Compartir
Título
Identification of a novel recurrent gain on 20q13 in chronic lymphocytic leukemia by array CGH and gene expression profiling
Autor(es)
Materia
CLL
cytogenetic aberrations
gene expression profile
genomic arrays
Clasificación UNESCO
3109.01 Anatomía
6310.03 Enfermedad
Fecha de publicación
2012
Editor
Elsevier
Citación
Rodríguez Vicente, A.E., Robledo, C., García, J.L., González, M., Gutiérrez, N.C., Hernández, J.A., Sandoval, V., García de Coca, A., Recio, I., Risueño, A., Martín-Nuñez, G., García, E., Fisac, R., Conde, J., de las Rivas, J., Hernández, J.M. (2012).Identification of a novel recurrent gain on 20q13 in chronic lymphocytic leukemia by array CGH and gene expression profiling. Annals of Oncology, 23 (8) pp 2138-2146. https://doi.org/10.1093/annonc/mdr579
Resumen
[EN] Background: The presence of genetic changes is a hallmark of chronic lymphocytic leukemia (CLL). The most
common cytogenetic abnormalities with independent prognostic significance in CLL are 13q14, ATM and TP53
deletions and trisomy 12. However, CLL displays a great genetic and biological heterogeneity. The aim of this study
was to analyze the genomic imbalances in CLL cytogenetic subsets from both genomic and gene expression
perspectives to identify new recurrent alterations.
Patients and methods: The genomic imbalances and expression levels of 67 patients were analyzed. The novel
recurrent abnormalities detected with bacterial artificial chromosome array were confirmed by FISH and oligonucleotide
microarrays. In all cases, gene expression profiling was assessed.
Results: Copy number alterations were identified in 75% of cases. Overall, the results confirmed FISH studies for the
regions frequently involved in CLL and also defined a new recurrent gain on chromosome 20q13.12, in 19% (13/67) of
the CLL patients. Oligonucleotide expression correlated with the regions of loss or gain of genomic material, suggesting
that the changes in gene expression are related to alterations in copy number.
Conclusion: Our study demonstrates the presence of a recurrent gain in 20q13.12 associated with overexpression of
the genes located in this region, in CLL cytogenetic subgroups.
URI
ISSN
0923-7534
DOI
10.1093/annonc/mdr579
Versión del editor
Colecciones