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Irish Child Health Database - Peer Reviewed Papers

Database Search

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

  Published in:

  Cancer Genet Cytogenet, Vol: 156, Page: 167-71

  Publication Date:

  January 2005

  Aims & Objectives:

  This case report discusses a case of desmoplastic small round cell tumor occurring in the right ilium of a 13-year-old boy

  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:

  A. Murphy; R. L. Stallings; J. Howard; M. O'Sullivan; R. Hayes; F. Breatnach; M. B. McDermott

  Study Type:

  Study Papers » Case Report Study » Descriptive Studies - Without a comparision

  Categories:

  desmoplastic small round cell tumor

  International Classification:

  ICD-O:Connective/soft tissue tumors and sarcomas (ICD-O 8800-9059)

  Keywords:

  • Bone Neoplasms/ genetics/pathology/radiography
  • Carcinoma, Small Cell/ genetics/pathology/radiography
  • Child, Preschool
  • Chromosome Mapping
  • Fatal Outcome
  • Humans
  • Karyotyping
  • Male
  • RNA, Neoplasm/genetics/isolation & purification
  • Translocation, Genetic

  
  

  Geography:

  Republic of Ireland (Dublin)