title: Regional deletion and amplification on chromosome 6 in a uveal melanoma case without abnormalities on chromosomes 1p, 3 and 8.
abstract: Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. Loss of the long arm and gain of the short arm of chromosome 6 are frequently observed chromosomal aberrations in UM, together with loss of chromosome 1p36, loss of chromosome 3 and gain of chromosome 8. This suggests the presence of one or more oncogenes on 6p and tumor suppressor genes at 6q that are involved in UM development. Both regions, however, have not been well defined yet. Furthermore in other neoplasms gain of 6p and loss of 6q are frequently occurring events. In this case report, we describe the delineation of a partial gain on chromosome 6p and a partial deletion on 6q in a UM with the objective to pinpoint smaller candidate regions on chromosome 6 involved in UM development. Conventional cytogenetics, comparative genomic hybridization (CGH) and fluorescence in-situ hybridization (FISH) were used to delineate regions of loss and gain on chromosome 6 in this UM patient. With conventional cytogenetics a deleted region was found on chromosome 6q that was further delineated to a region ranging from 6q16.1 to 6q22 using CGH and FISH. A region of gain from 6pter to 6p21.2 was also demarcated with CGH and FISH. No other deletions or amplifications on recurrently involved chromosomes were found in this patient. This study indicates the presence of one or more tumor suppressor genes on chromosomal region 6q16.1-6q22 and the presence of one or more oncogenes on chromosomal region 6pter-6p21.2, which are likely to be important in UM and other tumors.
authors.affiliation: Departments of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Walter
authors.initials: W
authors.lastname: van Gils
authors.forename: Emine
authors.initials: E
authors.lastname: Kilic
authors.forename: Hennie T
authors.initials: HT
authors.lastname: Brüggenwirth
authors.forename: Jolanda
authors.initials: J
authors.lastname: Vaarwater
authors.forename: Michael M
authors.initials: MM
authors.lastname: Verbiest
authors.forename: Berna
authors.initials: B
authors.lastname: Beverloo
authors.forename: Marjan E
authors.initials: ME
authors.lastname: van Til-Berg
authors.forename: Dion
authors.initials: D
authors.lastname: Paridaens
authors.forename: Gregorius P
authors.initials: GP
authors.lastname: Luyten
authors.forename: Annelies
authors.initials: A
authors.lastname: de Klein
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005784:Gene Amplification; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D009693:Nucleic Acid Hybridization; D014604:Uveal Neoplasms / Q000235:genetics* / Q000473:pathology