Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation.
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.
Murphy
Amanda
A
Division of Pathology and Laboratory Medicine, Our Lady's Hospital for Sick Children, Dublin, Ireland.
Stallings
Raymond L
RL
Howard
Julie
J
O'Sullivan
Maureen
M
Hayes
Roisin
R
Breatnach
Finn
F
McDermott
Michael B
MB
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
D012334:RNA, Neoplasm