Clonal trisomy 4 cells detected in the ossifying renal tumor of infancy: study of 3 cases

Mod Pathol. 2013 Feb;26(2):275-81. doi: 10.1038/modpathol.2012.120. Epub 2012 Sep 14.

Abstract

The ossifying renal tumor of infancy is a rare neoplasm diagnosed in the first 2 years of life, predominantly in boys. The neoplasm is primarily characterized by the presence of a large ossifying component. Its most common mode of presentation is hematuria, and it has a uniformly benign behavior. The karyotypic makeup of the process has not been reported. Thus, a study was undertaken and it allowed demonstration of clonal trisomy 4, which was confirmed by the fluorescent in-situ hybridization-probing of two additional archival formalin-fixed, paraffin-imbedded similar tumors. On the basis of the findings in these three cases, it seems that clonal trisomy 4 may be considered as a characteristic of the tumor, which makes it distinct from any other infantile renal tumor.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 4*
  • Humans
  • Infant
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology*
  • Male
  • Ossification, Heterotopic / genetics
  • Ossification, Heterotopic / pathology*
  • Trisomy / genetics
  • Trisomy / pathology*