RESUMO
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.
Assuntos
Neoplasias da Coroide/genética , Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos Par 3 , Genes Supressores de Tumor , Melanoma/genética , Neoplasias da Coroide/patologia , Neoplasias da Coroide/cirurgia , Mapeamento Cromossômico , Cromossomos Humanos Par 22 , Feminino , Humanos , Cariotipagem , Melanoma/patologia , Melanoma/cirurgia , Pessoa de Meia-Idade , Translocação GenéticaRESUMO
The authors examine general aspects of the assessment and evaluation of inflammation of the anterior segment of the eye, stressing above all the importance of accurate history taking and correct diagnostic approach. The also define general features of inflammatory processes and analyse the main and most modern instrumental techniques that are essential for precise assessment of clinical parameters of inflammatory conditions of the anterior segment of the eye.