title: 3p13 region: a possible location of a tumor suppressor gene involved in uveal melanoma.
abstract: To contribute to a better understanding of the role of chromosomal rearrangements in the tumorigenesis of uveal melanoma, we present a case in which a structural aberration of chromosome 3 could indicate the specific region in which an uveal melanoma tumor suppressor gene could be located. We obtained a primary cell culture, characterized by cytogenetic study, through GTG- and CBG-banding techniques by using a mechanical dissection of a tumor sample obtained from an uveal melanoma. Cytogenetic analysis performed in the primary cell culture highlighted the presence of a structural rearrangement involving chromosomes 3 and 22. A t(3;22)(p13;p11) was observed as the only present clonal aberration. The 3p13 breakpoint involved in the aberration observed in our case could be essential in restricting the candidate region for the locus of an uveal melanoma tumor suppressor gene located on chromosome 3.
authors.affiliation: Department of Ophthalmology, University of L'Aquila, Italy.
authors.forename: M A
authors.initials: MA
authors.lastname: Blasi
authors.forename: F
authors.initials: F
authors.lastname: Roccella
authors.forename: E
authors.initials: E
authors.lastname: Balestrazzi
authors.forename: G
authors.initials: G
authors.lastname: Del Porto
authors.forename: N
authors.initials: N
authors.lastname: De Felice
authors.forename: M
authors.initials: M
authors.lastname: Roccella
authors.forename: R
authors.initials: R
authors.lastname: Rota
authors.forename: P
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D002830:Choroid Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D007621:Karyotyping; D008545:Melanoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008875:Middle Aged; D014178:Translocation, Genetic