PubMed Central search for free-access publications about Skin, Dermatofibrosarcoma Protuberans MeSH term: Dermatofibrosarcoma US National Library of Medicine PubMed has over 22 million citations for biomedical literature from MEDLINE, life science journals, and online books. Constantly updated.
DermIS Includes photos of Dermatofibrosarcoma Protuberans. DermIS.net is a dermatology information service (multilingual support; English, German, Spanish, French and other languages). It is a collaboration between two German Universities (Heidelberg and Erlangen).
National Cancer Intelligence Network A brief report on population-based data for rare skin cancers, including Merkel Cell Carcinoma and Dermatofibrosarcoma. It includes number of cases by histology incidence rates and trends in incidence over the 10 year period 1999 to 2008. Published 2011. Merkel Cell Carcinoma
This list of publications is regularly updated (Source: PubMed).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Suman S, Sharma P, Jain TK, et al. Recurrent dermatofibrosarcoma protuberans with pulmonary metastases presenting twelve years after initial diagnosis: 18F-FDG PET/CT imaging findings. Clin Nucl Med. 2014; 39(1):77-8 [PubMed] Related Publications
Dermatofibrosarcoma protuberans is a rare cutaneous tumor that is locally aggressive and has a high rate of recurrence after surgical excision. The tumor grows slowly, typically over years. On rare occasions, metastasis to distant sites (especially the lung) or regional lymph nodes may occur. Here, we present F-FDG PET/CT imaging findings of a 52-year-old man with a local recurrence of dermatofibrosarcoma protuberans in the anterior abdominal wall with metastases to bilateral lungs.
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.
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.
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.
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.
Agostini T, Dini M, Quattrini Li A, et al. A novel combined surgical approach to head and neck dermatofibrosarcoma protuberans. J Craniomaxillofac Surg. 2013; 41(7):681-5 [PubMed] Related Publications
INTRODUCTION: The surgical management of dermatofibrosarcoma protuberans has historically been a challenge, particularly in the head and neck and other aesthetic areas. The current priority is to achieve local oncologic control and a good reconstructive outcome. Here, we present our experience using a novel combined approach with a dermal regenerative template, sub-atmospheric pressure and skin graft. MATERIALS AND METHODS: Five patients presenting at the Department of Plastic and Reconstructive Surgery of the University of Florence between January 2010 and October 2011 were included in the study following Institutional Review Board approval. All patients underwent a wide local excision of dermatofibrosarcoma protuberans affecting the head and neck. RESULTS: The combined approach using the negative-pressure device, a dermal regenerative template and skin grafting proved effective in the management of this type of sarcoma with a good aesthetic and functional outcome, particularly on the neck or the supraclavicular region. CONCLUSION: Although the present multi-step technique requires patient compliance, it results in good local oncologic control of the resection margins. It is possible to perform a wider excision in the event of positive margins without interfering with the last reconstructive outcome.
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.
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.
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.
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).
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.
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.
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.