Current treatment options in dermatofibrosarcoma protuberans

Abstract

Dermatofibrosarcoma protuberans (DFSP) is a rare malignant dermal neoplasm characterized by slow infiltrative growth, little metastatic potential but a high tendency to recur locally after surgical excision. DFSP is associated with a high cure rate. The optimal therapy is complete surgical resection. The recurrence potential of DFSP is directly related to the extent of resection. The need for wide excision margins has been amply documented. Wide local excision is a frequently used practice. Mohs micrographic surgery with continuous histological margin control is further propagated to reduce local recurrence rates. In more than 90% of DFSP, a specific chromosomal aberration is described, involving Chromosomes 17 and 22. It leads to a constitutive activation of the platelet-derived growth factor receptor (PDGFR) followed by continuous stimulation of the tumor cell growth. The use of targeted inhibitors of PDGFR is a good therapeutic option in the treatment strategy of unresectable locally advanced, recurrent or metastatic disease. With Imatinib, a selective PDGFR tyrosin kinase inhibitor, partial and complete remissions of DFSP could be achieved. This article reviews the current opinion and literature about DFSP and resulting therapy strategies.

Clinicopathological features of dermatofibrosarcoma protuberans

“…However, the response from patients remains poor and locoregional recurrence has been observed during follow-up (10)(11)(12). The natural history of DFSP is low-grade malignancy, with a 26-60% local recurrence rate attributed to incomplete excision due to poor circumscription and irregular boundaries (13). The lesion typically infiltrates well beyond its grossly visible margin into the surround tissue.…”

“…The lesion typically infiltrates well beyond its grossly visible margin into the surround tissue. Certain studies have advocated the use of Mohs micrographic surgery with incremental excision until normal tissue is obtained, as documented by repeat frozen sections (13). Several studies have demonstrated a significant correlation between a wide excision and a low recurrence rate (9,13).…”

Dermatofibrosarcoma protuberans: Our experience of 59 cases

“…DFSP is classified as a rare tumor, however, it may be considered as the most common stromal tumor of cutaneous origin (7). Numerous epidemiological studies in the USA have reported a mean annual incidence rate between 0.8 and 4.5 cases per million individuals (8)(9)(10).…”

“…However, Criscione and Weinstock (12) studied 9 population-based cancer registries with a total of 2,885 DFSP cases and reported a higher incidence in females. It has also been found that DFSP has a higher incidence rate among individuals aged between 20 and 50 years (13); however, several studies have reported more than 160 pediatric cases of acquired DFSP and more than 35 congenital cases (7,(14)(15)(16)(17)(18)(19). In addition, it has been demonstrated that giant cell fibroblastoma is the juvenile form of dermatofibroblastoma arising in childhood (20).…”

The role of cytogenetics and molecular diagnostics in the diagnosis of soft-tissue tumors

“…For example, dermatofibrosarcoma protuberans is characterized by a 17;22 translocation involving the COL1A1 and PDGFB genes, which results in the overproduction of fusion COL1A1-PDGF-BB ligand and consequent hyperactivation of PDGFRB, rendering these tumors responsive to targeted therapy with tyrosine kinase inhibitors such as imatinib mesylate. 47,48 The aim of the following is to highlight indications for molecular testing in the management of soft-tissue tumors and the advantages of capitalizing on these methods when facing tumors of a confusing nature or challenging differential diagnosis. Certain case illustrations are included to serve as useful paradigms.…”