Analysis of the Y chromosome in gonadoblastoma
- Univ. of Washington, Seattle, WA (United States); and others
Gonadoblastoma is a rare tumor arising in the streak gonads of about 30% of 46,XY sex-reversed females. As gonadoblastoma develops only in patients with Y-chromosome material and dysgenetic gonads, it has been hypothesized that positive expression of a gene (or genes) on the Y chromosome (GBY) is involved in the etiology of gonadoblastoma. To examine the Y chromsome directly in the tumors, we performed in situ hybridization of a Y-chromosome-specific probe to formalin-fixed, paraffin-embedded tumor samples from four different patients. A biotin-labeled probe for the repeated DYZ1 locus, which maps to interval 7 (band q12) of the Y chromosome was hybridized to gonadal sections and detected by antibodies and a peroxidase reaction. After hybridization to DYZ1, gonadoblastoma foci showed an average of 85% positive cells. The Y chromosome was found to be present in all gonadoblastoma foci in the four patients studied. Normal male and female control tissues showed an average of 83% and 0% positive cells, respectively. One patient with bilateral gonadoblastoma had been previously shown to be mosaic with a 45,X/46,XY karyotype in lymphocytes, skin fibroblasts, and cultures from both gonads. Examination of sections of this patient`s gonads showed 77% positive cells within the gonadoblastoma foci, while the nontumor stroma tissue had 19% positive cells. These results indicate that in this mosaic gonad tumor foci exclusively developed from cells having a Y chromosome. Our results support the hypothesis that there is a GBY locus on the Y chromosome and that the Y chromosome is retained in gonadoblastoma foci during the progression of tumor.
- OSTI ID:
- 135555
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0306
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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