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 posi...

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Bibliographic Details
Published in:Cancer genetics and cytogenetics 2005-01, Vol.156 (2), p.167-171
Main Authors: Murphy, Amanda, Stallings, Raymond L., Howard, Julie, O'Sullivan, Maureen, Hayes, Roisin, Breatnach, Finn, McDermott, Michael B.
Format: Article
Language:English
Subjects:
Bone Neoplasms - diagnostic imaging
Bone Neoplasms - genetics
Bone Neoplasms - pathology
Carcinoma, Small Cell - diagnostic imaging
Carcinoma, Small Cell - genetics
Carcinoma, Small Cell - pathology
Child, Preschool
Chromosome Mapping
Fatal Outcome
Humans
Karyotyping
Male
Radiography
RNA, Neoplasm - genetics
RNA, Neoplasm - isolation & purification
Translocation, Genetic
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Summary: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.
ISSN:0165-4608
1873-4456
DOI:10.1016/j.cancergencyto.2004.05.003