title: Centromere cleavage is a mechanism underlying isochromosome formation in skin and head and neck carcinomas.
abstract: Centromeric rearrangements, in the form of isochromosomes or whole-arm translocations, are the most common recurrent changes in head and neck and skin carcinomas. Little is known about the mechanisms behind the origin of these chromosome rearrangements. In the present study, one basal cell carcinoma and two squamous cell carcinomas of the head and neck were thoroughly studied by cytogenetic and fluorescence in situ hybridization techniques. All tumors showed intratumor heterogeneity in the form of cytogenetically related subclones (in all tumors) and unrelated clones (in one tumor). Assessment of karyotypic evolution in these tumors suggests that centromeric cleavage is a mechanism giving rise to isochromosomes. A similar mechanism may also be involved in the formation of whole-arm translocations.
authors.affiliation: Department of Clinical Genetics, University Hospital, 221 85 Lund, Sweden. Yuesheng.Jin@klingen.lu.se
authors.forename: Y
authors.initials: Y
authors.lastname: Jin
authors.forename: C
authors.initials: C
authors.lastname: Jin
authors.forename: L
authors.initials: L
authors.lastname: Salemark
authors.forename: C
authors.initials: C
authors.lastname: Martins
authors.forename: J
authors.initials: J
authors.lastname: Wennerberg
authors.forename: F
authors.initials: F
authors.lastname: Mertens
mesh_terms: D002280:Basal Cell Carcinoma / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002503:Centromere; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D012878:Skin Neoplasms / Q000235:genetics*