Department of Internal Medicine, St Louis University School of Medicine, St Louis, MO

摘要

A 23-year-old female patient with a long history of relapsing dermatofibrosarcoma protuberans (DFSP) despite iterative surgery presented in.April 2006 with rapidly relapsing tumor unre-sectable because of massive involvement of the hemifacial and periorbital region. The lesion presented as rapidly evolving, painful tumors more than 10 centimeters large, deeply infiltrating the fat and muscle (Fig 1). Histology confirmed the diagnosis of grade 3 fibrosarcoma arising on DFSP. Translocation t(17;22) was confirmed using caryotype showing a supernumerary ring chromosome (Fig 2, A), and fluorescent in situ hybridization (FISH) analysis on interphase cell nuclei showing the merged green-red signals corresponding to collagen 1A1 promoter (COLMi)-platelet-derived growth factor-B (PDGF /3) fusion gene (Fig 2, B), as previously de-, scribed in Maire et al1 with no other cytogenetic abnormality. Loco-regional extension was demonstrated by magnetic resonance imaging and positron emission tomography scan before initiation of treatment that showed highly intensive fixation of [18F]fluorodeoxyglucose (18FDG) on tumor sites (Fig 3)#