Acral myxoinflammatory fibroblastic sarcoma with unique clonal chromosomal changes

Abstract.

Acral myxoinflammatory fibroblastic sarcoma is a rare tumor of the distal extremities. We present the hitherto unreported karyotypic abnormalities of this new entity. The tumor presented as a mass in the dorsum of the foot in a 53-year-old woman and showed the typical virocyte-like and lipoblast-like cells in a myxoid and inflammatory background. Cytogenetic analysis revealed a complex karyotype with a reciprocal translocation t(1;10) (p22;q24) in addition to the loss of chromosomes 3 and 13. Fluorescence in situ hybridization with the 769E11YAC and BAC 31L5 and 2H23 probes showed the breakpoint to be located proximally to BCL10 and distally to GOT1 genes on chromosomes 1p22 and 10q24, respectively. The presence of these clonal chromosomal changes supports the neoplastic nature of acral myxoinflammatory fibroblastic sarcoma and underscores that it represents a separate entity.