title: Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses.
abstract: We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), -16/-16q (11/24), and +2p (9/24). Recurrent high-level amplifications were observed in 2p23-25 and 1q21. Amplification of 2p23-25, present in 4 cases among which 3 showed double-minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. No evident correlation was found in this small series between any of the imbalances identified and either the differentiation or the histoprognostic risk.
authors.affiliation: INSERM U509 Pathologie Moléculaire des Cancers, Institut Curie, Section de Recherche, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Mairal
authors.forename: E
authors.initials: E
authors.lastname: Pinglier
authors.forename: E
authors.initials: E
authors.lastname: Gilbert
authors.forename: M
authors.initials: M
authors.lastname: Peter
authors.forename: P
authors.initials: P
authors.lastname: Validire
authors.forename: L
authors.initials: L
authors.lastname: Desjardins
authors.forename: F
authors.initials: F
authors.lastname: Doz
authors.forename: A
authors.initials: A
authors.lastname: Aurias
authors.forename: J
authors.initials: J
authors.lastname: Couturier
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D005260:Female; D005784:Gene Amplification; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping / Q000379:methods; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods; D016133:Polymerase Chain Reaction; D012175:Retinoblastoma / Q000235:genetics*