Case Of Dermatofibrosarcoma Protuberans Research Articles

Dermatofibrosarcoma protuberans of the vulva: margins assessment and reconstructive options - a report of two cases.

BackgroundDermatofibrosarcoma Protuberans (DFSP) of the vulva is rare and oncologic surgery with free margins may lead to severe functional damage, requiring multidisciplinary approach regarding resection, margin assessment and reconstruction.Case ReportTwo cases of DFSP in vulva were treated in a single institution. A 28-year-old patient with an incisional biopsy in the vulvar region revealing DFSP underwent a partial vulvectomy with clitoris preservation. Pathological studies revealed free margins and reconstructive surgery was performed. This patient is disease free in a 40 months follow up. The other, a 57-year-old patient was also referred after an incomplete resection of a DFSP in the vulvar region. A 1-cm margim resection followed by Complete Circumferential and Peripheral Deep Margin Assessment (CCPDMA) was performed. Although the upper lateral margin was positive, it was possible to perform another wide local excision with preservation of the clitoris and primary closure.ConclusionDFSP of the vulva requires an accurate evaluation of margins, resections following oncological principles and reconstruction. Although being a very challenging lesion that usually implies difficult surgical management, if treated in a multidisciplinary environment, with surgical oncologists, experienced dermatopathologists and reconstructive surgeons can achieve good results. Even in difficult cases that presents with large lesions and compromising challenging areas, a complete oncologic resection can be performed minimizing functional damage for the patient.Electronic supplementary materialThe online version of this article (doi:10.1186/1477-7819-12-399) contains supplementary material, which is available to authorized users.

CT and MR Imaging Findings of Perianal Dermatofibrosarcoma Protuberans Mimicking Mucinous Adenocarcinoma Arising from Fistula in Ano: A Case Report

Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue tumor with a low malignant potential and a high local recurrence rate after surgical excision (1). DFSP can be found anywhere on the body, but is often found on the chest and shoulders (1). DFSP arises in the dermis and invades deeper tissues such as fascia, muscle and bone (1, 2). Due to its tendency for local invasion and asymmetric spread, DFSP in the perianal area can extend to the anal sphincter and show similar imaging findings to those of a malignant tumor arising from the anorectal fistula. However, DFSP in the perianal area is extremely rare, and only one case has been reported in the English medical literature (3). To the best of our knowledge, there is no report regarding the detailed imaging findings of DFSP radiologically mimicking mucinous adenocarcinoma arising from the anorectal fistula. We present an extremely rare case of perianal DFSP mimicking mucinous adenocarcinoma arising from fistula in ano, and focus on the CT and MR imaging findings. This report was approved by the ethics committee at our institution, and the requirement for informed consent was waived.

Repeated local recurrence of dermatofibrosarcoma protuberans in the anterior chest wall of a child

Dermatofibrosarcoma protuberans (DFSP) is a very rare, low-intermediate-grade sarcoma of the dermis layer of the skin; it has a marked propensity for local recurrence after excision. It is typically diagnosed during early adult life at a tumoral stage and it occurs rarely in children. This report is a case of childhood DFSP that had recurred five times within a period of eight years, each following surgical excision. This tumor also showed an uncommon myxoid change: Appearing as larger multi-nodular cutaneous plaque that arose at the site of excision of previous tumors some years earlier. The rarity of this tumor, and the fact that it is even rarer in children, prompted the report of this case.

Dermatofibrosarcoma protuberans of the breast in a male: A case report and review of the literature

Dermatofibrosarcoma protuberans (DFSP) of the breast is quite rare. Even rarer is DFSP of the male breast. The purpose of this article is to report a case of DFSP of the left breast in a 32-year-old man. This is with a view to creating awareness about this rare clinical condition. This is expected to aid clinicians in making an early diagnosis and ensuring prompt management of the condition.

Dermoscopy of dermatofibrosarcoma protuberans: a study of 15 cases

Dermatofibrosarcoma protuberans (DFSP) is a rare malignant cutaneous tumour of which diagnosis is often delayed because of the lack of early clinical clues. To describe the main dermoscopic features of DFSP. 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. 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. 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.

A Case of Dermatofibrosarcoma Protuberans of the Trunk.

Dermatofibrosarcoma protuberans is a rare, usually superficial soft tissue sarcoma, which is diagnosed by its typical clinical manifestations. We report a case of histopathologically proved dermatofibrosarcoma protuberans of the left upper posterior trunk in a 35-year-old female for whom complete surgical resection was done.

Reducing surgical margins in dermatofibrosarcoma protuberans using the pathological analysis technique ‘vertical modified technique’: A 5-year experience

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. 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. 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. 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.

PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications

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.

The distinct autocrine PDGF signals in dermatofibrosarcoma protuberans can aid in differential diagnosis from other mesenchymal tumors

Dermatofibrosarcoma protuberans (DFSP) is an intermediate grade malignancy of subcutis with frequent local recurrences. The histological diagnosis is sometimes difficult to differentiate from other mesenchymal tumors including dermatofibroma (DF) and more serious fibrosarcoma. Last year we reported a novel gene fusion in a DFSP cell occurring at the exon 26 of collagen1α2 (COL1A2) fused in frame with the exon 2 of PDGF–B gene. We also noticed the presence of known chromosomal fusion between COL1A1 and PDGF–B in some other DFSP cases.

Expression of MMP-2, MMP-9 and MMP-11 in dermatofibroma and dermatofibrosarcoma protuberans

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

Epidemiology of Dermatofibrosarcoma Protuberans in Alberta, Canada, from 1988 to 2007

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

Vascular Congenital Dermatofibrosarcoma Protuberans

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

Atrophic dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is an uncommon malignant mesenchymal tumor that arises in the dermis and is characterised by latency in its initial detection. As a rare form, atrophic or morphea-like DFSP has been documented. Atrophic DFSP resemble other benign lesions such as morphea, idiopathic atrophoderma, atrophic scar, anetoderma or lipoatrophy. It behaves like classic DFSP. It commonly favours young to middle aged adults. It has a slow infiltrative growth and a high rate of local recurrence if not completely excised. Metastases are rare and occur after repeated local recurrence. Surgical excision is the best line of treatment. Long term follow up is required to detect recurrence. We report a case of atrophic DFSP in a 52-year-old female patient. Diagnosis was achieved according to clinical, histopathological and immunohistochemical findings. Tumor was surgically excised with safety margin and the patient is still under follow up. Atrophic DFSP is a rare variant of DFSP. It is a tumor of low to moderate grade malignancy. Surgical excision is the best line of management. Long term follow up is necessary.

Pseudocystic dermatofibrosarcoma protuberans: report of two cases and demonstration of COL1A1-PDGFB rearrangement

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

Dermatofibrosarcoma protuberans of the breast: a case report

Dermatofibrosarcoma protuberans (DFSP) is an uncommon mesenchymal tumour of the dermis and subcutis, which most commonly appears on the body and the extremities. Its occurrence in the breast is rare, and when it does, it can mimic a primary, benign breast lesion. We present a case of DFSP over the breast of a patient together with the associated imaging findings that can potentially help us differentiate this tumour from a primary breast lesion. The awareness of this entity allows a prompt diagnosis to be made and the disease to be properly managed.

A case of childhood dermatofibrosarcoma protuberans of the face

We report an extremely rare case of dermatofibrosarcoma protuberans located on the face of an 8-year-old boy. Although dermatofibrosarcoma protuberans typically has intermediate malignancy, the tumor in the present case was highly invasive and required a multistaged operation, including wide resection and full-thickness skin grafting. These operations were successfully performed, and the patient is alive without recurrence for 7 years.

Correlation Between Preoperative Magnetic Resonance Imaging and Surgical Margins with Modified Mohs for Dermatofibrosarcoma Protuberans

Dermatofibrosarcoma protuberans (DFSP) is characterized by asymmetrical and poorly defined growth. Magnetic resonance imaging (MRI) has been proposed for the delimitation of this tumor. To study the utility of MRI in evaluating the depth of infiltration in DFSP and to compare the efficiency of clinical palpation with that of MRI in delimiting the invasiveness of DFSP. Observational, prospective study of DFSP cases. The MRI scans for all cases were compared with the exact histological infiltration plane obtained using modified Mohs micrographic surgery (MMS). Forty-three DFSPs were included: 22 primary, nine recurrent, and 12 extirpated with positive margins. Sensitivity for detecting deep invasion was 58% on examination using palpation and 67% using MRI. We present the largest series of DFSP cases studied using MRI published to date. In primary cases, MRI has greater sensitivity than palpation for detecting depth of infiltration (67% vs 58%). MRI seems to be useful in primary DFSP in locations other than the head, neck, and upper part of the thorax. MRI is not useful for confirming tumor persistence in extirpated DFSP with positive margins or for studying lateral extension in primary DFSP.

MUC4 Is a Highly Sensitive and Specific Marker for Low-grade Fibromyxoid Sarcoma

Low-grade fibromyxoid sarcoma (LGFMS) is a distinctive fibroblastic neoplasm that is characterized by alternating collagenous and myxoid areas, deceptively bland spindle cell morphology, a whorling architecture, and a t(7;16) translocation involving FUS and CREB3L2. Owing to variable morphology and a lack of discriminatory markers, LGFMS can be difficult to distinguish from benign mesenchymal tumors and other low-grade sarcomas. Gene expression profiling has identified differential upregulation of the mucin 4 (MUC4) gene in LGFMS compared with histologically similar tumors. MUC4 is a transmembrane glycoprotein that functions in cell growth signaling pathways; aberrant MUC4 expression has been reported in various carcinomas. We investigated MUC4 protein expression by immunohistochemistry in LGFMS and in other soft tissue tumors to determine the potential diagnostic use of this novel marker. Whole-tissue sections of 309 tumors were evaluated: 49 LGFMSs (all with FUS gene rearrangement confirmed by fluorescence in situ hybridization), 40 soft tissue perineuriomas, 40 myxofibrosarcomas, 20 cellular myxomas, 20 solitary fibrous tumors, 20 low-grade malignant peripheral nerve sheath tumors, 20 cases of desmoid fibromatosis, 20 neurofibromas, 20 schwannomas, 20 monophasic synovial sarcomas, 20 cases of dermatofibrosarcoma protuberans, 10 myxoid liposarcomas, and 10 extraskeletal myxoid chondrosarcomas. The LGFMS cases included 7 with marked hypercellularity, 4 with prominent hemangiopericytoma-like vessels, 3 with giant collagen rosettes, 3 with epithelioid morphology, 2 with focal nuclear pleomorphism, and 2 with areas of sclerosing epithelioid fibrosarcoma. All 49 LGFMS cases (100%) showed cytoplasmic staining for MUC4, which was usually diffuse and intense. All the other tumor types were negative for MUC4, apart from 6 (30%) monophasic synovial sarcomas. In conclusion, MUC4 is a highly sensitive and quite specific immunohistochemical marker for LGFMS, and can be helpful to distinguish this tumor type from histologic mimics.

IGFBP7, a novel immunohistochemical marker in differentiating dermatofibroma from dermatofibrosarcoma protuberans

Loss of insulin-like growth factor-binding protein 7 (IGFBP7) has been found to be a critical step in the development of melanoma and colon cancer. To our knowledge, immunostaining of IGFBP7 in various dermatofibrosarcoma protuberans (DFSP) and dermatofibroma (DF) has not been studied before. To assess the immunostaining of IGFBP7 in DFSPs and DFs and to ascertain whether IGFBP7 is superior to antibodies traditionally used in differentiating DFs from DFSPs. Immunohistochemical staining was performed on 28 cases of DFSP and 30 cases of DF, using antibodies to IGFBP7, CD34, factor XIIIa (FXIIIa), CD10 and stromelysin-3 (ST-3). Six of 28 (21.4%) DFSP samples were positive for IGFBP7, whereas 28 of 30 (93.3%) DF samples were positive. CD34 was positive in 26 of 28 (92.9%) cases of DFSP and 4 of 30 (13.3%) cases of DF. FXIIIa staining was positive in 4 of 28 (14.3%) cases of DFSP and 28 of 30 (93.3%) cases of DF. CD10 staining was positive in 12 of 28 (42.9%) cases of DFSP and ST-3 staining was positive in 7 of 28 (25.0%) cases of DFSP. The preferential IGFP7 staining of DFSPs in comparison with DFs was statistically significant (P < 0.01). We confirmed that IGFBP7 is a negative immunohistochemical marker for DFSPs and the combination with CD34, FXIIIa and ST-3 immunostaining could make the distinction more reliable.

Dermatofibrosarcoma protuberans with fibrosarcomatous transformation of the head and neck

Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous neoplasm associated with a high cure rate. We present a case of aggressive DFSP with fibrosarcomatous areas in the head and neck. A 28-year-old Mediterranean female presented with a 45-day history of rapidly growing cutaneous lesion of the face. Surgical biopsy confirmed the diagnosis of DFSP. Subsequently, the patient underwent wide local surgical resection, followed by reconstruction. Histopathology report revealed fibrosarcomatous transformation and the patient underwent adjuvant radiotherapy. The patient continues to be disease free at the 35-month follow-up.Although DFSP behave as non-aggressive malignancy, surgery with complete removal of the affected area is the intervention of choice. Moreover, adjuvant treatment and follow-up of the patient is essential in order to prevent recurrence.