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Dermatofibrosarcoma Protuberans

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Skin Cancer

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Information for Health Professionals / Researchers (7 links)

Latest Research Publications

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

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.

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.

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.

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.

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.

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').

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.

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.

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.

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.

Bernárdez C, Machan S, Molina-Ruiz AM, et al.
Dermatofibrosarcoma Protuberans of the Vulva With Myoid Differentiation.
Am J Dermatopathol. 2015; 37(9):e107-11 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft-tissue tumor characterized by a relatively high risk for local recurrence and low risk for metastasis. Many histopathologic variants of DFSP have been described, including the fibrosarcomatous and myoid variants, which may obscure the diagnosis in some cases, especially when arising in unusual locations. Of all the variants described so far, the only one with prognostic relevance is the FS-DFSP variant, which implies tumor progression and a higher possibility for metastasis. The authors report a case of a giant DFSP, located on the vulvar area, which histopathologically showed areas of fibrosarcomatous and myoid differentiation, and discuss the importance of the myoid variant in regards of the debated histogenesis of DFSP.

Hussain N, Naveed MZ, Haider G
Re-recurrent Dermatofibrosarcomaprotuberans of the chest wall.
J Pak Med Assoc. 2015; 65(3):324-6 [PubMed] Related Publications
Dermatofibrosarcomaprotuberans is a rare, soft tissue tumour with high rate of recurrence. It is locally aggressive, with a low rate of metastasis. We describe the case of a 42 year old man who presented with a re-recurrent, large tumour situated on the anterior chest wall in the sternal region. We did a wide local excision and covered the resulting defect by using bilateral, pectoralis major myocutaneous flaps. Histopathology and immunohistochemical staining findings were consistent with the diagnosis of Dermatofibrosarcoma Protuberance. Post operatively the patient was treated with chemotherapy and radiotherapy.

Wang C, Luo Z, Chen J, et al.
Target therapy of unresectable or metastatic dermatofibrosarcoma protuberans with imatinib mesylate: an analysis on 22 Chinese patients.
Medicine (Baltimore). 2015; 94(17):e773 [PubMed] Free Access to Full Article Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a rare, plaque-like tumor of the cutaneous tissue occurring more on the trunk than the extremities and neck. More than 95% of DFSP present anomalies on the 17q22 and 22q13 chromosomal regions leading to the fusion of COL1A1 and PDGFB genes. Surgery is the optimal treatment for DFSP, but less effective in locally advanced or metastatic patients, as is the case with chemotherapy and radiotherapy. The aim of this study was to assess retrospectively the therapeutic activity and safety of imatinib on 22 Chinese patients with locally inoperative or metastatic DFSP at a single institution.In the collected data of 367 Chinese patients with DFSP, we analyzed retrospectively 22 patients with locally advanced or metastatic DFSP, all of whom received imatinib therapy at 1 center from January 2009 to October 2014. Patients were administered with imatinib at an initial dose of 400 mg and escalated to 800 mg daily after they developed imatinib resistance. The median follow-up time was 36 months, and the median treatment time was 15 months.The results showed that 10 locally advanced DFSP patients and 12 metastatic DFSP patients received imatinib therapy. Apart from 1 patient who developed primary imatinib resistance, 15 patients achieved partial remission (PR), and 6 patients achieved stable disease (SD). Both fibrosarcomatous DFSP and classic DFSP patients demonstrated similar response to imatinib. Median PFS was estimated to be 19 months. Median overall survival (OS) has not been reached, and estimated 1- and 3-year OS rates were 95.5% (21/22) and 77.3% (17/22), respectively. Four out of 10 patients with primarily unresectable DFSP received complete surgical resection after neoadjuvant treatment of imatinib.Imatinib therapy is well tolerated with a safety profile and is the therapy of choice in locally inoperative or metastatic DFSP. Neoadjuvant treatment of locally advanced or metastatic DFSP with imatinib improves surgical outcomes and may facilitate resection of difficult tumors.

Bashir S, Tariq M, Aslam HM, et al.
Orbital dermatofibrosarcoma protuberans with intracranial extension preceded by recurrent leiomyoma of the orbit: a case report.
J Med Case Rep. 2015; 9:96 [PubMed] Free Access to Full Article Related Publications
INTRODUCTION: Dermatofibrosarcoma protuberans is a rare, locally aggressive cutaneous tumor of intermediate to low-grade malignancy. COL1A1-PDGFβ translocation is specific to dermatofibrosarcoma protuberans, where the abnormally fused COL1A1-PDGFβ gene directs formation of an abnormal combined (fusion) protein that researchers believe to ultimately function like the platelet-derived growth factor-beta protein.
CASE PRESENTATION: In this report, we present a case of a 63-year-old Asian man with dermatofibrosarcoma protuberans of the right orbit with intracranial extension. He had a prior history of recurrent leiomyomas at the identical site. He underwent near-total en bloc resection of the tumor through a wide craniectomy with a 6 cm rim of the frontal scalp, allowing the tumor to be resected en bloc, leaving negative margins. Microscopically, the tumor comprised spindle cells with mild nuclear atypia and a low mitotic index embedded in a spiraling pattern of decussating fascicles consistent with dermatofibrosarcoma protuberans. The lesion was positive for CD34 and BCL2. Following resection, the patient was started on imatinib mesylate therapy (800 mg/day).
CONCLUSIONS: We propose that platelet-derived growth factor, which has been implicated in the progression of leiomyomas by augmenting mitogenesis, may have acted in an autocrine manner to cause cell division, which may have led to the development of dermatofibrosarcoma protuberans in our patient. Further research is imperative to find certain molecular associations between the discussed soft tissue tumors. Also important is the effective utilization of platelet-derived growth factor receptor kinase inhibitors to prevent transformation to any platelet-derived growth factor-driven tumor, which in our patient was a dermatofibrosarcoma protuberans.

Al Tarakji M, Toro A, Di Carlo I, Junejo K
Unusual presentation of dermatofibrosarcoma protuberans in a male patient's breast: a case report and review of the literature.
World J Surg Oncol. 2015; 13:158 [PubMed] Free Access to Full Article Related Publications
We herein present a case report and literature review of dermatofibrosarcoma protuberans in the breast of a male patient. A 27-year-old man presented with a painless lump in his right breast with areas of bluish skin discoloration. The diagnostic work-up comprised clinical examination, ultrasonography, core biopsy, mammography, and magnetic resonance imaging. After surgical excision, the preoperative diagnosis of dermatofibrosarcoma protuberans was proven by pathological examination and immunohistochemistry. The patient was still free of recurrence 1 year after surgical excision. This extremely rare case is, to the best of our knowledge, the fifth such case reported in the literature.

Eilers G, Czaplinski JT, Mayeda M, et al.
CDKN2A/p16 Loss Implicates CDK4 as a Therapeutic Target in Imatinib-Resistant Dermatofibrosarcoma Protuberans.
Mol Cancer Ther. 2015; 14(6):1346-53 [PubMed] Free Access to Full Article Related Publications
Dermatofibrosarcoma protuberans (DFSP) is an aggressive PDGFB-dependent cutaneous sarcoma characterized by infiltrative growth and frequent local recurrences. Some DFSP progress to a higher-grade fibrosarcomatous form, with rapid growth and increased risk of metastasis. Imatinib provides clinical benefit in approximately 50% of patients with unresectable or metastatic DFSP. However, efficacious medical therapies have not been developed for imatinib-resistant DFSP. We established a model of imatinib-resistant DFSP and evaluated CDK4/6 inhibition as a genomically credentialed targeted therapy. DFSP105, an imatinib-resistant human cell line, was established from a fibrosarcomatous DFSP (FS-DFSP), and was studied by SNP arrays and sequencing to identify targetable genomic alterations. Findings were validated in vitro and in vivo, and confirmed in a series including 12 DFSP and 6 FS-DFSP. SNP analysis of DFSP105 revealed a homozygous deletion encompassing CDKN2A and CDKN2B. The resultant p16 loss implicated CDK4/6 as a potential therapeutic target in DFSP. We further demonstrated CDKN2A homozygous deletion in 1 of 12 conventional DFSP and 2 of 6 FS-DFSP, whereas p16 expression was lost in 4 of 18 DFSP. In vitro treatment of DFSP105 with two structurally distinct selective CDK4/6 inhibitors, PD-0332991 and LEE011, led to inhibition of RB1 phosphorylation and inhibition of proliferation (GI50 160 nmol/L and 276 nmol/L, respectively). In vivo treatment of DFSP105 with PD-0332991 (150 mg/kg) inhibited xenograft growth in mice, in comparison with imatinib-treated or -untreated tumors. In conclusion, CDKN2A deletion can contribute to DFSP progression. CDK4/6 inhibition is a preclinically effective treatment against p16-negative, imatinib-resistant FS-DFSP, and should be evaluated as a therapeutic strategy in patients with unresectable or metastatic imatinib-resistant DFSP.

Gilani S, Al-Khafaji B
Dermatofibrosarcoma protuberans of the vulva: a mesenchymal tumour with a broad differential diagnosis and review of literature.
Pathologica. 2014; 106(4):338-41 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a malignant cutaneous soft tissue tumour, which rarely presents in the vulva. We report an unusual case of this tumour involving the vulva. A 61-year-old female presented with a mass in the left mons pubis. Subsequent excisional biopsy of the mass was performed. Histologic evaluation of the specimen showed a spindle cell lesion consisting of fibroblast-like cells arranged in a storiform pattern. On average, there were 2 to 3 mitotic figures per 10 high power field (hpf). The neoplastic cells showed extension into the surrounding fibroadipose tissue. A panel of immunohistochemical stains including CD34, S-100, melan-A, HMB-45, vimentin and smooth muscle actin (SMA) were tested. The neoplastic cells showed diffuse staining with CD34 and vimentin, while the rest were negative. Based on the morphologic and immunohistochemical staining pattern, a diagnosis of DFSP was rendered. The patient underwent two subsequent resections before she had clear resection margins. The postoperative course was unremarkable. The patient is disease free without recurrence after a follow-up of 12 months. DFSP infrequently involves the vulva and should be considered in the differential diagnosis of other spindle cell lesions presenting in this unusual site. The role of immunohistochemical staining with CD34 is imperative in establishing the diagnosis. The rate of local reoccurrence is high, but it rarely shows metastasis. Treatment of choice is wide local surgical excision with close follow-up to detect reoccur- rence.

Kuzel P, Mahmood MN, Metelitsa AI, Salopek TG
A clinicopathologic review of a case series of dermatofibrosarcoma protuberans with fibrosarcomatous differentiation.
J Cutan Med Surg. 2015 Jan-Feb; 19(1):28-34 [PubMed] Related Publications
BACKGROUND: Dermatofibrosarcoma protuberans with fibrosarcomatous differentiation (DFSP-FS) is a rare variant of DFSP with a more aggressive clinical course, characterized by higher rates of local recurrence, metastasis, and death.
METHODS: We conducted a clinicopathologic review of all DFSP-FS cases that occurred in Alberta, Canada, from 1997 to 2007.
RESULTS: Of the 75 DFSP cases reviewed, 4 demonstrated fibrosarcomatous differentiation. Three patients were female and one was male, and the age range was 25 to 76 years. Three tumors invaded to skeletal muscle, whereas one invaded to subcutaneous tissue only. Although perineural invasion was noted in all four cases, none exhibited lymphovascular space invasion. One local recurrence developed, and two of four tumors metastasized. Metastasis was associated with tumor size, tumor necrosis, grenz zone involvement, ulceration, thickness, and tumor grade. One patient died within 5 years of diagnosis.
CONCLUSION: DFSP-FS represents a more aggressive subtype of DFSP. Several features of DFSP-FS may impart a higher risk of metastasis.

Brewer JD, Shanafelt TD, Call TG, et al.
Increased incidence of malignant melanoma and other rare cutaneous cancers in the setting of chronic lymphocytic leukemia.
Int J Dermatol. 2015; 54(8):e287-93 [PubMed] Related Publications
BACKGROUND: Patients with chronic lymphocytic leukemia (CLL), small lymphocytic lymphoma (SLL), or non-Hodgkin lymphoma (NHL) are at increased risk for the development of skin malignancies.
OBJECTIVES: This study was conducted to estimate the incidences of rare skin malignancies in patients with CLL/SLL or NHL.
METHODS: Patients with a diagnosis of CLL/SLL or NHL recorded in the Surveillance, Epidemiology and End Results (SEER) database during 1992-2007 were identified. Diagnoses of specific skin malignancies were identified from SEER files.
RESULTS: During 1992-2007, a total of 128,674 patients with first diagnoses of CLL/SLL or NHL were recorded in SEER; 4743 were excluded because follow-up data were unavailable. Among the remaining 123,931 patients, 28,964 had CLL/SLL and 94,967 had NHL. Standardized incidence ratios (SIRs) for invasive malignant melanoma, Merkel cell carcinoma, malignant fibrous histiocytoma, dermatofibrosarcoma protuberans, Kaposi's sarcoma, and sebaceous carcinoma were 2.3, 8.2, 3.6, 2.5, 2.9, and 1.4, respectively, in CLL/SLL patients and 1.6, 3.2, 1.5, 1.3, 17.6, and 0.8, respectively, in NHL patients. When invasive melanoma was stratified by patient age and sex, the highest SIR (17.8) was found in men aged 0-49 years with CLL (P < 0.001).
CONCLUSIONS: Patients with CLL/SLL or NHL have a higher risk for the subsequent development of rare skin cancers. Given the more aggressive nature of these malignancies in this setting, regular monitoring for the development and prompt treatment of cutaneous malignancy is prudent in patients with NHL and particularly in patients with CLL. Regular use of sun protection may decrease the morbidity associated with skin cancer in this immunosuppressed population.

Socoliuc C, Zurac S, Andrei R, Stăniceanu F
A review of morphological aspects in dermatofibrosarcoma protuberans with clinicopathological correlations.
Rom J Intern Med. 2014 Oct-Dec; 52(4):239-50 [PubMed] Related Publications
Dermatofibrosarcoma protuberans represents a rare malignant neoplasm involving the skin affecting all ages, frequently young adults. It is characterized by high rates of local recurrences after surgery and rare distant metastasis. Clinically it may present as a non-protuberant or a protuberant lesion, having a relative non-specific aspect mimicking a scar, morphea, a benign cyst or other skin tumor. Several clinicopathologic subtypes of dermatofibrosarcoma protuberans have been described: fibrosarcomatous, pigmented, juvenile, myxoid, atrophic, sclerosing and myoid. Among these, the fibrosarcomatous variant stands out as the most aggressive subtype with higher risk of local recurrences and metastasis. All clinicopathologic variants have in common a characteristic microscopic pattern of infiltration into subcutaneous fat. However, this may be present on small areas or unavailable for examination on biopsy fragments. For this reason, the awareness of this variable morphology is essential for establishing a correct diagnosis and performing an optimal treatment.

Nasrallah MP, Nasrallah IM, Yu GH
Fine-needle aspiration of superficial myxoid neurofibroma in the region of the breast.
Diagn Cytopathol. 2015; 43(5):427-31 [PubMed] Related Publications
Myxoid neurofibromas are benign spindle cell tumors of perineural cell origin with a broad pathologic differential diagnosis, which includes myxoma, myxoid liposarcoma, myxoid dermatofibrosarcoma protuberans, and low-grade fibromyxoid sarcoma. We present an unusual case of superficial myxoid neurofibroma in the region of the breast that underwent pre-operative fine-needle aspiration (FNA). The differential diagnosis for a myxoid subcutaneous lesion should include myxoid neurofibroma when myxoid material is encountered in an otherwise hypocellular FNA.

Zheng Z, Piao J, Lee JH, et al.
Dermatofibrosarcoma protuberans: a study of clinical, pathologic, genetic, and therapeutic features in Korean patients.
Yonsei Med J. 2015; 56(2):440-6 [PubMed] Free Access to Full Article Related Publications
PURPOSE: Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation. The purpose of this study is to evaluate the clinicopathological, genetic, and therapeutic features of DFSP in Korean patients.
MATERIALS AND METHODS: Clinicopathological features of 37 patients with DFSP were reviewed. Multiplex reverse transcriptase-polymerase chain reaction (PCR) was carried out in 16 patients using formalin-fixed, paraffin-embedded tissues and specific primers for COL1A1 and PDGFB.
RESULTS: The mean age of 37 patients was 37.4 years old. The most common tumor location was the trunk. All patients were treated primarily with surgery: 34 (91.7%) cases with Mohs micrographic surgery (MMS) and 3 (8.3%) cases with wide local excision. The median follow-up time was 33.7 months. Two patients, one in each treatment group, demonstrated local recurrence during the follow-up period. The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis. No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features.
CONCLUSION: Our results support the effectiveness of MMS in treating DFSP. The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients. Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.

Kalsi H, Rahman A, Harbol T, Sidhu J
Giant Hemosiderotic Dermatofibroma: The Largest Giant Dermatofibroma Reported to Date.
Am J Dermatopathol. 2015; 37(10):778-82 [PubMed] Related Publications
Dermatofibroma (DF) is a relatively common benign fibrohistiocytic soft tissue tumor. It has a slightly greater incidence amongst females and typically presents itself during the midadult life as a slowly growing, firm dermal nodule, usually smaller than 2 cm in diameter, on the lower extremities. Giant DF is a rare clinical variant of DF characterized by unusually large size (>5 cm), which mimics malignant soft tissue tumor clinically. Twenty-six cases of giant DF have been reported so far. One of these giant DFs was a giant hemosiderotic DF. We report herein a case of a 47-year-old woman who presented with the largest DF reported in the literature to date. It was hemosiderotic.

Cotoi OS, Mureşan AV, Tilinca MC, et al.
Giant dermatofibrosarcoma protuberans - rare form of mesenchymal tissue neoplasm: case presentation.
Rom J Morphol Embryol. 2014; 55(4):1491-5 [PubMed] Related Publications
UNLABELLED: Dermatofibrosarcoma protuberans (DFSP), a rare type of mesenchymal neoplasm, is defined by the WHO as a superficial sarcoma with low-grade malignancy that develops in the cutaneous and subcutaneous tissues. The purpose of this paper is to present a case of a giant DFSP, with post-traumatic onset in childhood and a very long evolution.
CLINICAL DATA: 51-year-old Caucasian patient presents for 41 years a presternal neoplastic lesion, with onset at 10-year-old, few months after a strong trauma. The patient addressed for a clinic examination, secondary to a spontaneous hemorrhage of the lesion. The local examination reveals the presence of a red-purple polynodular neoplastic lesion of 180×110×30 mm, of firm consistency, adherent to the subcutaneous tissue, painless, with lateral extension at 8 o'clock as an erythematous infiltrated atrophic plaque appearance. One of these nodular masses presents surface ulceration and areas of necrosis. The CT scan did not detect any infiltration into the pectoral muscle or loco-regional metastasis. Under general anesthesia a wide surgical excision with free macroscopic margins of 3 cm was performed. Histopathological diagnosis was DFSP, with evidence of tumoral spindle cells disposed in storiform pattern, embedding small adipocyte panicles, creating a lace-like or honeycomb appearance. Immunohistochemically, the tumor cells express an intense and diffuse CD34 and they are negative for S-100 and SMA. The Ki-67 is focal positive in almost 2-4%. Clinical and paraclinical monitoring at 18 months follow-up does not detect any local recurrences or metastases, and an excellent quality of life.

Kallini JR, Khachemoune A
Dermatofibrosarcoma protuberans: is mohs surgery truly superior? And the success of tyrosine kinase inhibitors.
J Drugs Dermatol. 2014; 13(12):1474-7 [PubMed] Related Publications
Dermatofibrosarcoma protuberans is a rare, slow growing tumor. This growth occurs most frequently in males from ages 20 to 50. The most common area on which DFSP originates is the trunk. DFSP presents clinically as a pink nodule or as a firm, flesh-colored to brown, indurated and exophytic plaque. Pathology shows atypical spindle cells of fibroblast origin surrounding a core of collagen. The definitive treatment of DFSP is surgical excision. Imatinib is a tyrosine kinase inhibitor that has been approved for use in DFSP refractory to surgery.

Hoesly PM, Lowe GC, Lohse CM, et al.
Prognostic impact of fibrosarcomatous transformation in dermatofibrosarcoma protuberans: a cohort study.
J Am Acad Dermatol. 2015; 72(3):419-25 [PubMed] Related Publications
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade cutaneous malignancy that sometimes transforms into a high-grade fibrosarcomatous variant (DFSP-FS). Limited data compare clinical features and biological behavior of these 2 entities.
OBJECTIVE: We sought to compare clinical features and biological behavior of DFSP and DFSP-FS.
METHODS: This was a retrospective cohort study of ambulatory patients with DFSP or DFSP-FS treated between January 1955 and March 2012 in the dermatology department of a tertiary care academic medical center.
RESULTS: Of 188 patients, 171 (91%) had DFSP and 17 (9%) had DFSP-FS. Recurrence-free survival differed significantly between the groups over time (P = .002). The 1-year and 5-year recurrence-free survival was 94% and 86%, respectively, for DFSP, vs 86% and 42%, respectively, for DFSP-FS. Metastatic disease occurred in no patients with DFSP and in 18% (3 of 17) with DFSP-FS (P < .001). There were no statistically significant differences in age at diagnosis, sex, race, symptomatology, maximum tumor size, muscle/bone invasion, or duration of tumor before diagnosis.
LIMITATIONS: The retrospective nature of study was a limitation.
CONCLUSIONS: DFSP-FS exhibits more aggressive behavior than DFSP, with lower recurrence-free survival and greater metastatic potential. Their similar clinical presentation mandates histopathological differentiation for prognosis.

Valdivielso-Ramos M, Torrelo A, Campos M, et al.
Pediatric dermatofibrosarcoma protuberans in Madrid, Spain: multi-institutional outcomes.
Pediatr Dermatol. 2014 Nov-Dec; 31(6):676-82 [PubMed] Related Publications
Little is known about the incidence and management of dermatofibrosarcoma protuberans (DFSP) in children. We conducted a retrospective review of all patients younger than 18 years of age treated for DFSP over a period of 11 years (2000-2011) in Madrid, Spain. The sample consisted of 13 children. The average annual incidence of DFSP in the pediatric population corresponded to 1.02 cases per million person-years (95% confidence interval 0.55, 1.73). Sites of involvement were diverse, with 15.3% of tumors found in acral locations. The median tumor size was 3.5 cm × 3 cm and the median time from apparent onset to diagnosis was 36 months. Histopathologic examination revealed conventional (77.0%), pigmented (15.4%), and myxoid (7.6%) variants. The mitotic index was consistently <5 per 10 high-power fields. All lesions were removed using surgical excision. One patient developed a local recurrence because of initial affected margins; none developed metastases. The median duration of clinical follow-up was 70.5 months. This study estimated the average annual incidence rate of DFSP in a population of patients younger than 18 years and reviewed the experience of several hospitals in the management of this tumor.

Gracia-Cazaña T, Pastushenko I, Concellón MA, Grasa MP
Deep dermatofibrosarcoma protuberans in a ninety-year old-woman.
Dermatol Online J. 2014; 20(11) [PubMed] Related Publications
A 92-year-old woman was referred for the assesment of an asymptomatic subcutaneous tumor that developed after an accidental fall. The mass clinically and radiologically simulated a subcutaneous hematoma. Finally, the histological study was consistent with subcutaneous dermatofibrosarcoma protuberans.

Monteagudo C, Llombart B, Burgués O, et al.
Biphasic dermatofibrosarcoma protuberans with a labyrinthine plexiform high-grade fibrosarcomatous transformation.
J Cutan Pathol. 2015; 42(3):206-12 [PubMed] Related Publications
Several variants of dermatofibrosarcoma protuberans, a low-grade superficial sarcoma, are well recognized. The most prognostically important is the fibrosarcomatous variant. We report a case of biphasic dermatofibrosarcoma protuberans in which the high-grade component exhibited a previously undescribed plexiform pattern. A clinicopathological study complemented with immunohistochemical, ultrastructural, reverse transcription polymerase chain reaction and fluorescence in situ hybridization analyses of this unique case. Histopathologically, a conventional low-grade dermatofibrosarcoma protuberans was admixed with intratumoral high-grade areas showing a striking labyrinthine plexiform pattern characterized by a higher cellularity of larger and slightly atypical tumor cells. CD34 expression was present in both components, while Ki-67 immunostaining was significantly higher in the plexiform high-grade areas. Focal epithelial membrane antigen and claudin-1 immunostaining was present at the interphase between high- and low-grade areas. COL1A1-PDGFB fusion transcripts, with breakpoints at exon 25 of COL1A1 and exon 2 of PDGFB, were present in both components, being more numerous, as the extra copies of both genes, in the high-grade areas. A previously undescribed histopathologic pattern of high-grade sarcomatous transformation of dermatofibrosarcoma protuberans is reported: a biphasic tumor with a labyrinthine plexiform high-grade component.

Wu S, Huang Y, Li H, et al.
Quantitative analysis on collagen of dermatofibrosarcoma protuberans skin by second harmonic generation microscopy.
Scanning. 2015 Jan-Feb; 37(1):1-5 [PubMed] Related Publications
Dermatofibrosarcoma protuberans (DFSP) is a skin cancer usually mistaken as other benign tumors. Abnormal DFSP resection results in tumor recurrence. Quantitative characterization of collagen alteration on the skin tumor is essential for developing a diagnostic technique. In this study, second harmonic generation (SHG) microscopy was performed to obtain images of the human DFSP skin and normal skin. Subsequently, structure and texture analysis methods were applied to determine the differences in skin texture characteristics between the two skin types, and the link between collagen alteration and tumor was established. Results suggest that combining SHG microscopy and texture analysis methods is a feasible and effective method to describe the characteristics of skin tumor like DFSP.

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