What is the pathophysiology of dermatofibrosarcoma protuberans (DFSP)?

Updated: Mar 06, 2020
  • Author: Raman K Madan, MD; Chief Editor: William D James, MD  more...
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Answer

Dermatofibrosarcoma protuberans (DFSP) is a cutaneous malignancy that arises from the dermis and invades deeper tissue (eg, fat, fascia, muscle, bone).

The cellular origin of DFSP is not clear. Evidence supports the cellular origin being fibroblastic, histiocytic, or neuroectodermal. DFSP manifests partial features of each. Therefore, many authorities suggest pluripotential progenitor cells, such as undifferentiated mesenchymal cells, may be the origin of DFSP, because they have the capacity to differentiate into all 3 cell types. [2]

Cultured DFSP tumor cells have increased growth in response to platelet-derived growth factor (PDGF)–beta. Cytogenetic studies reveal specific abnormalities in DFSP tumor cells, such as reciprocal translocations of chromosomes 17 and 22, t(17;22), and supernumerary ring chromosomes composed of interspersed sequences from bands 17(17q22) and 22(22q12). These rearrangements fuse the collagen type I alpha 1 (COL1A1) and the PDGF-beta chain (PDGFB, c-sis proto-oncogene) genes. The collagen promoter drives COL1A1 and PDGFB fusion protein production. The fusion protein is then processed into functional PDGF-B and subsequently interacts with the PDGF receptor on the cell surface of DFSP tumor cells. The activation of the PDGF receptor tyrosine kinase triggers the proliferation of DFSP tumor cells. [2, 3, 4, 5, 6, 7, 8]


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