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Dermatofibrosarcoma protuberans: Epidemiology, pathogenesis, clinical presentation, diagnosis, and staging

Authors
William M Mendenhall, MD
Mark T Scarborough, MD
Franklin P Flowers, MD
Section Editors
Robert Maki, MD, PhD
June K Robinson, MD
Deputy Editor
Diane MF Savarese, MD

INTRODUCTION

Dermatofibrosarcoma protuberans (DFSP) is an uncommon locally aggressive cutaneous soft tissue sarcoma. Approximately 85 to 90 percent of DFSPs are low grade, while the remainder contain a high-grade sarcomatous component (which is usually a fibrosarcoma, designated DFSP-FS) and are considered to be intermediate-grade sarcomas [1]. Although they rarely metastasize (fewer than 5 percent of cases), all DFSP variants have a propensity to recur locally. Recurrence potential is directly related to the extent of resection. (See "Dermatofibrosarcoma protuberans: Treatment", section on 'Importance of resection margins'.)

This topic review will focus on the epidemiology, molecular pathogenesis, histology, clinical presentation, diagnosis, and staging of DFSP. Treatment of DFSP and issues specific to DFSP arising in the head and neck region are discussed in detail elsewhere. (See "Dermatofibrosarcoma protuberans: Treatment" and "Head and neck sarcomas", section on 'Desmoids and dermatofibrosarcoma protuberans'.)

EPIDEMIOLOGY

Dermatofibrosarcoma protuberans (DFSP) is a relatively rare tumor. Estimates of the overall incidence of DFSP in the United States are 0.8 to 4.5 cases per million persons per year [2-4]. In the United States, DFSP accounts for between 1 and 6 percent of all soft tissue sarcomas [5,6] and 18 percent of all cutaneous soft tissue sarcomas [3]. In a series of 12,114 cutaneous soft tissue sarcomas derived from the Surveillance, Epidemiology and End Results (SEER) tumor registry from 1992 through 2004, DFSP was second only to Kaposi sarcoma, which accounted for 71 percent of cases [3].

The Bednar or pigmented variant (distinguished by the dispersal of melanin-containing cells in an otherwise typical DFSP) is even less common. It represents fewer than 5 percent of all DFSP cases and is more common in black persons [4,7-10]. The fibrosarcomatous variant of DFSP (DFSP-FS) accounts for approximately 5 to 15 percent of DFSPs [11,12].

DFSP most often arises in adults in their thirties [1,4,13-15], but it has been described in all age groups including children and in the elderly; rarely it presents congenitally [1,4,8,14,16-18]. In one large series, children accounted for 6 percent of all cases of DFSP [19]. The so-called giant cell fibroblastoma is considered to be the juvenile form of DFSP, given its similar morphology, identical chromosomal translocation, and CD34 positivity [20-22]. (See 'Molecular diagnostics' below and 'Immunohistochemistry' below.)

             

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Literature review current through: Nov 2016. | This topic last updated: Fri Jan 29 00:00:00 GMT 2016.
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