title: Endometrioid-like yolk sac and Sertoli-Leydig cell tumors in a carrier of a Y heterochromatin insertion into 1qh region: a causal association?
abstract: We describe the case of a young woman showing yolk sac tumors (YST) and a Sertoli-Leydig cell tumor (SLCT) in the right ovary, with recurrences in the right adnexum and with hepatic metastasis. To our knowledge, YST and SLCT have never been described as components of the same tumor or reported as associated in the same patient. The patient's karyotype showed the presence of Y chromosome inserted into the 1qh region; the inserted region corresponded to Yq12 heterochromatin. LOH analysis revealed 1p36 paternal allele loss in the proband tumor, thus supporting a germ cell origin for the tumor. The presence of Y heterochromatin in 1qh DNA might induce disturbances in the normal regulation of oncogenes located in 1q.
authors.affiliation: Genetic Laboratory, H.S. Gerardo, Monza, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Sala
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Villa
authors.forename: Francesca
authors.initials: F
authors.lastname: Crosti
authors.forename: Monica
authors.initials: M
authors.lastname: Miozzo
authors.forename: Patrizia
authors.initials: P
authors.lastname: Perego
authors.forename: Anna
authors.initials: A
authors.lastname: Cappellini
authors.forename: Cristina
authors.initials: C
authors.lastname: Bonazzi
authors.forename: Donatella
authors.initials: D
authors.lastname: Barisani
authors.forename: Leda
authors.initials: L
authors.lastname: Dalprà
mesh_terms: D018269:Carcinoma, Endometrioid / Q000473:pathology; D002874:Chromosome Mapping / Q000379:methods; D002878:Chromosomes, Human, Pair 1; D041322:Chromosomes, Human, Y; D018240:Endodermal Sinus Tumor / Q000235:genetics / Q000473:pathology*; D005260:Female; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D019656:Loss of Heterozygosity; D010051:Ovarian Neoplasms / Q000235:genetics / Q000473:pathology*; D016324:Sequence Tagged Sites; D018310:Sertoli-Leydig Cell Tumor / Q000235:genetics / Q000473:pathology*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D006570:Heterochromatin