title: Recurrent gains of 1q, 8 and 12 in the Ewing family of tumours by comparative genomic hybridization.
abstract: Comparative genomic hybridization (CGH) was used to detect copy number changes of DNA sequences in the Ewing family of tumours (ET). We analysed 20 samples from 17 patients. Fifteen tumours (75%) showed copy number changes. Gains of DNA sequences were much more frequent than losses, the majority of the gains affecting whole chromosomes or whole chromosome arms. Recurrent findings included copy number increases for chromosomes 8 (seven out of 20 samples; 35%), 1q (five samples; 25%) and 12 (five samples; 25%). The minimal common regions of these gains were the whole chromosomes 8 and 12, and 1q21-22. High-level amplifications affected 8q13-24, 1q and 1q21-22, each once. Southern blot analysis of the specimen with high-level amplification at 1q21-22 showed an amplification of FLG and SPRR3, both mapped to this region. All cases with a gain of chromosome 12 simultaneously showed a gain of chromosome 8. Comparison of CGH findings with cytogenetic analysis of the same tumours and previous cytogenetic reports of ET showed, in general, concordant results. In conclusion, our findings confirm that secondary changes, which may have prognostic significance in ET, are trisomy 8, trisomy 12 and a gain of DNA sequences in 1q.
authors.affiliation: Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
authors.forename: G
authors.initials: G
authors.lastname: Armengol
authors.forename: M
authors.initials: M
authors.lastname: Tarkkanen
authors.forename: M
authors.initials: M
authors.lastname: Virolainen
authors.forename: A
authors.initials: A
authors.lastname: Forus
authors.forename: J
authors.initials: J
authors.lastname: Valle
authors.forename: T
authors.initials: T
authors.lastname: Böhling
authors.forename: S
authors.initials: S
authors.lastname: Asko-Seljavaara
authors.forename: C
authors.initials: C
authors.lastname: Blomqvist
authors.forename: I
authors.initials: I
authors.lastname: Elomaa
authors.forename: E
authors.initials: E
authors.lastname: Karaharju
authors.forename: A H
authors.initials: AH
authors.lastname: Kivioja
authors.forename: M A
authors.initials: MA
authors.lastname: Siimes
authors.forename: E
authors.initials: E
authors.lastname: Tukiainen
authors.forename: M R
authors.initials: MR
authors.lastname: Caballín
authors.forename: O
authors.initials: O
authors.lastname: Myklebost
authors.forename: S
authors.initials: S
authors.lastname: Knuutila
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002898:Chromosomes, Human, Pair 8; D004273:DNA, Neoplasm / Q000032:analysis / Q000235:genetics; D005260:Female; D000091344:Filaggrin Proteins; D015894:Genome, Human; D006801:Humans; D017403:In Situ Hybridization; D007399:Interphase / Q000502:physiology; D008297:Male; D012512:Sarcoma, Ewing / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; C000717249:FLG protein, human; D000091344:Filaggrin Proteins