Dermatofibrosarcoma Protuberans in Children: an Update on the Diagnosis and Treatment

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of low grade malignant potential. Although rare, pediatric cases pose a particular challenge in diagnosis and management. In children, the clinical appearance may be heterogeneous and a high index of suspicion is necessary to avoid delays in diagnosis which can lead to further morbidity. Histologic examination, often with the use of appropriate immunostains, is necessary for diagnosis. Advances in the understanding of the molecular genetics of DFSP have led to further diagnostic and therapeutic modalities. DFSP is thought to result from a translocation between platelet-derived growth factor beta (PDGFB, 22q13.1) and type 1 collagen (COL1A1, 17q2122) leading to a fusion protein (PDGFB) which stimulates the PDGF receptor. Detection of this translocation in tissue via PCR or fluorescence in situ hybridization (FISH) can be helpful in difficult cases. While surgery with wide local excision or Mohs micrographic surgery is the mainstay of treatment, the use of targeted therapy with imatanib mesylate shows promise in large or unresectable tumors. Knowledge of the clinical features, histology, genetics, and treatment options is important for successful management of these tumors.

Agminated Fibroblastic Conective Tissue Nevus: A New Clinical Presentation

“…DFSP is a fibrohistiocytic tumor of low‐grade malignant potential . Although our patient had fibroblastic CD34 + cells, the lack of infiltration of eccrine glands, vessels, and dermal nerves and negativity for the translocation between genes COL1A1 and PDFGB using the FISH technique (which has a sensitivity of 90% for DFSP) made DFSP unlikely . The relevance of making this distinction relies mainly in determining the behavior and choice of treatment for these lesions.…”

Pediatric Dermatofibrosarcoma Protuberans in Madrid, Spain: Multi‐institutional Outcomes

“…2). Such lesions may be difficult to distinguish clinically from other, more commonly occurring lesion types, such as morphea or vascular lesions, which often causes major delays in diagnosis (8,16,32). Tumor size at the time of diagnosis normally ranges from 1 to 5 cm, and DFSP tends to grow slowly over several years, eventually becoming quite large if left untreated (14,33,34).…”

“…If this technique is not available, wide surgical excision (2-4 cm) must be performed to ensure tumorfree margins. What constitutes adequate margins to achieve local tumor control in children remains unclear, since the level of evidence is low, and there is particular concern about the high likelihood of functional disability, gross mutilation, or unacceptable cosmetic outcomes (8,33). In our series, all lesions were removed using surgical excision with 2-to 3-cm margins, depending on the location of the lesion, and MMS was used in only one patient since this technique is not available in all hospitals.…”

“…DFSP is uncommon, accounting for approximately 0.1% of all malignancies in adults (2,3) and 1% of all soft tissue sarcomas (4,5). Its overall annual incidence has been reported to range from 0.8 to 4.5 per 1,000,000 population per year (6,7), an incidence in the pediatric population estimated at 1 per 1,000,000 (8). The proportion of published pediatric cases ranges from 4.5% to 20% (3,(9)(10)(11)(12).…”

“…Although there is unanimous agreement that DFSP is uncommon in children, it has been the subject of little epidemiologic research in this age group (13)(14)(15)(16)(17)(18)(19). Fewer than 200 cases have been reported in the literature (8,20,21).…”