title: Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases.
abstract: Subependymomas (SE) are slow-growing brain tumors that tend to occur within the ventricles of middle-aged and elderly adults. The World Health Organization classifies these tumors within the ependymoma group. Previous limited analysis of this tumor type had not revealed significant underlying cytogenetic abnormalities. We have used microarray comparative genomic hybridization to study a series of SE (n = 12). A whole-genome array at 0.97-Mb resolution showed copy number abnormalities in five of 12 cases (42%). Two cases (17%) showed regions of loss on chromosome 6. More detailed analysis of all cases using a chromosome 6 tile-path array confirmed the presence of overlapping regions of loss in only these two cases. One of these cases also showed trisomy chromosome 7. Monosomy of chromosome 8 was seen in a further two cases (17%), and a partial loss on chromosome 14 was observed in one additional case. This is the first array-based, genome-wide study of SE. The observation that five of 12 cases examined (42%) at 0.97-Mb resolution showed chromosomal copy number abnormalities is a novel finding in this tumor type.
authors.affiliation: Department of Pathology, Division of Molecular Histopathology, Cambridge University, Cambridge, UK. kathreena.kurian@doctors.org.uk
authors.forename: Kathreena M
authors.initials: KM
authors.lastname: Kurian
authors.forename: David T W
authors.initials: DT
authors.lastname: Jones
authors.forename: Faye
authors.initials: F
authors.lastname: Marsden
authors.forename: Sam W S
authors.initials: SW
authors.lastname: Openshaw
authors.forename: Danita M
authors.initials: DM
authors.lastname: Pearson
authors.forename: Koichi
authors.initials: K
authors.lastname: Ichimura
authors.forename: V Peter
authors.initials: VP
authors.lastname: Collins
mesh_terms: D000328:Adult; D000368:Aged; D002551:Cerebral Ventricle Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002877:Chromosomes, Human / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D018628:Gene Dosage / Q000235:genetics*; D020869:Gene Expression Profiling; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015698:Genomic Library; D005838:Genotype; D018315:Glioma, Subependymal / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D009154:Mutation / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion; D014314:Trisomy