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Gonadoblastomas in 45,X/46,XY mosaicism: analysis of Y chromosome distribution by fluorescence in situ hybridization.

Abstract
Gonadoblastomas are composed of nests of neoplastic germ cells and sex cord derivatives surrounded by ovarian-type stroma. These tumors are found almost exclusively in persons with gonadal dysgenesis associated with a Y chromosome or Y chromosome fragment, and accordingly, the Y chromosome has been implicated in gonadoblastoma oncogenesis. To evaluate this association, we used two-color fluorescence in situ hybridization with chromosome-specific probes to determine the distribution of the X and Y chromosomes in the tumor nests and surrounding stromal cells in paraffin tissue sections of three gonadoblastomas in two patients with gonadal dysgenesis and 45,X/46,XY mosaicism. Statistical analysis of the data from the fluorescence in situ hybridization demonstrated that in all three gonadoblastomas, the proportion of nuclei with a Y chromosome signal was significantly higher in the tumor cells than in the nontumoral cells of the surrounding stroma (P<.001). These results suggest that Y chromosome material participates in gonadoblastoma tumorigenesis.
AuthorsJ C Iezzoni, C Von Kap-Herr, W L Golden, M J Gaffey
JournalAmerican journal of clinical pathology (Am J Clin Pathol) Vol. 108 Issue 2 Pg. 197-201 (Aug 1997) ISSN: 0002-9173 [Print] England
PMID9260761 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Adult
  • Child
  • Female
  • Gonadal Dysgenesis, 46,XY (genetics, pathology)
  • Gonadoblastoma (genetics, pathology)
  • Humans
  • In Situ Hybridization, Fluorescence (methods)
  • Male
  • Middle Aged
  • Mosaicism (genetics)
  • Ovarian Neoplasms (genetics, pathology)
  • Ovary (chemistry)
  • Skin (chemistry)
  • X Chromosome (genetics, pathology)
  • Y Chromosome (genetics, pathology)

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