title: Isochromosome 12p-positive pineal germ cell tumor.
abstract: We report the chromosomal characteristics of a recurrent pineal non-seminomatous germ cell tumor in a 16-year-old male patient. This non-seminomatous tumor had the following components: embryonal carcinoma, teratoma, yolk sac tumor, and trophoblastic giant cells. Chromosome analysis showed a near-triploid karyotype (64 chromosomes), including two copies of an isochromosome 12p. This latter finding could be confirmed using 12p-specific competitive in situ hybridization techniques applied to cultured cells (T2219-P6 cell line) derived from the tumor. The present findings are in keeping with the hypothesis that isochromosome 12p formation is associated with the development of malignant extragonadal germ cell tumors.
authors.affiliation: Department of Medicine, University of Utrecht, The Netherlands.
authors.forename: T W
authors.initials: TW
authors.lastname: de Bruin
authors.forename: R M
authors.initials: RM
authors.lastname: Slater
authors.forename: R
authors.initials: R
authors.lastname: Defferrari
authors.forename: A
authors.initials: A
authors.lastname: Geurts van Kessel
authors.forename: R F
authors.initials: RF
authors.lastname: Suijkerbuijk
authors.forename: G
authors.initials: G
authors.lastname: Jansen
authors.forename: B
authors.initials: B
authors.lastname: de Jong
authors.forename: J W
authors.initials: JW
authors.lastname: Oosterhuis
mesh_terms: D000293:Adolescent; D001932:Brain Neoplasms / Q000235:genetics*; D002869:Chromosome Aberrations; D002875:Chromosomes; D002881:Chromosomes, Human, Pair 12; D018237:Germinoma / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D008297:Male; D010870:Pineal Gland