable. The accuracy rate of frozen section analyses was 100% for the margin status in the wide excision group. Adjuvant radiation was significantly associated with a reduced recurrence in the marginal excision group (0% vs. 60%, p = 0.016).
CONCLUSIONS: Wide local excision with margins of 1.5-2 cm along with frozen biopsy is recommended for DFSP. Either re-excision or adjuvant radiation therapy can serve as a treatment option for patients with positive margins.
Related: Skin Cancer

Bonadies A, Elia F, Solivetti FM, et al.
Electrochemotherapy of a Multirecurrent Dermatofibrosarcoma Protuberans of the Orbital Margin: A Case Report.
Anticancer Res. 2015; 35(11):6121-6 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is an uncommon cutaneous sarcoma with high recurrence rate. Radical surgery is the treatment of choice, although in cosmetically-sensitive areas such as the head and neck, this option is often not pursued. Electrochemotherapy (ECT) is a minimal invasive anti-tumor modality which is increasingly being used to treat skin metastases from different malignancies. A 31-year-old woman presented with subcutaneous local multirecurring DFSP located at the proximal end of the left eyebrow. ECT was offered as a palliative treatment to avoid radical disfiguring surgery. Two days following ECT, the patient was discharged in good general health. Partial tumor regression was appreciable at two months' follow-up by ultrasound and magnetic resonance imaging. At six months, residual fibrotic tissue was observed; at three years, no evidence of the tumour was detected. In our case, ECT achieved good local tumor control with excellent cosmetic results, preserving the patient's quality of life.
Related: Skin Cancer

Smith EH, Lan TT, Jo VY, et al.
Dermatofibrosarcoma Protuberans in a Patient With Cowden Syndrome: Revisiting the PTEN and PDGF Pathways.
Am J Dermatopathol. 2016; 38(4):e40-3 [PubMed] Related Publications
PTEN hamartoma tumor syndrome, of which Cowden syndrome (CS) is the most recognized variant, is characterized by multiple benign and malignant tumors of ectodermal, mesodermal, and endodermal origins, secondary to germline mutation in the phosphatase and tensin homolog (PTEN) gene. Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive malignant fibroblastic/myofibroblastic tumor of the skin, characterized by the t(17:22)(q22:q13) translocation resulting in fusion of the COL1A1 and PDGFB genes. An association between CS and DFSP has not been reported in the literature to date. The authors have encountered a male patient with CS and a history of DFSP that developed adjacent to a sclerotic fibroma on the parietal scalp, both excised at age 7. He presented at age 21 with an enlarging pink nodule at the same site on the parietal scalp. Excision revealed a dermal and subcutaneous storiform spindle cell proliferation with fat entrapment and positive staining for CD34, consistent with DFSP. Fluorescence in situ hybridization confirmed PDGFB gene rearrangement. PTEN expression in the patient's recurrent DFSP was nearly absent when compared with that of sporadic DFSP. To our knowledge, this is the first report of DFSP in a patient with CS. Although the association is likely to be coincidental, the authors revisited the PTEN and the PDGF pathways to speculate any possible interplay of the 2 conditions on a molecular level.
Related: Cowden Syndrome FISH PTEN PDGFB Signal Transduction Skin Cancer

Mahajan BB, Sumir K, Singla M
Metastatic dermatofibrosarcoma protuberans: A rare case report from North India.
J Cancer Res Ther. 2015 Jul-Sep; 11(3):670 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a low-grade tumor with rare metastasis. A 26-year-old male presented with multiple cutaneous nodular lesions of DFSP since 3 months along with distant metastasis to the brain, pleura, and muscles that were detected on investigations. The case is being reported due to its rare disseminated cutaneous with systemic metastasis.
Related: Skin Cancer

Wiszniewska J, Roy A, Masand RP
Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features.
Am J Dermatopathol. 2016; 38(3):226-30 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a low-to-intermediate grade infiltrative dermal neoplasm with a predilection for the trunk and extremities. DFSP in the vulvar region is extremely rare, with fewer than 50 cases reported to date in the literature. The histologic diagnosis of this neoplasm is facilitated by the characteristic storiform pattern of spindle cells with infiltration into the subcutaneous fat in a "honeycomb" pattern. However, morphologic variants including the very rare myxoid DFSP have been recognized that pose significant diagnostic difficulties, especially when they occur at unusual sites. The authors describe a case of myxoid DFSP of the vulva in a 44-year-old woman that was initially misdiagnosed as a neurofibroma. Subsequent excision led to significant challenges in diagnosis due to lack of typical morphology and unusual immunohistochemical staining pattern. Presence of peripheral adipose tissue trapping was noted focally that led to suspicion of DFSP. The diagnosis was confirmed by the detection of the characteristic COL1A1/PDGFB fusion transcript by reverse-transcription polymerase chain reaction. This case underscores the diagnostic challenge presented by variants of DFSP presenting in unusual locations and the value of molecular confirmation of the diagnosis.
Related: Skin Cancer Vulva Cancer

Basu S, Goliwale F
18F-FDG PET/CT Prediction of an Aggressive Clinical Course for Dermatofibrosarcoma Protuberans.
J Nucl Med Technol. 2016; 44(2):88-9 [PubMed] Related Publications
The ability to assess tumor biology is a benefit of molecular imaging with (18)F-FDG PET/CT, which performs better than anatomic imaging in evaluating malignancies. We present an unusual case of fatal dermatofibrosarcoma protuberans, a usually indolent entity for which high-grade (18)F-FDG uptake was predictive of an aggressive clinical course unabated by tyrosine kinase inhibitor imatinib mesylate, to which the patient showed a poor response.

Tan YG, Chia CS, Loh WL, Teo MC
Single-institution review of managing dermatofibrosarcoma protuberans.
ANZ J Surg. 2016; 86(5):372-6 [PubMed] Related Publications
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare locally advanced soft-tissue tumour that is often misdiagnosed at presentation, resulting in inadequate initial resection, requiring multiple resections and reconstructive procedures. We reviewed our experience and treatment outcomes with this tumour and propose a treatment strategy.
METHODS: A retrospective study on 25 patients with 26 lesions treated from 1997 to 2013 was conducted.
RESULTS: The median age of presentation was 44 years old and the median lesion size was 3.0 cm. The median number of resections required to achieve clear margins was 2. Eight per cent of lesions in the head and neck required a second surgery, significantly more than other regions (P = 0.004). Five patients had frozen section performed that allowed immediate re-resection in all to obtain clear margins in 80% when final histology returned. Fourteen patients (56%) required reconstruction following wide excision, five of whom had DFSP in the head and neck. Four patients developed a local recurrence and had a repeat wide excision. The median time to recurrence was 11.3 months. Median follow-up time was 29.8 months.
CONCLUSION: Wide local excision with 2-cm gross margins remains the mainstay of treatment. Lesions in the head and neck region tend to have smaller margins and a greater likelihood of positive margins. We propose that the initial resection must be aggressive, even if a flap is necessitated. Frozen section histology with immediate re-resection reduces the need for repeat surgeries. Primary closure is ideal; but in areas where complex reconstruction is required, it is prudent to delay until final histology has cleared the margins.
Related: Skin Cancer

Xu WJ, Wang JS
Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair.
Int J Clin Exp Pathol. 2015; 8(6):7457-63 [PubMed] Free Access to Full Article Related Publications
Dermatofibrosarcoma protuberans (DFSPs) is an uncommon dermal tumor of intermediate to low-grade malignancy. A few patients have clinically persistent plaques that might be atrophic, and they are difficult to be diagnosed clinically. With the development of cytogenetic and molecular biology techniques, the detection of fusion transcripts of the collagen type 1a1 (COL1A1) and platelet-derived growth factor-BB (PDGFB) genes has been recognized as a reliable and valuable molecular tool for the diagnosis of DFSPs. We reported a 24-year-old woman who had a 2 years history of atrophic DFSPs, and detected the gene fusion between COL1A1 to PDGFB by one-step method of RT-PCR using only a single primer pair. The gene fusion detected by this rapid and efficient one-step method in our patient appears to be the first report of atrophic DFSPs, and we detected a novel COL1A1 breakpoint between exon 2 and exon 3.
Related: Skin Cancer

Stacchiotti S, Pantaleo MA, Negri T, et al.
Efficacy and Biological Activity of Imatinib in Metastatic Dermatofibrosarcoma Protuberans (DFSP).
Clin Cancer Res. 2016; 22(4):837-46 [PubMed] Related Publications
PURPOSE: To report on imatinib mesylate (IM) in patients with metastatic dermatofibrosarcoma protuberans (DFSP)/fibrosarcomatous (FS)-DFSP and on the impact of the treatment on tumor biology.
EXPERIMENTAL DESIGN: Ten consecutive patients treated with IM from 2007 to 2015 for a metastatic relapse from DFSP/FS-DFSP were identified. FISH analysis for COL1A1-PDGFB was performed. Two IM-treated and 4 naïve FS-DFSP were transcriptionally profiled by RNAseq on HiScanSQ platform. Differential gene expression was analyzed with edgeR (Bioconductor), followed by hierarchical clustering and Principal Component Analysis.
RESULTS: All cases featured fibrosarcomatous in the metastasis and retained the COL1A1-PDGFB. Best RECIST response was: 8 partial response, 1 stable disease, and 1 progressive disease. Median progression-free survival was 11 months. Five patients received surgery after IM and all relapsed. IM was restored in 4 patients with a new response. After IM, the most upregulated genes included those encoding for immunoglobulins and those affecting functions and differentiation of endothelial cells. Pathway enrichment analysis revealed upregulation in genes involved in antigen processing and presentation, natural killer-mediated cytotoxicity, and drug and xenobiotics metabolism. Conversely, a significant down-regulation of kinase signaling pathways was detected.
CONCLUSIONS: All metastatic cases were fibrosarcomatous. Most patients responded to IM, but PFS was shorter than reported in published series which included both DFSP and FS-DFSP. All patients operated after IM had a relapse, suggesting that IM cannot eradicate metastatic cases and that the role of surgery is limited. Transcriptional profile of naïve and posttreatment samples pointed the contribution of immune infiltrates in sustaining the response to IM.
Related: Skin Cancer

Saiag P, Grob JJ, Lebbe C, et al.
Diagnosis and treatment of dermatofibrosarcoma protuberans. European consensus-based interdisciplinary guideline.
Eur J Cancer. 2015; 51(17):2604-8 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a skin fibroblastic tumour that is locally aggressive, with a tendency for local recurrence, but rarely metastasizes. A unique collaboration of multi-disciplinary experts from the European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO) and the European Organization of Research and Treatment of Cancer (EORTC) was formed to make recommendations on DFSP diagnosis and treatment, based on systematic literature reviews and the experts' experience. Diagnosis is suspected clinically and confirmed by pathology. Analysis by fluorescence in situ hybridisation (FISH) or multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) to detect specific chromosomal translocations and fusion gene transcripts is useful to confirm a difficult DFSP diagnosis. Treatment is mainly surgical, with the aim to achieve complete resection of the tumour. In order to reduce the recurrence rate, the treatment of choice of DFSP seems to be Mohs' micrographic surgery (MMS) and related variants. In hospitals where only standard histopathological procedures are available, standard excision with lateral safety margin of 3cm is advisable. Imatinib (Glivec®) is approved in Europe for the treatment of inoperable primary tumours, locally inoperable recurrent disease, and metastatic DFSP. Imatinib has also been given to patients with extensive, difficult-to-operate tumours for preoperative reduction of tumour size, but the usefulness of this attitude should be confirmed by clinical trials. Therapeutic decisions for patients with fibrosarcomatous DFSP should be primarily made by an interdisciplinary oncology team ('tumour board').
Related: FISH Skin Cancer

Zhang L, Liu QY, Cao Y, et al.
Dermatofibrosarcoma Protuberans: Computed Tomography and Magnetic Resonance Imaging Findings.
Medicine (Baltimore). 2015; 94(24):e1001 [PubMed] Free Access to Full Article Related Publications
The aim of this study was to analyze the computed tomography (CT) and magnetic resonance imaging (MRI) findings of dermatofibrosarcoma protuberans (DFSP), with a view to improving the diagnosis of this kind of tumor. A total of 27 cases of histopathologically confirmed DFSP were analyzed retrospectively. Of these, 18 patients underwent a CT scan and 9 patients underwent an MRI. All patients underwent unenhanced and contrast-enhanced examinations; 1 patient underwent multiphrase CT enhancement examination. Imaging characteristics, including location, shape, size, number, edge, and attenuation or intensity of each lesion, both unenhanced and contrast enhanced, were analyzed. Of the 27 cases, 24 were solitary, 2 had 2 nodules, and 1 had multiple confluent tumors. The lesion with multiple confluent tumors was ill defined and irregular; the other lesions were oval or round, well-defined nodules or masses. The unenhanced CT images showed 19 homogenous isodense lesions. There was no calcification in any of the patients. The contrast-enhanced CT images showed intermediate and marked nonhomogeneous enhancement in 13 lesions, intermediate homogeneous enhancement in 4 lesions, and a mild heterogeneous enhancement in 2 lesions. MR T1-weighted images revealed 1 ill-defined and 9 well-defined homogeneous isointense lesions. T2-weighted images showed homogeneous hyperintensity to the muscles in 6 lesions, 3 mild hyperintense lesions with hypointense lesions, and 1 mixed, mild hyperintense and isointense lesion. Contrast-enhanced T1-weighted images demonstrated intermediate and marked nonhomogeneous enhancement in 9 lesions and intermediate homogeneous enhancement in 1 lesion. DFSP is characterized by a subcutaneous well-defined soft tissue nodule or mass on plain CT/MR scans, and shows intermediate-to-marked enhancement on contrast-enhanced CT/MR scans. The imaging findings for DFSP are nonspecific, but may help to define the diagnosis in an appropriate clinical setting.
Related: Skin Cancer

Socoliuc C, Zurac S, Andrei R, Stăniceanu F
Multiple Histological Subtypes of Dermatofibrosarcoma Protuberans Occurring in the Same Tumor.
Rom J Intern Med. 2015 Jan-Mar; 53(1):79-88 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) represents a low-grade cutaneous sarcoma which may have different histological aspects, presenting as a fibrosarcomatous, pigmented, juvenile, myxoid, atrophic, sclerosing or myoid lesion. Some of these subtypes may occur isolated or in association with one of the others creating hybrid lesions. We present the case of a 66 years old woman having a 4 cm diameter tumor located on the abdominal wall. Histopathological examination of the resection specimen revealed areas of typical DFSP associated with fibrosarcomatous transformation, myoid and myxoid areas. Also, focally, pleomorphic tumor cells and foreign-body type multinucleated giant cells were observed. Immunostains revealed CD34 positivity in typical DFSP and myxoid areas with negative staining of some of the tumor cells in fibrosarcomatous areas and negative staining of myoid areas. Smooth muscle actin was positive in myoid areas. The nature of myoid fascicles in DFSP is a matter of debate, being uncertain whether these represent a type of tumor differentiation or a reactive myoid proliferation. In this particular case, finding the association of myoid cells with blood vessel walls sustains their reactive nature. We present the morphological aspects of the different areas of the tumor with emphasis on differential diagnostic problems and clinical implications.
Related: Skin Cancer

Rutkowski P, Debiec-Rychter M
Current treatment options for dermatofibrosarcoma protuberans.
Expert Rev Anticancer Ther. 2015; 15(8):901-9 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is rare, infiltrating dermal neoplasm, characterized by indolent growth and low probability of metastases. The critical event in DFSP development is the rearrangement of chromosome 17 and 22, leading to transcriptional up-regulation of platelet-derived growth factor, providing an autocrine and/or paracrine stimulus. The cornerstone of treatment for localized DFSP is complete surgical resection with microscopically negative margins. Adjuvant radiotherapy is suggested in cases of positive margins when re-excision is not feasible. The first effective systemic therapy in DFSP introduced into clinical practice was imatinib, demonstrating dramatic activity in advanced cases. Current results indicate that some DFSP patient initially evaluated as unresectable/metastatic or necessitating mutilating surgery turned resectable after imatinib therapy and this rational approach leading to complete remission maybe potentially curative. The clinical experience with other tyrosine kinase inhibitors is limited and imatinib remains the gold standard treatment of locally unresectable/metastatic DFSP. This review summarizes state of the art and perspectives on the DFSP management.
Related: Skin Cancer

Lin CT, Chang SC, Chen TM, et al.
Postradiation dermatofibrosarcoma protuberans : case report and literature review.
Acta Chir Belg. 2015 Jan-Feb; 115:87-90 [PubMed] Related Publications
Radiotherapy has long been known to induce soft tissue sarcomas. However, there are only six cases of postradiation dermatofibrosarcoma protuberans (DFSP) reported in the literature, and no case in Asians has been reported so far. Herein, we report a case of DFSP, confirmed by immunohistochemistry, which developed on the old scar at the irradiated right chest wall of an Asian woman. We performed a radical surgical excision of the lesion and covered the defect with latissimus dorsi island myocutaneous flap followed the surgical treatment. 12 months postoperatively, the patient leads a good result without signs of recurrence.
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Castriconi M, Antropoli M, Grillo M, et al.
Unusual bleeding of a giant cell fibroblastoma: a soft tissue sarcoma of the skin mimicking metastatic melanoma.
Ann Ital Chir. 2015; 86(ePub) [PubMed] Related Publications
A 56 year-old man presented to the emergency department after a spontaneous bleeding of a giant mass located on the right axilla. Clinical diagnosis was recurrent hemorrhagic nodular melanoma. Ten months previously a malignant melanoma had been removed from the dorsum by radical excision and surgical margins had been disease-free (MM: Breslow IV, Clark IV, lung and lynphnode metastases). The patient required immediate emergency surgical intervention to prevent death by hemorrhagic shock. The tumor was bleeding and the patient required a transfusion. Subjective symptoms included pain in palpation and spontaneous hemorrhage, poor general appearance, pale skin, BP 80/40 mmHg, HR 100/min with overall symptoms of hypovolemic shock. At the time of surgery, radical tumor excision was performed with an approximately 3 cm circumferential gross tumor free margin. The resultant defect was reconstructed by pectoral rotation fascio-cutaneous flap. The histological diagnosis demonstrated an undifferentiated high-grade pleomorphic sarcoma with microscopic tumor free margins.
Related: Skin Cancer

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