A carregar...
Publicação
Caracterização citogenética de doentes com Leucemia Linfocítica Crónica
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 9.2 MB | Adobe PDF |
Autores
Resumo(s)
A leucemia linfocítica crónica (LLC) é uma neoplasia que apresenta uma elevada heterogeneidade genética, com anomalias citogenéticas recorrentes, como a trissomia 12, e as deleções de 11q e 13q, e 17p. Estas alterações estão relacionadas com o prognóstico do doente assim como com a escolha terapêutica a adotar. Este estudo teve como objetivo caraterizar citogeneticamente doentes com diagnóstico de LLC, de modo a evidenciar a relevância da citogenética no diagnóstico diferencial, prognóstico e escolha terapêutica. Este estudo foi realizado utilizando um painel de 11 doentes através da combinação de técnicas de citogenética convencional e molecular. As alterações características de LLC identificadas pelo conjunto das técnicas aplicadas incluíram del(11q) em dois casos, trissomia 12 em dois casos, del(13q) em quatro casos e del(17p) em dois casos. Cinco dos casos apresentavam cariótipos complexos, um biomarcador de mau prognóstico na LLC. Num dos casos, os estudos citogenéticos em conjunto com os resultados obtidos pela Anatomia Patológica, permitiram identificar a progressão da LLC para um linfoma difuso de grandes células B. Estes resultados evidenciam a relevância dos estudos citogenéticos na caracterização da LLC, tanto para um diagnóstico diferencial como para o prognóstico e orientação terapêutica.
Chronic lymphocytic leukemia (CLL) is a neoplasm that has high genetic heterogeneity, with recurrent cytogenetic abnormalities such as trisomy 12 and deletions of 11q, 13q, and 17p. These cytogenetic abnormalities are related to the patient's prognosis as well as indications of treatment. The aim of this study was to cytogenetically characterize patients diagnosed with CLL in order to highlight the relevance of cytogenetics in differential diagnosis, prognosis, and therapeutic choice in CLL. This study was conducted through a combination of conventional and molecular cytogenetic techniques in a panel of 11 patients. The recurrent cytogenetic abnormalities of CLL identified included del(11q) in two cases, trisomy 12 in two cases, del(13q) in four cases, and del(17p) in two cases. Five of the cases had complex karyotypes, a biomarker of poor prognosis in CLL. In one of the cases, the cytogenetic study, in combination with the results obtained by Pathological Anatomy, allowed the identification of CLL progression to a diffuse large B-cell lymphoma. These results highlight the relevance of cytogenetic studies in the characterization of CLL, both for differential diagnosis and for prognosis and therapeutic guidance.
Chronic lymphocytic leukemia (CLL) is a neoplasm that has high genetic heterogeneity, with recurrent cytogenetic abnormalities such as trisomy 12 and deletions of 11q, 13q, and 17p. These cytogenetic abnormalities are related to the patient's prognosis as well as indications of treatment. The aim of this study was to cytogenetically characterize patients diagnosed with CLL in order to highlight the relevance of cytogenetics in differential diagnosis, prognosis, and therapeutic choice in CLL. This study was conducted through a combination of conventional and molecular cytogenetic techniques in a panel of 11 patients. The recurrent cytogenetic abnormalities of CLL identified included del(11q) in two cases, trisomy 12 in two cases, del(13q) in four cases, and del(17p) in two cases. Five of the cases had complex karyotypes, a biomarker of poor prognosis in CLL. In one of the cases, the cytogenetic study, in combination with the results obtained by Pathological Anatomy, allowed the identification of CLL progression to a diffuse large B-cell lymphoma. These results highlight the relevance of cytogenetic studies in the characterization of CLL, both for differential diagnosis and for prognosis and therapeutic guidance.
Descrição
Palavras-chave
Leucemia Linfocítica Crónica Alterações cromossómicas Cariótipo FISH