Cytogenetic and FISH analysis of endometrial carcinoma.

Endometrial cancer is a common gynecologic tumor, yet reports of cytogenetic studies are few. We studied chromosomes from seven primary specimens of endometrial cancer. Six had abnormal chromosomes; five had a diploid-hyperdiploid modal number and one was triploid. One specimen had a normal karyotype. Chromosome 1 was frequently involved in abnormalities (five tumors) with i(1q) in two tumors, and one tumor each had der(7)t(1;7)(q12;p11) and +add (1)(p13). One additional tumor had trisomy 1 in the single cell which could be fully analyzed. Trisomy 7 was noted in two tumors, and trisomy 10 in one. Because trisomies of these chromosomes have been reported in other cases of endometrial cancer, we used fluorescent in situ hybridization (FISH) with centromere probes to determine the prevalence of trisomies 7 and 10 in these specimens. No additional tumors were found to have trisomies 7 or 10 by FISH. Our data, in combination with published literature, suggest that additional copies of 1q or portions of 1q constitute the primary change in this tumor. Extra copies of genes in this region may play an important role in tumorigenesis in endometrial carcinoma.