title: Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation.
abstract: 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.
authors.affiliation: Division of Pathology and Laboratory Medicine, Our Lady's Hospital for Sick Children, Dublin, Ireland.
authors.forename: Amanda
authors.initials: A
authors.lastname: Murphy
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Stallings
authors.forename: Julie
authors.initials: J
authors.lastname: Howard
authors.forename: Maureen
authors.initials: M
authors.lastname: O'Sullivan
authors.forename: Roisin
authors.initials: R
authors.lastname: Hayes
authors.forename: Finn
authors.initials: F
authors.lastname: Breatnach
authors.forename: Michael B
authors.initials: MB
authors.lastname: McDermott
mesh_terms: D001859:Bone Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D018288:Carcinoma, Small Cell / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D017809:Fatal Outcome; D006801:Humans; D007621:Karyotyping; D008297:Male; D012334:RNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D011859:Radiography; D014178:Translocation, Genetic
chemical_list: D012334:RNA, Neoplasm