title: Ewing tumours and synovial sarcomas have critical features of karyotype evolution in common with epithelial tumours.
abstract: We have analysed the accumulated cytogenetic data on karyotypic evolution in Ewing tumours (ET) and synovial sarcomas (SS). Both tumour types frequently show balanced translocations, t(11;22) and t(X;18), respectively, that result in specific fusion genes. The analyses revealed +8, +12, +1q, and 16q- as important secondary changes to t(11;22) in ET and the imbalances showed a distinct temporal order. By principal component analysis, one major karyotypic pathway dominated by gains and one minor dominated by losses were identified. The kartyotypic evolution pattern in SS was less distinct. Both ET and SS showed a power law distribution of the number of acquired aberrations, which in both tumour types conformed to a distribution with an exponent equal to 1. Similar distributions are frequently found in epithelial tumours. ET and SS differ in this respect from other malignancies with balanced translocations resulting in fusion genes, which typically show a power law distribution of the number of acquired aberrations with exponents close to 2. This suggests that chromosome changes in ET and SS may develop through mechanisms more similar to those in epithelial tumours lacking recurrent balanced rearrangements than in haematological malignancies characterised by balanced translocations leading to fusion genes.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. mattias.hoglund@med.lu.se
authors.forename: Mattias
authors.initials: M
authors.lastname: Höglund
authors.forename: David
authors.initials: D
authors.lastname: Gisselsson
authors.forename: Nils
authors.initials: N
authors.lastname: Mandahl
authors.forename: Felix
authors.initials: F
authors.lastname: Mitelman
mesh_terms: D001859:Bone Neoplasms / Q000235:genetics*; D030541:Databases, Genetic; D019143:Evolution, Molecular; D006801:Humans; D007621:Karyotyping; D009375:Neoplasms, Glandular and Epithelial / Q000235:genetics*; D025341:Principal Component Analysis; D012512:Sarcoma, Ewing / Q000235:genetics*; D013584:Sarcoma, Synovial / Q000235:genetics*; D014178:Translocation, Genetic