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Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation.

Murphy A, Stallings RL, Howard J, O'Sullivan M, Hayes R, Breatnach F, McDermott MB

Division of Pathology and Laboratory Medicine, Our Lady's Hospital for Sick Children, Dublin, Ireland.

We report a case of desmoplastic small round cell tumor occurring in the right ilium of a 13-year-old boy. Morphologically, the neoplasm consisted of small round cells of primitive appearance with a diffuse growth pattern replacing marrow space and eroding bone. Immunohistochemical staining was positive for vimentin, synapsin, CD99 (MIC2 protein), and FLI-1, prompting an initial diagnosis of Ewing sarcoma/primitive neuroectodermal tumor. However, a diagnosis of desmoplastic small round cell tumor was rendered after the detection by cytogenetic analysis of the reciprocal chromosomal translocation, t(11;22)(p13;q12), which is uniquely associated with this tumor. This is the first documented instance of desmoplastic small round cell tumor arising in bone.

Published 11 January 2005 in Cancer Genet Cytogenet, 156(2): 167-71.
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