Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/202962
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | CLL cells cumulate genetic aberrations prior to the first therapy even in outwardly inactive disease phase |
Autor: | Hernández-Sánchez, María; Kotaskova, Jana; Rodríguez-Vicente, Ana Eugenia; Radova, Lenka; Tamborero, David; Abáigar, María CSIC; Plevova, Karla; Benito, Rocío; Tom, Nikola; Quijada-Álamo, Miguel; Bikos, Vasileos; Martín, Ana-África; Pal, Karol; García de Coca, Alfonso; Doubek, Michael; López-Bigas, Nuria; Hernández, Jesús M. CSIC ORCID ; Pospisilova, Sarka | Fecha de publicación: | 2019 | Editor: | Springer Nature | Citación: | Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 33: 518- 558 (2019) | Resumen: | Over the past few years, several large-scale studies using next-generation sequencing (NGS) of whole-genomes (WGS) and whole-exomes (WES) have defined the mutational landscape of chronic lymphocytic leukemia (CLL) [1,2,3,4]. NGS studies have also revealed the clonal heterogeneity in CLL and showed that clonal evolution contributes to the variability in clinical course among CLL patients [3]. Clonal evolution is considered a key condition in CLL progression and relapse after treatment. Most CLL cases are diagnosed during the inactive disease phase, genetic aberrations’ underlying progress in CLL activity leading to the need for therapy are poorly understood and should be explored. A large number of frequently mutated genes have been identified and several putative driver mutations likely to confer selective growth advantage to CLL tumor cells have been proposed [1,2,3]. In addition, clonal shifts between paired treatment-naïve and relapsed CLL samples have been reported due to pre-existing subclone expansion under therapeutic pressure, demonstrating that clonal evolution likely underlies CLL relapse [3, 5]. Nevertheless, there are still a limited amount of longitudinal WES studies analyzing consecutive CLL samples before treatment intervegntion [6]. The acquisition of driver mutations accompanied by selectively neutral passenger changes during disease prior to therapy influence is therefore poorly documented. Here, WES was performed on consecutive treatment-naïve samples of CLL patients from three groups with different disease course: Active disease (AD) group: patients with an active disease before the second analyzed time-point (TP2); Stable disease (SD) group: cases with a period of stable phase after diagnosis followed by progression within 3 years after; and Indolent disease (ID) group: those with a long-term stable indolent disease. Moreover, we applied a novel integrative bioinformatics tool called “Cancer Genome Interpreter” to identify driver mutations [7]. | Versión del editor: | http://dx.doi.org/10.1038/s41375-018-0255-1 | URI: | http://hdl.handle.net/10261/202962 | DOI: | 10.1038/s41375-018-0255-1 | ISSN: | 0887-6924 | E-ISSN: | 1476-5551 |
Aparece en las colecciones: | (IBMCC) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
accesoRestringido.pdf | 15,38 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
9
checked on 10-abr-2024
SCOPUSTM
Citations
15
checked on 12-abr-2024
WEB OF SCIENCETM
Citations
14
checked on 24-feb-2024
Page view(s)
202
checked on 19-abr-2024
Download(s)
23
checked on 19-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.