title: Sensitive and reliable detection of genomic imbalances in human neuroblastomas using comparative genomic hybridisation analysis.
abstract: Deletions of the short arm of chromosome 1, extra copies of chromosome 17q and MYCN amplification are the most frequently encountered genetic changes in neuroblastomas. Standard techniques for detection of one or more of these genetic changes are karyotyping, FISH analysis and LOH analysis by Southern blot or PCR. Each of these techniques has its own particular limitations. More recently, comparative genomic hybridisation (CGH) was introduced for detection of genomic imbalances including deletions, duplications and gene amplification. We evaluated the sensitivity and reliability of CGH for detection of the most frequently encountered genetic changes in neuroblastoma. For this purpose a panel of well-characterised neuroblastoma cell lines as well as a series of 11 primary neuroblastomas was analysed. Our results show that CGH is a valuable tool for the genetic characterisation of neuroblastomas, both for the detection of frequently occurring genomic imbalances and for the identification of previously unnoticed genetic changes.
authors.affiliation: Department of Medical Genetics, University Hospital, Ghent, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Van Gele
authors.forename: N
authors.initials: N
authors.lastname: Van Roy
authors.forename: A
authors.initials: A
authors.lastname: Jauch
authors.forename: G
authors.initials: G
authors.lastname: Laureys
authors.forename: Y
authors.initials: Y
authors.lastname: Benoit
authors.forename: V
authors.initials: V
authors.lastname: Schelfhout
authors.forename: C R
authors.initials: CR
authors.lastname: De Potter
authors.forename: P
authors.initials: P
authors.lastname: Brock
authors.forename: A
authors.initials: A
authors.lastname: Uyttebroeck
authors.forename: R
authors.initials: R
authors.lastname: Sciot
authors.forename: E
authors.initials: E
authors.lastname: Schuuring
authors.forename: R
authors.initials: R
authors.lastname: Versteeg
authors.forename: F
authors.initials: F
authors.lastname: Speleman
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005784:Gene Amplification / Q000235:genetics; D016259:Genes, myc / Q000235:genetics; D006801:Humans; D008297:Male; D009447:Neuroblastoma / Q000235:genetics*; D009693:Nucleic Acid Hybridization / Q000379:methods*; D012680:Sensitivity and Specificity; D014407:Tumor Cells, Cultured