title: Genome profiles of bilateral dysgerminomas, a unilateral gonadoblastoma, and a metastasis from a 46, XY phenotypic female.
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.
authors.affiliation: Department of Pathology, University Clinic of The Norwegian Radium Hospital, Oslo, Norway.
authors.forename: Wanja
authors.initials: W
authors.lastname: Kildal
authors.forename: Sigrid Marie
authors.initials: SM
authors.lastname: Kraggerud
authors.forename: Vera M
authors.initials: VM
authors.lastname: Abeler
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
authors.forename: Claés G
authors.initials: CG
authors.lastname: Tropé
authors.forename: Gunnar B
authors.initials: GB
authors.lastname: Kristensen
authors.forename: Bjørn
authors.initials: B
authors.lastname: Risberg
authors.forename: Ragnhild A
authors.initials: RA
authors.lastname: Lothe
authors.forename: Håvard E
authors.initials: HE
authors.lastname: Danielsen
mesh_terms: D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D003131:Combined Modality Therapy; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D018628:Gene Dosage; D015894:Genome, Human; D018238:Gonadoblastoma / Q000235:genetics* / Q000556:secondary / Q000628:therapy; D006801:Humans; D008198:Lymph Nodes / Q000473:pathology; D008207:Lymphatic Metastasis / Q000235:genetics / Q000473:pathology; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D011003:Ploidies; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm