Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3)

Pediatr Blood Cancer. 2010 Jul 1;54(7):1041-4. doi: 10.1002/pbc.22437.


We describe a male with a large abdominal mass, most likely originating from the liver, with capsule rupture and tumor dissemination into the abdominal cavity. Adherence of the tumor to the diaphragm and lower right colon also were noted. A comprehensive evaluation of the mass revealed no tumor-defining histopathologic, immunocytochemical, ultrastructural, cytogenetic, or translocation features. The malignant tumor was found to have a novel translocation (X;19)(q13;13.3), which has not been reported in small round cell tumors of childhood or adults. The final diagnosis rendered was an undifferentiated small round cell tumor of uncertain cell of origin.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Neoplasms / genetics*
  • Abdominal Neoplasms / metabolism
  • Abdominal Neoplasms / pathology*
  • Carcinoma, Small Cell / genetics*
  • Carcinoma, Small Cell / metabolism
  • Carcinoma, Small Cell / pathology*
  • Child
  • Chromosomes, Human, Pair 19 / genetics*
  • Chromosomes, Human, X / genetics*
  • Humans
  • Immunohistochemistry
  • Male
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic