Supernumerary ring chromosomes in dermatofibrosarcoma protuberans may contain sequences from 8q11.2 similar to qter and 17q21 similar to qter: a combined cytogenetic and comparative genomic hybridization study

Dermatofibrosarcoma protuberans (DFSP) presents with characteristic cytogen etic features such as reciprocal t(17;22)(q22;q13) or, more commonly, super numerary ring chromosomes containing sequences from chromosomes 17 and 22. Here, we report the identification of a novel abnormality in a 43-year-old woman with DFSP. Cytogenetic analysis of tumor cells showed the presence of a supernumerary ring chromosome as the sole anomaly. Amplification of 8q11 .2 similar to qter and 17q21 similar to qter sequences was confirmed by com parative genomic hybridization (CGH); the present case apparently lacked am plification of chromosome 22. To our knowledge. this is the first case indi cating that the ring chromosome in DFSP is possibly associated with amplifi ed material from chromosomes 8 and 17. (C) 2001 Elsevier Science Inc. All r ights reserved.