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Genome profiles of bilateral dysgerminomas, a unilateral gonadoblastoma, and a metastasis from a 46, XY phenotypic female
Authors:Kildal Wanja  Kraggerud Sigrid Marie  Abeler Vera M  Heim Sverre  Tropé Claés G  Kristensen Gunnar B  Risberg Bjørn  Lothe Ragnhild A  Danielsen Håvard E
Institution:Department of Pathology, University Clinic of The Norwegian Radium Hospital, Oslo, Norway.
Abstract:We present a case report of a 16-year-old, phenotypic female with bilateral dysgerminomas, a unilateral gonadoblastoma, and a peritoneal metastasis. The patient's constitutional karyotype was 46,XY. The chromosomal copy number, examined by the comparative genomic hybridization technique, showed 3 gains in the dysgerminoma of the right ovary, 6 gains in the dysgerminoma of the left ovary, and 2 gains and 1 loss in the gonadoblastoma of the left ovary. The metastasis showed 5 gains of which 4 were also observed in the dysgerminoma of the left ovary. The DNA ploidy classifications of the gonadoblastoma and the dysgerminoma in the right ovary were tetraploid, whereas the dysgerminoma in the left ovary and the metastasis were aneuploid. We therefore propose that the metastasis most probably developed from the dysgerminoma of the left ovary.
Keywords:malignant germ cell tumors of the ovary  DNA ploidy analysis  Comparative genomic hybridization
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