Abstract
Recent studies have characterized dermatofibrosarcoma protuberans (DFSP) with ring chromosomes consisting of interspersed sequences from chromosome 17 and 22. We present a case of a classical DFSP with complex clonal chromosomal aberrations and normal chromosome 17 and 22 with no ring chromosome. A 29 year old male presented with back lesion. Histologic features included a monotonous population of spindle cells in storiform pattern. The mitotic activity was relatively high but the cells lacked nuclear atypia and necrosis. Immunohistochemical staining was strongly positively for CD34 in a membranous pattern of all tumor cells. Outside expert consultation confirmed the diagnosis of DFSP.
Cytogenetic evaluation from G banding and FISH revealed a clonal complex male karyotype with a consistent finding of an additional chromosome material of unknown origin on chromosome 19 at band 13 and no ring chromosome. Interestingly this der 19 chromosome finding has been reported as a feature in 25% of malignant fibrous histiocytomas with tumor progression which has some similarity with DFSP. This case either represent a limitations of classical histopathology or similar mechanism of origin of these two tumor types. It may also represent tumor progression and dedifferentiation with loss of ring chromosome.
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Hostetter, G., Freeman, J. & Naeem, R. A Dermatofibrosarcoma Protuberans (DFSP) with complex clonal chromosomal findings and absence of ring chromosomes. Genet Med 1, 68 (1999). https://doi.org/10.1097/00125817-199901000-00107
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DOI: https://doi.org/10.1097/00125817-199901000-00107