Preoperative Risk Factors for Fibrosarcomatous Transformation in Dermatofibrosarcoma Protuberans.

BACKGROUND/AIM: Dermat of ibrosarcoma protuberans (DFSP) is a soft-tissue sarcoma with a high risk of local recurrence, though typically never metastasizes. DFSP can transform into high-grade fibrosarcoma (DFSP-FS), which has a risk of metastasis. Currently, treatment for DFSP includes Moh's micrographic surgery (MMS); however, this is not recommended for DFSP-FS. Often, the transformation to DFSP-FS is not recognized until the final histological diagnosis. At that point, wide local excision (WLE) of a previous MMS site can be morbid. As such, we analyzed patient risk factors to allow identification of DFSP-FS transformation at presentation. PATIENTS AND METHODS: We reviewed 368 (174 female, 194 male) patients with a mean age of 42 years from two sarcoma centers. A total of 319 (87%) patients had a history of DFSP and 49 (13%) had DFSP-FS. RESULTS: When comparing patients with a DFSP to those with a DFSP-FS, patients with a DFSP-FS were more likely (p<0.05) to be older, female and with larger tumors. A painful mass and rapidly enlarging mass were associated with DFSP-FS. CONCLUSION: Patients who presented with DFSP-FS were found to typically have a larger, painful, and growing mass. Patients with these features should be referred for WLE over MMS at presentation.

Current Update on the Molecular Biology of Cutaneous Sarcoma: Dermatofibrosarcoma Protuberans.

OPINION STATEMENT: Cutaneous sarcoma is a group of malignant mesenchymal tumors primarily involving the dermis, and it is characterized by extreme clinicopathological heterogeneity. Although its occurrence rate is rare, dermatofibrosarcoma protuberans (DFSP) is one of the most common types of dermal sarcoma. DFSP grows slowly and tends to relapse locally after inadequate resection. There are various histological variants of DFSP tumors and it often mimics benign lesions such as dermatofibroma and scar, which make accurate diagnosis difficult and delayed, and some cases progress to the stage where the tumor is unresectable. Recent advancements in cancer genetics and molecular biology methods have elucidated the COL1A1-PDGFB fusion gene, some novel fusion gene variants and pathways related to DFSP pathogenesis that have resulted in the evolution of cutaneous sarcoma diagnosis and treatment. For example, some clinical studies have confirmed the efficacy of imatinib methylate, an αPDGFR-targeted therapy for unresectable or metastatic DFSP. The present review summarizes recent updates in DFSP research, diagnostics, and treatment.

Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome.

Ataxia telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder caused by a mutation in the ATM gene. An impaired immune response due to the gene mutation leads to an increased risk of infection and malignancy. We present a rare case of dermatofibrosarcoma protuberans arising in a patient with AT.

Dermatofibrosarcoma Protuberans.

OPINION STATEMENT: Dermatofibrosarcoma protuberans (DFSP) is a slow growing tumor with a very low metastatic potential but with significant subclinical extension and great capacity for local destruction. Thus, the first surgeon approached with such challenging tumor must attempt to cure the patient with a method that spares healthy tissue and ensures an optimal oncological, functional, and esthetic result. The treatment of DFSP often requires a multidisciplinary approach. Depending on location, dermatologic surgeons, surgical oncologists, head and neck surgeons, neurosurgeons, plastic surgeons, and occasionally medical oncologists may be involved with the management. Mohs micrographic surgery (MMS) is the preferred method when available. In our institution, most of the DFSP cases are often advanced cases; thus, dermatologic surgeons obtain clear margins peripherally and other surgical specialties assist with resection of the fascia and any critical deeper structures. When MMS is not available, wide local excision (at least 2- to 3-cm margins of resection) with exhaustive pathologic assessment of margin status is recommended, and it is best to confirm tumor extirpation prior to any reconstruction. Subclinical extension of the tumor could be related to the size; how long it has been growing or histological markers that are unknown right now. No clinical trials comparing MMS vs WLE are available, and further research should be focused on these subjects as well as the use of imatinib and other targeted therapies for recurrent and metastatic tumors and for neoadjuvant treatment.

Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12-year-old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma -a rare tumor of childhood- in a patient with Kabuki syndrome.

Postradiation dermatofibrosarcoma protuberans : case report and literature review.

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.

Postradiation Dermatofibrosarcoma Protuberans: Case Report and Literature Review.

Radiotherapy has long been known to induce soft tissue sarcomas. However, there are only six cases of post-radiation 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.

The involvement of fibroblast growth factor receptor signaling pathways in dermatofibroma and dermatofibrosarcoma protuberans.

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.

Dermatofibrosarcoma protuberans arising at a Rho(D) immune globulin injection site.

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.

Uncommon cutaneous neoplasms of the head and neck.

This article concentrates on the less-common cutaneous malignancies such as merkel cell, atypical fibroxanthoma, malignant fibrous histiocytoma, dermatofibrosarcoma protuberans, microcystic adnexal carcinoma, and sebaceous carcinoma. The clinical and histopathologic descriptions of each, most current and emerging etiologies, diagnosis, staging, treatment, and prognosis are discussed.

Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome.

Dermatofibrosarcoma protuberans (DFSP) is an uncommon malignant spindle-cell tumor usually presenting in adulthood. The epidemiology of DFSP has recently been reviewed, and there have been 152 reported cases of DFSP in patients below the age of sixteen. We present the case of a DFSP arising in a young patient with Shwachman-Diamond syndrome (SDS).

Nonmelanoma skin cancer of the head and neck I: histopathology and clinical behavior.

Non-Melanoma skin cancer (NMSC) is the most commonly encountered malignancy in almost every area of practice, but the cases that present to an Otolaryngology practice will be advanced in nature. The major subtypes of NMSC include basal cell carcinoma, squamous cell carcinoma, dermatofibrosarcoma protuberans, merkel cell carcinoma, and adnexal malignancies. In this review, we present the epidemiology, histology, clinical presentation and management of these major subtypes. Further, we present background on multimodality treatment for NMSC lesions that have become metastatic from their primary site and an introduction to the behavior and treatment of NMSC lesions in patients who have received organ transplants. Understanding the clinical behavior of advanced NMSC is essential knowledge for a general Otolaryngologist.

Dermatofibroma on the palmar surface of the hand.

Case 1: A 58-year-old man presented with a solitary asymptomatic nodule on his thumb (Figure A). After trauma with a rusty nail approximately 20 years ago, he had developed a small papule, which had enlarged gradually for a few days initially before stabilizing. His personal and family medical histories were unremarkable. Dermatologic examination revealed a 1-cm crater-like nodule on the left palmar area. This was a firm and nontender lesion that was fixed to the overlying skin but moved freely from underlying structures. There were no similar lesions elsewhere on his body. Case 2: A 52-year-old man presented with a nodular lesion on the left palmar surface of his thumb. The 0.8-cm lesion was lightly colored, with a central cup-shaped epidermal depression and thin epidermis. The patient described an insect bite to the area 15 years earlier as the precipitating event. The firm and nontender lesion was fixed to the overlying skin but moved freely from underlying structures (Figure B). Case 3: A 36-year-old man consulted for a nodular lesion, located on his left palmar surface, that had not enlarged or changed since appearing 3 years ago. He described mechanical trauma to the area as precipitating the lesion. Clinical examination revealed a 0.6-cm, well-circumscribed nodule, with a dome shape and colored skin. Clinically, the nodular lesion appeared to be a benign tumor (Figure C). In each case, the nodule was excised totally and histopathologic examination revealed a well-circumscribed, nonencapsulated nodule within the mid-dermis. Thick, acellular collagen bundles were arranged randomly in short fascicles through the center of the lesion. Cellular areas consisting of histiocytes and fibroblasts with a storiform pattern at the periphery of lesion were observed, but nuclear atypia and mitotic activity were not. Results of immunohistochemical stain with CD34 were negative, but in all cases were strongly positive for Factor XIIIa. Slight epidermal hyperplasia was present with orthokeratotic hyperkeratosis and flattened rete ridges in the overlying epidermis (Figure A-1, Figure B-1, Figure C-1). The subcutaneous fat and adjacent skin were normal. No folliculosebaceous units at the periphery of the lesion were seen, but a few eccrine sweet glands were noted. No recurrence appeared in 18 months of follow-up.