title: Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization.
abstract: The genetic hallmark of retinoblastoma is mutation or deletion of the RB1 gene, whereas other genetic alterations that are also required are largely unknown. To screen for genomic imbalances on a genomewide level, we studied a series of 17 primary retinoblastomas by matrix-based comparative genomic hybridization (matrix-CGH). The matrix-CGH chip contained 6,000 immobilized genomic DNA fragments covering the human genome, with an average resolution of about 500 kb. The most frequent imbalances detected were gains on chromosome arms 1q (12 of 17), 6p (10 of 17), 2p (5 of 17), and 19q (4 of 17) and loss on 16q (7 of 17). Candidate regions could be narrowed to small intervals by the identified minimally overlapping regions on 1q22, 1q32.1q32.2, 2p24.1, and 6p21.33-p21.31. Furthermore, two as-yet-unknown high-level amplifications were detected, each in a single patient, on chromosome bands 1p34.2 and 1p33. Thus, this study identified new chromosomal regions and therefore potential candidate genes that may play a role in retinoblastoma.
authors.affiliation: German Cancer Research Center, Division of Molecular Genetics, Heidelberg, Germany.
authors.forename: Boris
authors.initials: B
authors.lastname: Zielinski
authors.forename: Sandrine
authors.initials: S
authors.lastname: Gratias
authors.forename: Grischa
authors.initials: G
authors.lastname: Toedt
authors.forename: Frank
authors.initials: F
authors.lastname: Mendrzyk
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Stange
authors.forename: Bernhard
authors.initials: B
authors.lastname: Radlwimmer
authors.forename: Dietmar R
authors.initials: DR
authors.lastname: Lohmann
authors.forename: Peter
authors.initials: P
authors.lastname: Lichter
mesh_terms: D022981:Allelic Imbalance / Q000235:genetics*; D045744:Cell Line, Tumor; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D005134:Eye Neoplasms / Q000235:genetics*; D005784:Gene Amplification; D006801:Humans; D017403:In Situ Hybridization; D009693:Nucleic Acid Hybridization; D012175:Retinoblastoma / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics