RT-PCR and FISH can assist diagnosis in hard-to-identify tumors of congenital/pediatric DFSP.
Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic proliferation that tends to recur locally, with little metastatic potential. DFSP has an overall annual incidence of 4.2 per million. Tumors occur in both neonates and adults. The wide age range is paralleled by a widely divergent tumor morphology. Possible forms are sarcoma-like, similar to fibrosarcoma (DFSP-FS); pleomorphic high-grade sarcoma/malignant fibrohistiocytoma (DFSP-PleoSarc); myxoid changes; and pigmented cells (Bednar tumor). New findings link the disease to a reciprocal translocation t(17;22)(q22;q13) and a supernumerary ring chromosome r(17;22) derived from the translocation. Two groups of researchers explored the genetic abnormalities in DFSP and the use of suppl…