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Dermatofibrosarcoma Protuberans

Pathophysiology
DFSP is a cutaneous malignancy that arises from the dermis and invades deeper subcutaneous tissue. Its etiology and histogenesis are unclear. The cellular origin of DFSP has been described as fibroblastic, histiocytic, or neuroectodermal.1-3

Genetic analysis of DFSP lesions has revealed that the disorder arises from the rearrangement of chromosomes 17 and 22, resulting in deregulation of the platelet-derived growth factor (PDGF) B-chain gene. This results in continuous activation of PDGFRB protein kinase, which promotes the growth of the tumor.4-10


References:
  1. Lopes JM, Paiva ME. Dermatofibrosarcoma protuberans. A histological and ultrastructural study of 11 cases with emphasis on the study of recurrences and histogenesis. Pathol Res Pract. 1991;187:806-813.
  2. Allan AE, Tsou HC, Harrington A, et al. Clonal origin of dermatofibrosarcoma protuberans. J Invest Dermatol. 1993;100:99-102.
  3. Gloster HM, Jr. Dermatofibrosarcoma protuberans. J Am Acad Dermatol. 1996;35:355-374; quiz 375-376.
  4. Mendenhall WM, Zlotecki RA, Scarborough MT. Dermatofibrosarcoma protuberans. Cancer. 2004;101:2503-2508.
  5. Shimizu A, O'Brien KP, Sjoblom T, et al. The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. Cancer Res. 1999;59:3719-3723.
  6. Greco A, Roccato E, Miranda C, et al. Growth-inhibitory effect of STI571 on cells transformed by the COL1A1/PDGFB rearrangement. Int J Cancer. 2001;92:354-360.
  7. Maki, R. Sarcoma. Oncologist. 2001;6:333-337.
  8. Tuveson DA, Willis NA, Jacks T, et al. STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications. Oncogene. 2001;20:5054-5058.
  9. Gokden N, Dehner LP, Zhu X, Pfeifer JD. Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR. J Cutan Pathol. 2003;30:190-195.
  10. Linn SC, West RB, Pollack JR, et al. Gene expression patterns and gene copy number changes in dermatofibrosarcoma protuberans. Am J Pathol. 2003;163:2383-2395.
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