title: 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.
authors.affiliation: Department of Pathology, University of Virginia Health Sciences Center, Charlottesville 22908, USA.
authors.forename: J C
authors.initials: JC
authors.lastname: Iezzoni
authors.forename: C
authors.initials: C
authors.lastname: Von Kap-Herr
authors.forename: W L
authors.initials: WL
authors.lastname: Golden
authors.forename: M J
authors.initials: MJ
authors.lastname: Gaffey
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology; D018238:Gonadoblastoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D010053:Ovary / Q000737:chemistry; D012867:Skin / Q000737:chemistry; D014960:X Chromosome / Q000235:genetics* / Q000473:pathology; D014998:Y Chromosome / Q000235:genetics* / Q000473:pathology