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In situ hybridization analysis of the Y chromosome in gonadoblastoma
Author(s) -
Sultana Razia,
Myerson David,
Disteche Christine M.
Publication year - 1995
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870130405
Subject(s) - gonadoblastoma , in situ hybridization , in situ , biology , chromosome , genetics , karyotype , chemistry , gene , gene expression , organic chemistry
Gonadoblastoma is a rare tumor arising in the streak gonads of about 30% of 46, XY sex‐reversed females. Because gonadoblastoma develops only in patients who have 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 the tumor. To examine the Y chromosome directly in tumors, we performed nonisotopic in situ hybridization of a biotin‐labeled Y‐specific probe for the DYZI locus on formalin‐fixed, paraffin‐embedded sections of tumor samples from four different patients. After hybridization to DYZI, the Y chromosome was found to be present in all gonadoblastoma foci in the four patients studied, and the gonadoblastoma foci showed an average of 85% cell nuclei positive for the Y chromosome on tissue sections. Normal male and female control tissues showed an average of 78% and 0% positive nuclei, respectively. One patient with bilateral gonadoblastoma had previously been 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 79% positive nuclei within the gonadoblastoma foci, whereas the nontumor stromal tissue had 19% positive nuclei. These results indicate that, in this mosaic gonad, tumor foci developed only from cells that had 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 the gonadoblastoma foci during the development of the tumor. © 1995 Wiley‐Liss, Inc.