INVOLVEMENT OF CHROMOSOME-17 AND CHROMOSOME-22 IN DERMATOFIBROSARCOMAPROTUBERANS

Literature on the cytogenetics of dermatofibrosarcoma protuberans (DFS P) is limited; only 10 cases with chromosome aberrations have been rep orted. They are karyotypically characterized by the presence of supern umerary ring(s), either as the sole cytogenetic abnormality or togethe r with a few additional structural or numerical changes. We report the cytogenetic and fluorescence in situ hybridization (FISH) analysis of three new DFSP, one primary and two recurrent tumors. In two cases we found a supernumerary ring as the sole change, whereas the third had two copies of a marker chromosome and monosomy of chromosome 22. Seque nces of chromosomes 17 and 22 were identified by FISH in the supernume rary rings and in the markers. The fluorescence pattern suggested that additional sequences were present in the two rings, but showed that t he marker chromosomes were entirely painted by chromosome 17 and 22 pr obes. The findings indicate that juxtaposition and/or amplification of chromosome 17 and 22 sequences could be crucial in the pathogenesis o f DFSP. (C) 1995 Wiley-Liss, Inc.